Lista de obras - Margaret A Pericak-Vance

17. Regional mapping of the facioscapulohumeral muscular dystrophy gene on 4q35: linkage analysis of the International Consortium

article

A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.

artículo científico publicado en 2003

A Bgl II polymorphism detected by LDR152 [D19S19].

artículo científico publicado en 1988

A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium

artículo científico publicado en 2016

A Common Variant of IL-6R is Associated with Elevated IL-6 Pathway Activity in Alzheimer's Disease Brains

artículo científico publicado en 2017

A Community's Awareness and Perceptions of Genomic Medicine

artículo científico publicado en 2009

A Novel Long and Unstable CAG/CTG Trinucleotide Repeat on Chromosome 17q ⬇️

artículo científico publicado el 15 de abril de 1998

A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease

artículo científico publicado en 2007

A StuI polymorphism on chromosome 3p14.1-14.2 (D3S622) defined by two polymorphic StuI sites 2.4 kb apart.

artículo científico publicado en 1991

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

artículo científico publicado en 2017

A comparative analysis of the information content in long and short SAGE libraries

artículo científico publicado en 2006

A comparison of repetitive behaviors in Aspergers Disorder and high functioning autism

artículo científico publicado en 2007

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group

scientific article published on 01 August 1996

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

artículo científico publicado en 2001

A de novo 1.5 Mb microdeletion on chromosome 14q23.2‐23.3 in a patient with autism and spherocytosis ⬇️

artículo científico publicado el 28 de febrero de 2011

A de novo frame-shift mutation in the tuberin gene ⬇️

artículo científico publicado el 1 de agosto de 1995

A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis

artículo científico publicado en 2001

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1

artículo científico publicado en 2009

A genome-wide linkage analysis of dementia in the Amish

artículo científico publicado en 2006

A genome-wide linkage screen in the Amish with Parkinson disease points to chromosome 6

artículo científico publicado en 2011

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p.

artículo científico publicado en 2006

A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study

artículo científico publicado en 2004

A high-density screen for linkage in multiple sclerosis

artículo científico publicado en 2005

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.

scientific article published on 24 September 2006

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

artículo científico publicado en 2002

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

artículo científico publicado en 2015

A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01.

artículo científico publicado en 2010

A molecular genetic approach to amyotrophic lateral sclerosis

artículo científico publicado en 1991

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

artículo científico publicado en 2005

A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12

A new probe for the diagnosis of myotonic muscular dystrophy

artículo científico publicado en 1987

A new tightly linked DNA probe for myotonic dystrophy

artículo científico publicado en 1986

A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

artículo científico publicado en 2011

A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis

artículo científico publicado en 2010

A novel ARMS2 splice variant is identified in human retina

artículo científico publicado en 2011

A novel Alzheimer disease locus located near the gene encoding tau protein.

artículo científico publicado en 2015

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

artículo científico publicado en 2011

A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)

artículo científico publicado en 2021

A novel mutation in the von Hippel-Lindau gene

artículo científico publicado en 1994

A novel splice site mutation (156 + 1G-->A) in the TSC2 gene

scientific article published on 01 January 1997

A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy

article

A population-specific reference panel empowers genetic studies of Anabaptist populations

artículo científico publicado en 2017

A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease

scientific article published on 03 January 2019

A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death

artículo científico publicado en 2014

A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene

artículo científico publicado en 1989

A second leaky splice-site mutation in the spastin gene

artículo científico publicado en 2001

A second major histocompatibility complex susceptibility locus for multiple sclerosis

artículo científico publicado en 2007

A second-generation genomic screen for multiple sclerosis

artículo científico publicado en 2004

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.

artículo científico publicado en 2016

ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology

artículo científico publicado en 2014

AMISH EYE STUDY: Baseline Spectral Domain Optical Coherence Tomography Characteristics of Age-Related Macular Degeneration

scientific article published on 01 August 2019

APOE Promoter Polymorphism-219T/G is an Effect Modifier of the Influence of APOE ε4 on Alzheimer's Disease Risk in a Multiracial Sample

artículo científico publicado en 2019

APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers

artículo científico publicado en 2006

APOE is not associated with Alzheimer disease: a cautionary tale of genotype imputation

artículo científico publicado en 2010

ASSOCIATION OF DRUSEN VOLUME WITH CHOROIDAL PARAMETERS IN NONNEOVASCULAR AGE-RELATED MACULAR DEGENERATION.

artículo científico publicado en 2017

Absence of linkage of ABO blood group locus to familial tuberous sclerosis

scientific article published on 01 June 1989

Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease.

artículo científico publicado en 1998

Adult-Onset Primary Open Angle Glaucoma Does Not Localize to Chromosome 2cen-q13 in North American Families ⬇️

artículo científico publicado el 1 de septiembre de 1998

Advances in the genomics of common eye diseases

artículo científico publicado en 2013

African American participation in health-related research studies: indicators for effective recruitment

artículo científico publicado en 2013

Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample

artículo científico publicado en 2017

Age at onset in two common neurodegenerative diseases is genetically controlled

artículo científico publicado en 2002

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

artículo científico publicado en 2012

Age-of-onset heterogeneity in Huntington disease families ⬇️

artículo científico publicado el 1 de enero de 1983

Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions

artículo científico publicado en 2004

Allelic association of sequence variants in the herpes virus entry mediator-B gene (PVRL2) with the severity of multiple sclerosis

artículo científico publicado en 2006

Alzheimer disease (AD) specific transcription, DNA methylation and splicing in twenty AD associated loci

artículo científico publicado en 2015

Alzheimer's disease and apolipoprotein E-4 allele in an Amish population

artículo científico publicado en 1996

An Improved Workflow for miRNA Expression Profiling Using Ion Semiconductor Sequencing

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

artículo científico publicado en 2011

An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease

artículo científico publicado en 1999

An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder

artículo científico publicado en 2006

An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.

artículo científico publicado en 2009

An autosomal genomic screen for dementia in an extended Amish family

artículo científico publicado en 2005

An exclusion map for facioscapulohumeral (Landouzy-Déjérine) disease

artículo científico publicado en 1989

An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy

artículo científico publicado en 1994

Analysis of European mitochondrial haplogroups with Alzheimer disease risk

artículo científico publicado en 2004

Analysis of Huntington disease linkage and age-of-onset distributions

artículo científico publicado en 1986

Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype

scientific article published on 10 June 2019

Analysis of association at single nucleotide polymorphisms in the APOE region

artículo científico publicado en 2000

Analysis of association between Alzheimer disease and the K variant of butyrylcholinesterase (BCHE-K)

artículo científico publicado en 1999

Analysis of brain region-specific co-expression networks reveals clustering of established and novel genes associated with Alzheimer disease

scientific article published on 02 September 2020

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy

artículo científico publicado en 1986

Analysis of genetic linkage data for Mendelian traits

artículo científico publicado en 2014

Analysis of genetic linkage data for Mendelian traits

scientific article published on 01 May 2001

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis

artículo científico publicado en 2013

Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder

artículo científico publicado en 2000

Analysis of single nucleotide polymorphisms in the NOS2A gene and interaction with smoking in age-related macular degeneration

artículo científico publicado en 2010

Analysis of the RELN gene as a genetic risk factor for autism

artículo científico publicado en 2005

Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration

artículo científico publicado en 1999

Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes

artículo científico publicado en 2004

Analysis of the indel at the ARMS2 3'UTR in age-related macular degeneration

artículo científico publicado en 2010

Ancestral origin of ApoE ε4 Alzheimer disease risk in Puerto Rican and African American populations

artículo científico publicado en 2018

Antiphospholipid Syndrome: Clinical Characteristics of Patients and Affected Family Members From Multiplex Families. ⬇️

artículo científico publicado en 2009

Apolipoprotein E E4 allele and risk of dementia

artículo científico publicado en 1995

Apolipoprotein E controls the risk and age at onset of Parkinson disease

artículo científico publicado en 2004

Apolipoprotein E epsilon2 does not increase risk of early-onset sporadic Alzheimer's disease

artículo científico publicado en 1997

Apolipoprotein E in Creutzfeldt-Jacob disease

Apolipoprotein E is associated with age at onset of amyotrophic lateral sclerosis

artículo científico publicado en 2004

Apolipoprotein E is localized to the cytoplasm of human cortical neurons: a light and electron microscopic study

artículo científico publicado en 1994

Apolipoprotein E is present in hippocampal neurons without neurofibrillary tangles in Alzheimer's disease and in age-matched controls

artículo científico publicado en 1994

Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease

artículo científico publicado en 1993

Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses

artículo científico publicado en 2016

Assessment of the genetic variance of late-onset Alzheimer's disease

artículo científico publicado en 2016

Association analysis of chromosome 15 gabaa receptor subunit genes in autistic disorder

artículo científico publicado en 2001

Association analysis of genetic polymorphisms in the CDC2 gene with late-onset Alzheimer disease

artículo científico publicado en 2006

Association and gene-gene interaction of SLC6A4 and ITGB3 in autism.

artículo científico publicado en 2010

Association between bleomycin hydrolase and Alzheimer's disease in caucasians

artículo científico publicado en 1998

Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease

artículo científico publicado en 2005

Association of CAV1/CAV2 genomic variants with primary open-angle glaucoma overall and by gender and pattern of visual field loss

artículo científico publicado en 2013

Association of Genetic Variants with Primary Open-Angle Glaucoma among Individuals with African Ancestry

artículo científico publicado en 2019

Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals

artículo científico publicado en 2015

Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry

artículo científico publicado en 2019

Association of Single-Nucleotide Polymorphisms of the Tau Gene With Late-Onset Parkinson Disease ⬇️

artículo científico publicado el 14 de noviembre de 2001

Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis

scientific article published on 22 August 2019

Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease

artículo científico publicado en 1993

Association of polymorphisms in the apolipoprotein E region with susceptibility to and progression of multiple sclerosis

artículo científico publicado en 2002

Association of the apolipoprotein E gene with age-related macular degeneration: possible effect modification by family history, age, and gender

artículo científico publicado en 2000

Association study of Parkin gene polymorphisms with idiopathic Parkinson disease

artículo científico publicado en 2003

Attitudes and Perceptions about Brain Donation Among African Americans: Implications for Recruitment into Alzheimer’s Disease Research

artículo científico publicado en 2024

Author Correction: A population-specific reference panel empowers genetic studies of Anabaptist populations.

artículo científico publicado en 2018

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Autism in African American families: clinical-phenotypic findings

artículo científico publicado en 2007

Autistic disorder and chromosome 15q11-q13: construction and analysis of a BAC/PAC contig

artículo científico publicado en 1999

Autistic symptoms among children and young adults with isodicentric chromosome 15.

artículo científico publicado en 2000

Automated identification of clinical features from sparsely annotated 3-dimensional medical imaging

artículo científico publicado en 2021

Behavioral comparisons in autistic individuals from multiplex and singleton families

artículo científico publicado el 1 de febrero de 2003

Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A

artículo científico publicado en 1995

Beyond proof of principle: new genes for Alzheimer's disease through collaboration

artículo científico publicado en 2009

Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease

artículo científico publicado en 1993

Blepharophimosis syndrome is linked to chromosome 3q.

artículo científico publicado en 1995

Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants

artículo científico publicado en 2012

Bringing the genetics of macular degeneration into focus

artículo científico publicado en 2007

C3 R102G polymorphism increases risk of age-related macular degeneration

artículo científico publicado en 2008

C9ORF72 intermediate repeat copies are a significant risk factor for Parkinson disease

artículo científico publicado en 2013

CALHM1 polymorphism is not associated with late-onset Alzheimer disease

artículo científico publicado en 2009

CC-chemokine receptor 5 polymorphism and age of onset in familial multiple sclerosis. Multiple Sclerosis Genetics Group

artículo científico publicado en 2000

CDKN2B-AS1 genotype-glaucoma feature correlations in primary open-angle glaucoma patients from the United States

artículo científico publicado en 2012

CHOROIDAL VASCULARITY INDEX AND CHOROIDAL THICKNESS IN EYES WITH RETICULAR PSEUDODRUSEN

scientific article published on 01 April 2020

CIITA variation in the presence of HLA-DRB1*1501 increases risk for multiple sclerosis

artículo científico publicado en 2010

Carrier detection in Sanfilippo syndrome type B: report of six families

scientific article published on 01 August 1981

Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants

artículo científico publicado en 2017

Cerebral metabolic and cognitive decline in persons at genetic risk for Alzheimer's disease

artículo científico publicado en 2000

Chorea-Acanthocytosis: Genetic Linkage to Chromosome 9q21 ⬇️

artículo científico publicado el 1 de octubre de 1997

Chorea-acanthocytosis: a report of three new families and implications for genetic counselling

artículo científico publicado en 1987

Chromosome 17q22–q24 and multiple sclerosis genetic susceptibility

article

Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration

artículo científico publicado en 2006

Class II HLA interactions modulate genetic risk for multiple sclerosis

artículo científico publicado en 2015

Clinical Expression of Multiple Sclerosis in Hispanic Whites of Primarily Caribbean Ancestry

artículo científico

Clinical Heterogeneity of Familial Spastic Paraplegia Linked to Chromosome 2p21 ⬇️

artículo científico publicado el 1 de mayo de 1998

Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy.

artículo científico publicado en 2001

Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis

artículo científico publicado en 1999

Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy

artículo científico publicado en 1988

Clinical application of apolipoprotein E genotyping to Alzheimer's disease

artículo científico publicado en 1994

Clinical causes and treatment of the thrombotic storm

artículo científico publicado en 2012

Clinical characteristics of African Americans vs Caucasian Americans with multiple sclerosis

artículo científico publicado en 2004

Clinical phenotype and linkage analysis of the congenital fibrosis of the extraocular muscles in an Indian family

artículo científico publicado en 2002

Clustering of autoimmune diseases in families with a high-risk for multiple sclerosis: a descriptive study.

artículo científico publicado en 2006

Coding variants in ARMS2 and the risk of age-related macular degeneration

artículo científico publicado en 2013

Coexistence of macular corneal dystrophy types I and II in a single sibship ⬇️

artículo científico publicado el 1 de marzo de 1998

Combinatorial Mismatch Scan (CMS) for loci associated with dementia in the Amish

artículo científico publicado en 2006

Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis

artículo científico publicado en 2012

Common genetic variants on 5p14.1 associate with autism spectrum disorders

artículo científico publicado en 2009

Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma

artículo científico publicado en 2012

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

artículo científico publicado en 2011

Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

artículo científico publicado en 2021

Comparing age-related macular degeneration phenotype in probands from singleton and multiplex families

artículo científico publicado en 2005

Comparison of three targeted enrichment strategies on the SOLiD sequencing platform

artículo científico publicado en 2011

Complement factor H increases risk for atrophic age-related macular degeneration

artículo científico publicado en 2006

Complement factor H variant increases the risk of age-related macular degeneration

artículo científico publicado en 2005

Complete genomic screen for disease susceptibility loci in nuclear families

scientific article published on 01 January 1999

Complete genomic screen in Parkinson disease: evidence for multiple genes.

artículo científico publicado en 2001

Complete genomic screen in late-onset familial Alzheimer disease. Evidence for a new locus on chromosome 12.

artículo científico publicado en 1997

Complete genomic screen in late-onset familial Alzheimer's disease

artículo científico publicado en 1998

Complex genetic disease: can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy?

artículo científico publicado en 1994

Complex gene–gene interactions in multiple sclerosis: a multifactorial approach reveals associations with inflammatory genes

article

Comprehensive association analysis of APOE regulatory region polymorphisms in Alzheimer disease

artículo científico publicado en 2004

Comprehensive search for Alzheimer disease susceptibility loci in the APOE region

artículo científico publicado en 2012

Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity

artículo científico publicado en 1997

Confirmation of linkage in von Hippel-Lindau disease

scientific article published on 01 March 1990

Confirmation of linkage of hereditary partial lipodystrophy to chromosome 1q21-22

scientific article published on 01 January 1999

Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13

scientific article published on 01 November 1996

Confirmation of linkage of oculopharyngeal muscular dystrophy to chromosome 14q11.2-q13 in American families suggests the existence of a second causal mutation

artículo científico publicado en 1997

Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis

artículo científico publicado en 2008

Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.

artículo científico publicado en 1995

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

artículo científico publicado en 2014

Convergent Pathways in Idiopathic Autism Revealed by Time Course Transcriptomic Analysis of Patient-Derived Neurons.

artículo científico publicado en 2018

Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk

artículo científico publicado en 2011

Coronary collateralization shows sex and racial-ethnic differences in obstructive artery disease patients

artículo científico publicado en 2017

Correction: Exome Sequencing of a Multigenerational Human Pedigree

Correction: SORL1 Is Genetically Associated with Late-Onset Alzheimer’s Disease in Japanese, Koreans and Caucasians

artículo científico publicado en 2013

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

artículo científico publicado en 2019

Covariate analysis of late-onset Alzheimer disease refines the chromosome 12 locus

artículo científico publicado en 2006

CpG-related SNPs in the MS4A region have a dose-dependent effect on risk of late-onset Alzheimer disease

artículo científico publicado en 2019

D2 dopamine receptor A1 allele in Alzheimer disease and aging

artículo científico publicado en 1997

D21S194, a jump clone from D21S16.

artículo científico publicado en 1990

DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma

artículo científico publicado en 2014

DNA variants in CACNA1C modify Parkinson disease risk only when vitamin D level is deficient

artículo científico publicado en 2016

De novo partial duplication of chromosome 7p in a male with autistic disorder

artículo científico publicado en 2001

Delayed onset of Alzheimer's disease with nonsteroidal anti-inflammatory and histamine H2 blocking drugs

artículo científico publicado en 1995

Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration

artículo científico publicado en 2007

Dementia in Africa: Current evidence, knowledge gaps, and future directions

article published in 2021

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities

scientific journal article

Dentatorubral-pallidoluysian atrophy and Haw River syndrome

artículo científico publicado en 1994

Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells

artículo científico publicado en 2012

Design of the Genetics of Early Onset Cardiovascular Disease (GENECARD) study

artículo científico publicado en 2003

Detailed analysis of allelic variation in the ABCA4 gene in age-related maculopathy

artículo científico publicado en 2003

Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment

artículo científico publicado en 1985

Development of a microsatellite genetic map spanning 5q31–q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9

article

Differences in apolipoprotein E3/3 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease

artículo científico publicado en 2005

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita

artículo científico publicado en 1992

Discovery of gene-gene interactions across multiple independent data sets of late onset Alzheimer disease from the Alzheimer Disease Genetics Consortium

artículo científico publicado en 2015

Dissecting A Complex Disease Using Modern Techniques of Molecular Biology

article

Dissecting the genetic relationship between cardiovascular risk factors and Alzheimer's disease

scientific article published on 09 November 2018

Dissecting the locus heterogeneity of autism: significant linkage to chromosome 12q14.

artículo científico publicado en 2006

Dissection of chromosome 16p12 linkage peak suggests a possible role for CACNG3 variants in age-related macular degeneration susceptibility

artículo científico publicado en 2011

Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma

artículo científico publicado en 2006

Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States

artículo científico publicado en 2006

Duchenne muscular dystrophy: detection of deletion carriers by spectrophotometric densitometry

artículo científico publicado en 1989

Duchenne muscular dystrophy: high frequency of deletions

scientific article published on 01 January 1988

Early adult-onset POAG linked to 15q11-13 using ordered subset analysis

artículo científico publicado en 2005

Early detection of Alzheimer's disease by combining apolipoprotein E and neuroimaging.

artículo científico publicado en 1996

Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport

artículo científico publicado en 2017

Education Moderates the Relation Between APOE ɛ4 and Memory in Nondemented Non-Hispanic Black Older Adults

artículo científico publicado en 2019

Effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer disease

artículo científico publicado en 2007

Effect of sera from myasthenia gravis patients on acetylcholine receptors in myotube cultures

artículo científico publicado en 1983

Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium

artículo científico publicado en 1997

Enhancing linkage analysis of complex disorders: an evaluation of high-density genotyping

article

Erratum: A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p

article

Erratum: Corrigendum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

scholarly article published in Nature Genetics

Estimating cumulative pathway effects on risk for age-related macular degeneration using mixed linear models

artículo científico publicado en 2015

Estrogen pathway polymorphisms in relation to primary open angle glaucoma: an analysis accounting for gender from the United States

artículo científico publicado en 2013

Evaluating Mitochondrial DNA Variation in Autism Spectrum Disorders ⬇️

artículo científico publicado el 6 de noviembre de 2012

Evaluating power and type 1 error in large pedigree analyses of binary traits

artículo científico publicado en 2013

Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways

artículo científico publicado en 2012

Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer disease

artículo científico publicado en 2010

Evidence for CRHR1 in multiple sclerosis using supervised machine learning and meta-analysis in 12,566 individuals

artículo científico publicado en 2010

Evidence for Genetic Heterogeneity Supports Clinical Differences in Congenital Myasthenic Syndromes

scientific article published on 01 November 1998

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

artículo científico publicado en 2012

Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy

artículo científico publicado en 1998

Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37

article

Evidence for polygenic susceptibility to multiple sclerosis--the shape of things to come

artículo científico publicado en 2010

Evidence of genetic variation for alpha-N-acetyl-D-glucosaminidase in black and white populations: a new polymorphism

artículo científico publicado en 1980

Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci

artículo científico publicado en 2012

Examination of association of genes in the serotonin system to autism

artículo científico publicado en 2009

Examination of association to autism of common genetic variationin genes related to dopamine

artículo científico publicado en 2008

Examination of candidate exonic variants for association to Alzheimer disease in the Amish

artículo científico publicado en 2015

Examination of seven candidate regions for multiple sclerosis: strong evidence of linkage to chromosome 1q44

scientific article published on 01 January 2006

Examination of tetrahydrobiopterin pathway genes in autism

artículo científico publicado en 2009

Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study

artículo científico publicado en 2020

Exclusion mapping of chromosomal regions which cross hybridise to FSHD1A associated markers in FSHD1B

artículo científico publicado en 1995

Exclusion of Identified LGMD1 Loci from Four Dominant Limb-Girdle Muscular Dystrophy Families

article

Exclusion of TIMP3 as a candidate locus in age-related macular degeneration.

artículo científico publicado en 1997

Exome Sequencing of Extended Families with Alzheimer's Disease Identifies Novel Genes Implicated in Cell Immunity and Neuronal Function

artículo científico publicado en 2017

Exome sequencing of a multigenerational human pedigree

artículo científico publicado en 2009

Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders

artículo científico publicado en 2014

Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.

artículo científico publicado en 1999

Exploring the Relationship Between Autism Spectrum Disorder and Epilepsy Using Latent Class Cluster Analysis ⬇️

artículo científico publicado el 1 de agosto de 2012

Exploring the association of glyceraldehyde-3-phosphate dehydrogenase gene and Alzheimer disease

artículo científico publicado en 2006

F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease

artículo científico publicado en 2015

FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4

artículo científico publicado en 2009

Factor analysis of restricted and repetitive behaviors in autism using the Autism Diagnostic Interview-R

artículo científico publicado el 1 de enero de 2003

Factor analysis of the aberrant behavior checklist in individuals with autism spectrum disorders

artículo científico publicado en 2006

False positive rates in a genomic screen for complex quantitative traits

scientific article published on 01 January 1997

Familial inheritance of a DXS164 deletion mutation from a heterozygous female

artículo científico publicado en 1987

Familial spastic paraparesis: evaluation of locus heterogeneity, anticipation, and haplotype mapping of the SPG4 locus on the short arm of chromosome 2

artículo científico publicado en 1997

Family History of Eating Disorder and the Broad Autism Phenotype in Autism

artículo científico publicado en 2020

Female with autistic disorder and monosomy X (Turner syndrome): parent-of-origin effect of the X chromosome

artículo científico publicado en 2000

Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease

artículo científico publicado en 2004

Findings from a community education needs assessment to facilitate the integration of genomic medicine into primary care ⬇️

artículo científico publicado el 1 de septiembre de 2010

Fine localization of the CMT4A locus using a PAC contig and haplotype analysis

article

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia

article

Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes

artículo científico publicado en 2003

Fine mapping of the chromosome 12 late-onset Alzheimer disease locus: potential genetic and phenotypic heterogeneity

artículo científico publicado en 2000

Flanking markers define the X-linked hypophosphatemic rickets gene locus

artículo científico publicado en 1993

Flanking markers for the gene causing von Recklinghausen neurofibromatosis (NF1)

artículo científico publicado en 1989

Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis

artículo científico publicado en 2009

Follow-up of loci from the International Genomics of Alzheimer's Disease Project identifies TRIP4 as a novel susceptibility gene

artículo científico publicado en 2014

Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6

artículo científico publicado en 2006

Functional impact of global rare copy number variation in autism spectrum disorders

artículo científico publicado en 2010

Further evidence linking late-onset Alzheimer disease with chromosome 12.

artículo científico publicado en 1999

Further exclusion of FSHD1B from the telomeric region of 10q

artículo científico publicado en 1997

GWAS analysis implicates NF-κB-mediated induction of inflammatory T cells in multiple sclerosis

artículo científico publicado en 2016

GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease

artículo científico publicado en 2013

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

artículo científico publicado en 2002

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

artículo científico publicado en 1993

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

artículo científico publicado en 2014

Genetic Association Analysis of Drusen Progression

artículo científico publicado en 2016

Genetic Variation in Genes Underlying Diverse Dementias May Explain a Small Proportion of Cases in the Alzheimer's Disease Sequencing Project

artículo científico publicado en 2018

Genetic analysis for common complex disease

artículo científico publicado en 2000

Genetic analysis of biological pathway data through genomic randomization

artículo científico publicado en 2011

Genetic analysis of complex diseases

scientific article published on 01 February 1997

Genetic analysis workshop IV: Huntington disease linkage analysis summary

scientific article published on 01 January 1986

Genetic analysis workshop IV: Huntington disease linkage analysis, data description

artículo científico publicado en 1986

Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score

artículo científico publicado en 2017

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

artículo científico publicado en 2017

Genetic basis for clinical expression in multiple sclerosis

artículo científico publicado en 2002

Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis

artículo científico

Genetic epidemiology of the susceptibility to leprosy

artículo científico publicado en 1987

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

artículo científico publicado en 1992

Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis

scientific journal article

Genetic heterogeneity in hereditary haemorrhagic telangiectasia: possible correlation with clinical phenotype

artículo científico publicado en 1994

Genetic linkage analysis of nerve growth factor (beta) in familial alzheimer's disease ⬇️

artículo científico publicado el 1 de agosto de 1991

Genetic linkage mapping of chromosome 17 markers and neurofibromatosis type I.

artículo científico publicado en 1989

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

article

Genetic linkage studies in Alzheimer's disease families

artículo científico publicado en 1988

Genetic linkage studies in Huntington disease ⬇️

artículo científico publicado el 1 de enero de 1978

Genetic linkage studies of chromosome 17 RFLPs in von Recklinghausen neurofibromatosis (NF1).

artículo científico publicado en 1987

Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26.

artículo científico publicado en 1993

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

artículo científico publicado en 2019

Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus

artículo científico publicado en 2015

Genetic polymorphisms of the N-acetyltransferase genes and risk of Parkinson's disease

artículo científico publicado en 2003

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

artículo científico publicado en 2013

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

artículo científico publicado en 2011

Genetic studies in Alzheimer's disease with an NACP/alpha-synuclein polymorphism

artículo científico publicado en 1996

Genetic studies in autistic disorder and chromosome 15.

artículo científico publicado en 2000

Genetic studies in neural tube defects. NTD Collaborative Group

artículo científico publicado en 2000

Genetic studies of autistic disorder and chromosome 7

artículo científico publicado en 1999

Genetic susceptibility to Alzheimer disease

artículo científico publicado en 1995

Genetic testing and corresponding services among individuals with autism spectrum disorder (ASD)

artículo científico publicado en 2014

Genetic variants and functional pathways associated with resilience to Alzheimer's disease

scientific article published on 01 August 2020

Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration

artículo científico publicado en 2010

Genetic variation in nitric oxide synthase 2A (NOS2A) and risk for multiple sclerosis

artículo científico publicado en 2008

Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility

artículo científico publicado en 2010

Genetically meaningful phenotypic subgroups in autism spectrum disorders

artículo científico publicado en 2014

Genetics and pathogenesis of multiple sclerosis

artículo científico publicado en 2009

Genetics of Multiple Sclerosis ⬇️

artículo científico publicado el 1 de enero de 1999

Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia

artículo científico publicado en 2012

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

artículo científico publicado en 2016

Genome-wide association and linkage study in the Amish detects a novel candidate late-onset Alzheimer disease gene

scientific journal article

Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias

artículo científico publicado en 2014

Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration

artículo científico publicado en 2014

Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease

artículo científico publicado en 2010

Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease

artículo científico publicado en 2009

Genome-wide association study of Alzheimer's disease

artículo científico publicado en 2012

Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease

scientific article published on 24 June 2019

Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease

artículo científico publicado en 2015

Genome-wide linkage scan in fuchs endothelial corneal dystrophy

artículo científico publicado en 2008

Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci

artículo científico publicado en 2011

Genome-wide pleiotropy analysis of neuropathological traits related to Alzheimer's disease

artículo científico publicado en 2018

Genome-wide scan for adult onset primary open angle glaucoma

artículo científico publicado en 2000

Genomewide Association Study of Retinal Traits in the Amish Reveals Loci Influencing Drusen Development and Link to Age-Related Macular Degeneration

artículo científico publicado en 2022

Genome‐wide meta‐analysis of late‐onset Alzheimer’s disease using rare variant imputation in 65,602 subjects identifies risk loci with roles in memory, neurodevelopment, and cardiometabolic traits: The international genomics of Alzheimer’s project (

artículo científico publicado en 2020

Genomic and epigenetic evidence for oxytocin receptor deficiency in autism

artículo científico publicado en 2009

Genomic convergence to identify candidate genes for Alzheimer disease on chromosome 10.

artículo científico publicado en 2009

Genomic screen and follow-up analysis for autistic disorder

artículo científico publicado en 2002

Genomic signatures of a global fitness index in a multi-ethnic cohort of women

artículo científico publicado en 2013

Genotype at polymorphism rs11200638 and HTRA1 expression level ⬇️

artículo científico publicado el 1 de noviembre de 2010

Genotype‐based association test for general pedigrees: The genotype‐PDT ⬇️

artículo científico publicado el 1 de noviembre de 2003

Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma ⬇️

artículo científico publicado el 1 de noviembre de 1998

Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk

artículo científico publicado en 2015

Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease

artículo científico publicado en 2003

HLA-DR2 dose effect on susceptibility to multiple sclerosis and influence on disease course

artículo científico publicado en 2003

Haplotype analysis in Icelandic families defines a minimal interval for the macular corneal dystrophy type I gene

artículo científico publicado en 1998

Haplotypes spanning the complement factor H gene are protective against age-related macular degeneration

artículo científico publicado en 2007

Hereditary motor and sensory neuropathy, X-linked: a half century follow-up

scientific article published on 01 September 1987

Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group

artículo científico publicado en 1996

Heritability of Choroidal Thickness in the Amish.

artículo científico publicado en 2016

Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis

artículo científico publicado en 2006

Heterogeneity in Paget disease of the bone

scientific article published on 01 June 2000

Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma

artículo científico publicado en 2014

Identification and Confirmation of an Exonic Splicing Enhancer Variation in Exon 5 of the Alzheimer Disease Associated PICALM Gene ⬇️

artículo científico publicado el 4 de septiembre de 2012

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

artículo científico publicado en 2001

Identification of Duchenne muscular dystrophy genomic probe P20 constant Taql fragment corresponding to the EcoRV and Mspl polymorphisms

artículo científico publicado en 1991

Identification of MeCP2 mutations in a series of females with autistic disorder

artículo científico publicado en 2003

Identification of Novel Genes in Late-Onset Alzheimer's Disease

article

Identification of TMEM230 mutations in familial Parkinson's disease

scientific journal article

Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7

artículo científico publicado en 1999

Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15.

artículo científico publicado en 1999

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

artículo científico publicado en 2013

Identification of chromosome 7 inversion breakpoints in an autistic family narrows candidate region for autism susceptibility

artículo científico publicado en 2009

Identification of novel candidate genes for Alzheimer's disease by autozygosity mapping using genome wide SNP data

artículo científico publicado en 2011

Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder

artículo científico publicado en 2017

Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease

artículo científico publicado en 2005

Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism

artículo científico publicado en 2005

Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis

artículo científico publicado en 2003

Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach

artículo científico publicado en 2011

Immune and Inflammatory Pathways Implicated by Whole Blood Transcriptomic Analysis in a Diverse Ancestry Alzheimer's Disease Cohort

artículo científico publicado en 2020

Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease

artículo científico publicado en 1993

Independent and epistatic effects of variants in VPS10-d receptors on Alzheimer disease risk and processing of the amyloid precursor protein (APP)

artículo científico publicado en 2013

Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration

artículo científico publicado en 2007

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

Inflammation, stem cells and atherosclerosis genetics

artículo científico publicado el 1 de diciembre de 2010

Influence of the susceptibility genes apolipoprotein E-epsilon 4 and apolipoprotein E-epsilon 2 on the rate of disease expressivity of late-onset Alzheimer's disease

artículo científico publicado en 1995

Inherited deletion at Duchenne dystrophy locus in normal male

scientific article published on 01 March 1989

Inherited deletion at Duchenne dystrophy locus in normal male

scientific article published on 01 November 1987

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

artículo científico publicado en 2013

Integrated whole transcriptome and DNA methylation analysis identifies gene networks specific to late-onset Alzheimer's disease

artículo científico publicado en 2015

Interaction between the alpha-T catenin gene (VR22) and APOE in Alzheimer's disease

artículo científico publicado en 2005

Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis

artículo científico publicado en 2007

Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA-CLEC16A-SOCS1 gene complex

artículo científico publicado en 2011

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

artículo científico publicado en 2004

Inverse association of female hormone replacement therapy with age-related macular degeneration and interactions with ARMS2 polymorphisms

artículo científico publicado en 2009

Investigation of autism and GABA receptor subunit genes in multiple ethnic groups

artículo científico publicado en 2006

Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk

artículo científico publicado en 2007

Investigation of seven proposed regions of linkage in multiple sclerosis: an American and French collaborative study

artículo científico publicado en 2003

Isoform-specific interactions of apolipoprotein E with microtubule-associated protein tau: implications for Alzheimer disease

artículo científico publicado en 1994

Isoform-specific interactions of apolipoprotein E with the microtubule-associated protein MAP2c: implications for Alzheimer's disease

artículo científico publicado en 1994

Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.

artículo científico publicado en 2017

Joint effects of smoking history and APOE genotypes in age-related macular degeneration

artículo científico publicado en 2005

Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene.

artículo científico publicado en 2006

KIAA1462, a coronary artery disease associated gene, is a candidate gene for late onset Alzheimer disease in APOE carriers

artículo científico publicado en 2013

Knock-Down DHDDS Expression Induces Photoreceptor Degeneration in Zebrafish

artículo científico publicado en 2014

Lack of association between UBQLN1 and Alzheimer disease

scientific article published on 01 April 2006

Lack of association between apolipoprotein E genotype and sporadic amyotrophic lateral sclerosis

artículo científico publicado en 1998

Lack of association between autism and SLC25A12

artículo científico publicado en 2006

Lack of association of VEGF promoter polymorphisms with sporadic ALS

artículo científico publicado en 2006

Lack of association of mutations in optineurin with disease in patients with adult-onset primary open-angle glaucoma

artículo científico publicado en 2003

Lack of association of very low density lipoprotein receptor gene polymorphism with Caucasian Alzheimer's disease

artículo científico publicado en 1996

Lack of support for association between the KIF1B rs10492972[C] variant and multiple sclerosis

artículo científico publicado en 2010

Lewy body and Alzheimer pathology in a family with the amyloid-beta precursor protein APP717 gene mutation

artículo científico publicado en 2000

Lewy body pathology is a frequent co-pathology in familial Alzheimer's disease

artículo científico publicado en 2003

Life after the screen: making sense of many P-values

artículo científico publicado en 2001

Linkage analyses in Caribbean Hispanic families identify novel loci associated with familial late-onset Alzheimer's disease

artículo científico publicado en 2015

Linkage analysis for age-related macular degeneration supports a gene on chromosome 10q26.

artículo científico publicado en 2004

Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets.

artículo científico publicado en 1993

Linkage analysis in familial amyotrophic lateral sclerosis

artículo científico publicado en 1989

Linkage analysis in the spinal muscular atrophy type of facioscapulohumeral disease.

artículo científico publicado en 1989

Linkage analysis in von Recklinghausen neurofibromatosis (NF1) with DNA markers for chromosome 17

artículo científico publicado en 1987

Linkage analysis of candidate myelin genes in familial multiple sclerosis

article

Linkage analysis of familial Alzheimer disease, using chromosome 21 markers

artículo científico publicado en 1991

Linkage analysis of peripheral neurofibromatosis to DNA markers on chromosome 8.

artículo científico publicado en 1987

Linkage and association analysis of chromosome 19q13 in multiple sclerosis

artículo científico publicado en 2001

Linkage and association of successful aging to the 6q25 region in large Amish kindreds

artículo científico publicado en 2012

Linkage and association study of late-onset Alzheimer disease families linked to 9p21.3.

artículo científico publicado en 2008

Linkage and association with the NOS2A locus on chromosome 17q11 in multiple sclerosis

artículo científico publicado en 2004

Linkage disequilibrium and haplotype tagging polymorphisms in the Tau H1 haplotype

artículo científico publicado en 2004

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families

artículo científico publicado en 2001

Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing

artículo científico publicado en 2005

Linkage localization of X-linked Charcot-Marie-Tooth disease.

artículo científico publicado en 1993

Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.

artículo científico publicado en 1994

Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17

scientific article published on 01 May 1989

Linkage of Familial Dilated Cardiomyopathy with Conduction Defect and Muscular Dystrophy to Chromosome 6q23 ⬇️

artículo científico publicado el 1 de octubre de 1997

Linkage of Parkinsonism and Alzheimer's disease with Lewy body pathology to chromosome 12

artículo científico publicado en 2002

Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q.

artículo científico publicado en 1992

Linkage of a Gene Causing Familial Focal Segmental Glomerulosclerosis to Chromosome 11 and Further Evidence of Genetic Heterogeneity

article

Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers

artículo científico publicado en 1998

Linkage of a gene causing familial amyotrophic lateral sclerosis to chromosome 21 and evidence of genetic-locus heterogeneity

artículo científico publicado en 1991

Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1

artículo científico publicado en 2002

Linkage of a gene for macular corneal dystrophy to chromosome 16

artículo científico publicado en 1996

Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q.

artículo científico publicado en 1993

Linkage of a locus for autosomal dominant familial spastic paraplegia to chromosome 2p markers

artículo científico publicado en 1994

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

scientific article published on 01 October 2000

Linkage of frontotemporal dementia to chromosome 17: clinical and neuropathological characterization of phenotype

artículo científico publicado en 1996

Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.

artículo científico publicado en 1994

Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31.

artículo científico publicado en 1996

Linkage of the CCR5 Delta 32 mutation with a functional polymorphism of CD45RA

scientific article published on 01 July 2000

Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity. The Multiple Sclerosis Genetics Group ⬇️

artículo científico publicado el 1 de agosto de 1998

Linkage studies in Charcot-Marie-Tooth disease type 2: evidence that CMT types 1 and 2 are distinct genetic entities

artículo científico publicado el 1 de marzo de 1992

Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage

artículo científico publicado en 1991

Linkage studies in familial Alzheimer's disease

artículo científico publicado en 1989

Linkage studies in peripheral neurofibromatosis.

artículo científico publicado en 1987

Linkage studies in tuberous sclerosis. Chromosome 9?, 11?, or maybe 14!

artículo científico publicado en 1991

Linkage studies of late-onset familial Alzheimer's disease

artículo científico publicado en 1990

Linkage to a known gene but no mutation identified: comprehensive reanalysis ofSPG4 HSP pedigrees reveals large deletions as the sole cause

article

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

artículo científico publicado en 1991

Localization of a Gene (CMT2A) for Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 to Chromosome 1p and Evidence of Genetic Heterogeneity

article

Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria

artículo científico publicado en 2009

Localization of cloned unique DNA to three different regions of chromosome 19: screen for linkage probes for myotonic dystrophy

artículo científico publicado en 1985

Locus heterogeneity, anticipation and reduction of the chromosome 2p minimal candidate region in autosomal dominant familial spastic paraplegia

artículo científico publicado en 1997

Longitudinal follow-up of late-onset Alzheimer disease families.

artículo científico publicado en 2008

Low frequency and rare coding variation contributes to multiple sclerosis risk

Lower Levels of Education Are Associated with Cognitive Impairment in the Old Order Amish

artículo científico publicado en 2020

Male-specific epistasis between WWC1 and TLN2 genes is associated with Alzheimer's disease

article

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

artículo científico publicado en 2007

Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans

artículo científico publicado en 2003

Mapping strategies for multiple linked markers

artículo científico publicado en 1989

Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events

article

Maternal lineages and Alzheimer disease risk in the Old Order Amish

artículo científico publicado en 2005

Memory self-appraisal in middle-aged and older adults with the apolipoprotein E-4 allele.

artículo científico publicado en 1999

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes

artículo científico publicado en 2010

Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

artículo científico publicado en 2013

Meta-analysis of genetic association with diagnosed Alzheimer's disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing

Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci

artículo científico publicado en 2009

Meta-analysis of genome scans of age-related macular degeneration

artículo científico publicado en 2005

Meta-analysis of the association between variants in SORL1 and Alzheimer disease

artículo científico publicado en 2011

Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.

artículo científico publicado en 2011

Migraine with Aura Susceptibility Locus on Chromosome 19p13 Is Distinct from the Familial Hemiplegic Migraine Locus ⬇️

artículo científico publicado el 1 de diciembre de 2001

Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype

artículo científico publicado en 1989

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

artículo científico publicado en 1998

Missense variant in TREML2 protects against Alzheimer's disease

scientific article published on 21 December 2013

Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration

artículo científico publicado en 2008

Mitochondrial Polymorphisms Significantly Reduce the Risk of Parkinson Disease

artículo científico publicado en 2003

Mitochondrial haplogroup X is associated with successful aging in the Amish

artículo científico publicado en 2011

Morphological, Biochemical, and Genetic Support for an Apolipoprotein E Effect on Microtubular Metabolisma

artículo científico publicado en 1996

Morphological, biochemical, and genetic support for an apolipoprotein E effect on microtubular metabolism

artículo científico publicado en 1996

Mspl RFLP for microtubule associated protein-2 (MAP2) ⬇️

artículo científico publicado el 25 de febrero de 1991

Multifactor dimensionality reduction reveals gene-gene interactions associated with multiple sclerosis susceptibility in African Americans

artículo científico publicado en 2006

Multilocus mapping of the X-linked hypophosphatemic rickets gene

artículo científico publicado el 1 de julio de 1992

Multiple rare SAPAP3 missense variants in trichotillomania and OCD.

artículo científico publicado en 2009

Multiple susceptibility loci for multiple sclerosis

scientific article published on 01 September 2002

Mutation K42E in Dehydrodolichol Diphosphate Synthase (DHDDS) Causes Recessive Retinitis Pigmentosa

article

Mutation analysis of the TSC2 gene in an African-American family

artículo científico publicado en 1995

Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene

artículo científico publicado en 1998

Mutation screening of spastin, atlastin, and REEP1 in hereditary spastic paraplegia

artículo científico publicado en 2011

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

artículo científico publicado en 2011

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

artículo científico publicado en 2012

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

artículo científico publicado en 2009

Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.

artículo científico publicado en 1996

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

artículo científico publicado en 2004

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

artículo científico publicado en 2006

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

artículo científico publicado en 2005

Myotilin is mutated in limb girdle muscular dystrophy 1A

artículo científico publicado en 2000

Myotonic dystrophy: update on progress to define the gene.

artículo científico publicado en 1988

Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism

artículo científico publicado en 2007

Neuropathological features of frontotemporal dementia and parkinsonism linked to chromosome 17q21-22 (FTDP-17): Duke Family 1684.

artículo científico publicado en 1999

New insights into the genetic etiology of Alzheimer's disease and related dementias

artículo científico publicado en 2022

No association between SNP rs498055 on chromosome 10 and late-onset Alzheimer disease in multiple datasets

artículo científico publicado en 2007

No association between alpha 1-antichymotrypsin and familial Alzheimer's disease

artículo científico publicado en 1996

No association between the APOE gene and autism

artículo científico publicado en 2004

No association between the HLA-A2 allele and Alzheimer disease.

artículo científico publicado en 1999

No association between the WNT2 gene and autistic disorder

artículo científico publicado en 2002

No association between very low density lipoprotein receptor (VLDL-R) and Alzheimer disease in American Caucasians

artículo científico publicado en 1996

No association of alpha1-antichymotrypsin flanking region polymorphism and Alzheimer disease risk in early- and late-onset Alzheimer disease patients

artículo científico publicado en 1998

No association or linkage between an intronic polymorphism of presenilin-1 and sporadic or late-onset familial Alzheimer disease

artículo científico publicado en 1997

No gene is an island: the flip-flop phenomenon

artículo científico publicado en 2007

No genetic association between the LRP receptor and sporadic or late-onset familial Alzheimer disease

artículo científico publicado en 1998

No genetic effect of alpha1-antichymotrypsin in Alzheimer disease

artículo científico publicado en 1996

North Carolina macular dystrophy (MCDR1) locus: a fine resolution genetic map and haplotype analysis

artículo científico publicado en 1999

North Carolina macular dystrophy is assigned to chromosome 6

artículo científico publicado en 1992

North Carolina macular dystrophy: exclusion map using RFLPs and microsatellites

artículo científico publicado en 1991

Notch activation induces endothelial cell senescence and pro-inflammatory response: implication of Notch signaling in atherosclerosis

artículo científico publicado en 2012

Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis ⬇️

artículo científico publicado en 2020

Novel Variants in LRRK2 and GBA Identified in Latino Parkinson Disease Cohort Enriched for Caribbean Origin

artículo científico publicado en 2020

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

artículo científico publicado en 2012

Novel variants identified in methyl-CpG-binding domain genes in autistic individuals

artículo científico publicado en 2009

OR.102. The CD58 Pathway is Implicated in MS Susceptibility

Ocular motility in North Carolina autosomal dominant ataxia

artículo científico publicado en 1996

One for all and all for One: Improving replication of genetic studies through network diffusion

artículo científico publicado en 2018

Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12

artículo científico publicado en 2004

Ordered-subset analysis of savant skills in autism for 15q11-q13.

artículo científico publicado en 2005

Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22.

artículo científico publicado en 2003

Osteopontin polymorphisms and disease course in multiple sclerosis

artículo científico publicado en 2003

Overall diet quality and age-related macular degeneration

artículo científico publicado en 2010

Overview of linkage analysis in complex traits

artículo científico publicado en 2001

P1‐139: TESTS OF DISEASE RISK VERSUS AGE AT ONSET: A POWER COMPARISON ⬇️

scholarly article

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

artículo científico publicado en 2015

PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility

artículo científico publicado en 2010

PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation

artículo científico publicado en 2014

PTPRC (CD45) is not associated with the development of multiple sclerosis in U.S. patients

artículo científico publicado en 2001

Paraoxonase cluster polymorphisms are associated with sporadic ALS

scientific article published on 05 July 2006

Parkin mutations and susceptibility alleles in late-onset Parkinson's disease

article

Parkinson disease loci in the mid-western Amish

scientific journal article

Parkinsonism and distinct dementia patterns in a family with the MAPT R406W mutation ⬇️

artículo científico publicado el 30 de mayo de 2013

Parsing the genetic heterogeneity of chromosome 12q susceptibility genes for Alzheimer disease by family-based association analysis

scientific article published on 13 June 2006

Pathway-PDT: a flexible pathway analysis tool for nuclear families

artículo científico publicado en 2013

Patterns of brain activation in people at risk for Alzheimer's disease.

artículo científico publicado en 2000

Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease

artículo científico publicado en 2007

Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias

artículo científico publicado en 1996

Peripheral reticular pigmentary change is associated with complement factor H polymorphism (Y402H) in age-related macular degeneration

artículo científico publicado en 2007

Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration

artículo científico publicado en 2007

Phenotypic Heterogeneity in Families with Age-related Macular Degeneration ⬇️

artículo científico publicado el 1 de septiembre de 1997

Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder

artículo científico publicado en 2002

Physical and Genetic Mapping of the CMT4A Locus and Exclusion of PMP-2 as the Defect in CMT4A

artículo científico publicado en 1995

Physical and cDNA mapping in the DBH region of human chromosome 9q34

artículo científico publicado en 2000

Polygenic Overlap Between C-Reactive Protein, Plasma Lipids, and Alzheimer Disease

artículo científico publicado en 2015

Polymorphisms of the tumor suppressor gene LSAMP are associated with left main coronary artery disease

artículo científico publicado en 2008

Power estimation for non-standardized multisite studies

artículo científico publicado en 2016

Prenatal detection of an inherited Duchenne muscular dystrophy deletion allele

artículo científico publicado en 1987

Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

scientific article published on 01 July 1988

Presenilin-1 polymorphism and Alzheimer's disease

scientific article published on 01 April 1996

Presenilin-1 polymorphism and Alzheimer's disease

scientific article published on 01 June 1996

Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies

artículo científico publicado en 1990

Prevalence of Mutations in TIGR/Myocilin in Patients with Adult and Juvenile Primary Open-Angle Glaucoma ⬇️

artículo científico publicado el 1 de noviembre de 1998

Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa

scientific article published on 01 October 2002

Prognosis in familial amyotrophic lateral sclerosis: progression and survival in patients with glu100gly and ala4val mutations in Cu,Zn superoxide dismutase

scientific article published on 01 January 1997

Progression Rate From Intermediate to Advanced Age-Related Macular Degeneration Is Correlated With the Number of Risk Alleles at the CFH Locus

artículo científico publicado en 2016

Promiscuous expression of myosin in myotonic dystrophy

artículo científico publicado en 1986

Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration

scientific article published on 18 June 2007

Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease

artículo científico publicado en 1998

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

artículo científico publicado en 2008

REPORT on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4–6, 1996 ⬇️

artículo científico publicado el 1 de mayo de 1997

RFLPs at the D19S19 locus of human chromosome 19 linked to myotonic dystrophy (DM).

artículo científico publicado en 1986

RNA editing alterations in a multi-ethnic Alzheimer disease cohort converge on immune and endocytic molecular pathways

artículo científico publicado en 2019

Rapid dissection of the genetic risk of age-related macular degeneration: achieving the promise of the genomic era

artículo científico publicado en 2007

Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration

artículo científico publicado en 2014

Rare complement factor H variant associated with age-related macular degeneration in the Amish

artículo científico publicado en 2014

Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease

Rare variant APOC3 R19X is associated with cardio-protective profiles in a diverse population-based survey as part of the Epidemiologic Architecture for Genes Linked to Environment Study

artículo científico publicado en 2014

Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish

artículo científico publicado en 2019

Rarity of the Alzheimer disease-protective APP A673T variant in the United States

artículo científico publicado en 2015

Recombinant DNA strategies in genetic neurological diseases

artículo científico publicado en 1983

Recombination of 4p16 DNA markers in an unusual family with Huntington disease.

artículo científico publicado en 1992

Recruiting Intergenerational African American Males for Biomedical Research Studies: A Major Research Challenge ⬇️

artículo científico publicado el 1 de junio de 2011

Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432.

artículo científico publicado en 2002

Regional Differential Genetic Response of Human Articular Cartilage to Impact Injury

artículo científico publicado en 2015

Regional mapping of facioscapulohumeral muscular dystrophy gene on 4q35: combined analysis of an international consortium ⬇️

artículo científico publicado el 1 de agosto de 1992

Relationship between depressive symptoms and cognition in older, non-demented African Americans

artículo científico publicado en 2014

Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians ⬇️

artículo científico publicado el 27 de octubre de 2012

Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor

scientific article published on 18 March 2009

Reply

Reply to ‘TMEM230 variants in Parkinson’s disease’ and ‘Doubts about TMEM230 as a gene for parkinsonism’

artículo científico publicado en 2019

Report of the Second International Workshop on Human Chromosome 19 mapping 1992

artículo científico publicado el 1 de enero de 1992

Report of the committee on the genetic constitution of chromosome 19.

artículo científico publicado en 1990

Report of the committee on the genetic constitution of chromosomes 18 and 19

artículo científico publicado en 1988

Report of the committee on the genetic constitution of chromosomes 18 and 19.

artículo científico publicado en 1989

Reproducibility of qualitative assessment of drusen volume in eyes with age related macular degeneration

artículo científico publicado en 2020

Resolving the relationship between ApolipoproteinE and depression

artículo científico publicado en 2009

Response to Zaykin and Shibata

Retinal Sensitivity Using Microperimetry in Age-Related Macular Degeneration in an Amish Population

scientific article published on 01 September 2019

Revealing the role of glutathione S-transferase omega in age-at-onset of Alzheimer and Parkinson diseases

artículo científico publicado en 2005

Risk alleles for multiple sclerosis identified by a genomewide study

artículo científico publicado en 2007

Rsal RFLP for electron transport flavoprotein-beta(ETFB) ⬇️

artículo científico publicado el 25 de julio de 1991

SLITRK1 mutations in trichotillomania

artículo científico publicado en 2006

SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease

artículo científico publicado en 2000

SNPs in Multi-species Conserved Sequences (MCS) as useful markers in association studies: a practical approach

artículo científico publicado en 2007

SNPselector: a web tool for selecting SNPs for genetic association studies

artículo científico publicado en 2005

SORCS1 alters amyloid precursor protein processing and variants may increase Alzheimer's disease risk

artículo científico publicado en 2011

SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians

artículo científico publicado en 2013

SORL1 mutations in early- and late-onset Alzheimer disease

artículo científico publicado en 2016

Sample degradation leads to false-positive copy number variation calls in multiplex real-time polymerase chain reaction assays.

artículo científico publicado en 2008

Scientific Advising and Reviewing: On strengthening the bond between the Alzheimer's Association and the scientific community

scientific article published on 19 May 2020

Segregation analysis in cutaneous malignant melanoma/dysplastic nevus syndrome families ⬇️

artículo científico publicado el 1 de enero de 1992

Segregation and linkage analysis of alpha-N-acetyl-D-glucosaminidase (NAG) levels in a black family

artículo científico publicado en 1985

Segregation of a rare TTC3 variant in an extended family with late-onset Alzheimer disease

artículo científico publicado en 2016

Sequence variation in the transforming growth factor-beta1 (TGFB1) gene and multiple sclerosis susceptibility

artículo científico publicado en 2001

Set-based joint test of interaction between SNPs in the VEGF pathway and exogenous estrogen finds association with age-related macular degeneration

artículo científico publicado en 2014

Seven new loci associated with age-related macular degeneration

artículo científico publicado en 2013

Sex differences in the genetic predictors of Alzheimer's pathology

scientific article published on 01 September 2019

Sib-pair linkage analysis in late onset Alzheimer's disease

artículo científico publicado en 1989

Spectrum of disease in familial focal and segmental glomerulosclerosis

artículo científico publicado en 1999

Statistical Viewer: a tool to upload and integrate linkage and association data as plots displayed within the Ensembl genome browser

artículo científico publicado en 2005

Subcellular localization of spastin: implications for the pathogenesis of hereditary spastic paraplegia

artículo científico publicado en 2005

Successful aging shows linkage to chromosomes 6, 7, and 14 in the Amish

scientific article published on July 2011

Support of linkage of Gerstmann-Sträussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter ⬇️

artículo científico publicado el 1 de febrero de 1991

Systematic gene mapping in man: data management considerations

artículo científico publicado en 1988

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants

artículo científico publicado en 2015

Targeted sequencing of ABCA7 identifies splicing, stop-gain and intronic risk variants for Alzheimer disease

artículo científico publicado en 2017

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita ⬇️

artículo científico publicado el 21 de febrero de 1992

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

artículo científico publicado en 2018

The 2022 symposium on dementia and brain aging in low- and middle-income countries: Highlights on research, diagnosis, care, and impact

artículo científico publicado en 2024

The ARMS2 A69S variant and bilateral advanced age-related macular degeneration

artículo científico publicado en 2012

The Alzheimer's Disease Sequencing Project: Study design and sample selection

artículo científico publicado en 2017

The Application of Genetic Risk Scores in Age-Related Macular Degeneration: A Review

artículo científico publicado en 2016

The CALHM1 P86L polymorphism is a genetic modifier of age at onset in Alzheimer's disease: a meta-analysis study

artículo científico publicado en 2010

The Carnitine Shuttle Pathway is Altered in Patients With Neovascular Age-Related Macular Degeneration

artículo científico publicado en 2018

The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family

artículo científico publicado en 1994

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

scholarly article published 13 July 2017

The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables

artículo científico publicado en 2013

The Puerto Rico Alzheimer Disease Initiative (PRADI): A Multisource Ascertainment Approach

scientific article published on 19 June 2019

The Q7R Saitohin gene polymorphism is not associated with Alzheimer disease

artículo científico publicado en 2003

The Relationship Between Reticular Pseudodrusen and Severity of AMD

artículo científico publicado en 2015

The apolipoprotein E E4 allele and sex-specific risk of Alzheimer's disease

artículo científico publicado en 1995

The distinction between juvenile and adult-onset primary open-angle glaucoma

artículo científico publicado en 1996

The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.

artículo científico publicado en 2012

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

artículo científico publicado en 2001

The genetic epidemiology of multiple sclerosis

artículo científico publicado en 2003

The human glycine receptor: a new probe that is linked to the X-linked hypophosphatemic rickets gene

artículo científico publicado en 1990

The impact of the human genome project on complex disease

artículo científico publicado en 2014

The ischemic exercise test in normal adults and in patients with weakness and cramps

scientific article published on 01 March 1986

The relationship between restrictive and repetitive behaviors in individuals with autism and obsessive compulsive symptoms in parents

artículo científico publicado en 2005

The role of the CD58 locus in multiple sclerosis

artículo científico publicado en 2009

The ubiquilin 1 gene and Alzheimer's disease

artículo científico publicado en 2005

The α-synuclein gene is not a major risk factor in familial Parkinson disease

article

There is a pathologic relationship between ApoE-epsilon 4 and Alzheimer's disease

scientific article published on 01 July 1995

Three Brothers With Autism Carry a Stop-Gain Mutation in the HPA-Axis Gene NR3C2

scientific article published on 17 February 2020

Three probands with autistic disorder and isodicentric chromosome 15.

artículo científico publicado en 2000

Thrombotic storm revisited: preliminary diagnostic criteria suggested by the thrombotic storm study group

artículo científico publicado en 2011

Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19

artículo científico publicado en 1986

Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19

artículo científico publicado en 1990

Time for Well-Powered Controlled Prospective Studies to test a Causal Role for Herpes Viruses in Alzheimer Using Anti-Herpes Drugs

artículo científico publicado en 2019

Transcriptomic analysis of synovial extracellular RNA following knee trauma: A pilot study

artículo científico publicado en 2017

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis

artículo científico publicado en 2015

Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans

artículo científico publicado en 2016

UTILIZING CRISPR TO INVESTIGATE AN ETHNIC SPECIFIC DELETION IN ABCA7 ⬇️

artículo científico publicado en 2019

Update on the molecular genetics of Duchenne muscular dystrophy

artículo científico publicado en 1988

Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31

artículo científico publicado en 1998

Use of local genetic ancestry to assess TOMM40-523' and risk for Alzheimer disease

scientific article published on 03 March 2020

Using Neural Networks as an Aid in the Determination of Disease Status: Comparison of Clinical Diagnosis to Neural-Network Predictions in a Pedigree with Autosomal Dominant Limb-Girdle Muscular Dystrophy ⬇️

artículo científico publicado el 1 de abril de 1998

Using genetic variation and environmental risk factor data to identify individuals at high risk for age-related macular degeneration

artículo científico publicado en 2011

Utility of blood pressure genetic risk score in admixed Hispanic samples.

artículo científico publicado en 2016

Variants at chromosome 10q26 locus and the expression of HTRA1 in the retina

artículo científico publicado en 2013

Variants in chondroitin sulfate metabolism genes in thrombotic storm

artículo científico publicado en 2017

Variants in several genomic regions associated with asperger disorder

scientific journal article

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans

artículo científico publicado en 2013

Variation within DNA repair pathway genes and risk of multiple sclerosis

artículo científico publicado en 2010

Vascular tone pathway polymorphisms in relation to primary open-angle glaucoma

artículo científico publicado en 2014

Vitamin D from different sources is inversely associated with Parkinson disease

artículo científico publicado en 2014

Vitamin D receptor and Alzheimer's disease: a genetic and functional study ⬇️

artículo científico publicado el 4 de febrero de 2012

Whole exome sequencing of extreme age-related macular degeneration phenotypes

artículo científico publicado en 2016

Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

article

Whole genome sequencing of Caribbean Hispanic families with late-onset Alzheimer's disease.

artículo científico publicado en 2018

Whole-Exome Sequencing Identifies Novel Risk Variant for Thrombotic Storm ⬇️

artículo científico publicado en 2011

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

artículo científico publicado en 2011

X-linked neuropathy: gene localization with DNA probes

artículo científico publicado en 1986

hVGAT-mCherry: A novel molecular tool for analysis of GABAergic neurons derived from human pluripotent stem cells

artículo científico publicado en 2015

myotilin Mutation found in second pedigree with LGMD1A

artículo científico publicado en 2002

Lista de obras de Margaret A Pericak-Vance

17. Regional mapping of the facioscapulohumeral muscular dystrophy gene on 4q35: linkage analysis of the International Consortium

A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.

A Bgl II polymorphism detected by LDR152 [D19S19].

A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium

A Common Variant of IL-6R is Associated with Elevated IL-6 Pathway Activity in Alzheimer's Disease Brains

A Community's Awareness and Perceptions of Genomic Medicine

A Novel Long and Unstable CAG/CTG Trinucleotide Repeat on Chromosome 17q ⬇️

A SAGE study of apolipoprotein E3/3, E3/4 and E4/4 allele-specific gene expression in hippocampus in Alzheimer disease

A StuI polymorphism on chromosome 3p14.1-14.2 (D3S622) defined by two polymorphic StuI sites 2.4 kb apart.

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

A comparative analysis of the information content in long and short SAGE libraries

A comparison of repetitive behaviors in Aspergers Disorder and high functioning autism

A complete genomic screen for multiple sclerosis underscores a role for the major histocompatability complex. The Multiple Sclerosis Genetics Group

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

A de novo 1.5 Mb microdeletion on chromosome 14q23.2‐23.3 in a patient with autism and spherocytosis ⬇️

A de novo frame-shift mutation in the tuberin gene ⬇️

A duplication in chromosome 4q35 is associated with hereditary benign intraepithelial dyskeratosis

A genome-wide association study of autism reveals a common novel risk locus at 5p14.1

A genome-wide linkage analysis of dementia in the Amish

A genome-wide linkage screen in the Amish with Parkinson disease points to chromosome 6

A genome-wide scan for common alleles affecting risk for autism

A genome-wide search for linkage to asthma phenotypes in the genetics of asthma international network families: evidence for a major susceptibility locus on chromosome 2p.

A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study

A high-density screen for linkage in multiple sclerosis

A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC.

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

A major histocompatibility Class I locus contributes to multiple sclerosis susceptibility independently from HLA-DRB1*15:01.

A molecular genetic approach to amyotrophic lateral sclerosis

A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis

A new locus for dominant hereditary spastic paraplegia maps to chromosome 2p12

A new probe for the diagnosis of myotonic muscular dystrophy

A new tightly linked DNA probe for myotonic dystrophy

A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis

A novel ARMS2 splice variant is identified in human retina

A novel Alzheimer disease locus located near the gene encoding tau protein.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

A novel duplication involving <i>PRDM13</i> in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1)

A novel mutation in the von Hippel-Lindau gene

A novel splice site mutation (156 + 1G-->A) in the TSC2 gene

A pooled case-control study of the apolipoprotein E (APOE) gene in age-related maculopathy

A population-specific reference panel empowers genetic studies of Anabaptist populations

A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease

A rare mutation in UNC5C predisposes to late-onset Alzheimer's disease and increases neuronal cell death

A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene

A second leaky splice-site mutation in the spastin gene

A second major histocompatibility complex susceptibility locus for multiple sclerosis

A second-generation genomic screen for multiple sclerosis

ABCA7 frameshift deletion associated with Alzheimer disease in African Americans.

ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology

AMISH EYE STUDY: Baseline Spectral Domain Optical Coherence Tomography Characteristics of Age-Related Macular Degeneration

APOE Promoter Polymorphism-219T/G is an Effect Modifier of the Influence of APOE ε4 on Alzheimer's Disease Risk in a Multiracial Sample

APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers

APOE is not associated with Alzheimer disease: a cautionary tale of genotype imputation

ASSOCIATION OF DRUSEN VOLUME WITH CHOROIDAL PARAMETERS IN NONNEOVASCULAR AGE-RELATED MACULAR DEGENERATION.

Absence of linkage of ABO blood group locus to familial tuberous sclerosis

Absence of mutation in the beta- and gamma-synuclein genes in familial autosomal dominant Parkinson's disease.

Adult-Onset Primary Open Angle Glaucoma Does Not Localize to Chromosome 2cen-q13 in North American Families ⬇️

Advances in the genomics of common eye diseases

African American participation in health-related research studies: indicators for effective recruitment

Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample

Age at onset in two common neurodegenerative diseases is genetically controlled

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Age-of-onset heterogeneity in Huntington disease families ⬇️

Age-related maculopathy: a genomewide scan with continued evidence of susceptibility loci within the 1q31, 10q26, and 17q25 regions

Allelic association of sequence variants in the herpes virus entry mediator-B gene (PVRL2) with the severity of multiple sclerosis

Alzheimer disease (AD) specific transcription, DNA methylation and splicing in twenty AD associated loci

Alzheimer's disease and apolipoprotein E-4 allele in an Amish population

An Improved Workflow for miRNA Expression Profiling Using Ion Semiconductor Sequencing

An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males

An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease

An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder

An association analysis of Alzheimer disease candidate genes detects an ancestral risk haplotype clade in ACE and putative multilocus association between ACE, A2M, and LRRTM3.

An autosomal genomic screen for dementia in an extended Amish family

An exclusion map for facioscapulohumeral (Landouzy-Déjérine) disease

An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy

Analysis of European mitochondrial haplogroups with Alzheimer disease risk