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Lista de obras de Jacques S. Beckmann

(TG)n uncovers a sex-specific hybridization pattern in cattle.

artículo científico publicado en 1990

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

artículo científico publicado en 2014

16p11.2 Locus modulates response to satiety before the onset of obesity.

artículo científico publicado en 2015

16q24.1 microdeletion in a premature newborn: usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn

artículo científico publicado en 2011

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

artículo científico publicado en 2015

A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey ⬇️

artículo científico publicado el 1 de agosto de 1997

A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families

artículo científico publicado en 2000

A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies

artículo científico publicado en 1999

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p

article

A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B

artículo científico publicado en 1998

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

artículo científico publicado en 2012

A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer

artículo científico publicado en 2020

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders

artículo científico publicado en 2014

A highly significant association between a COMT haplotype and schizophrenia.

artículo científico publicado en 2002

A homeobox gene, vax2, controls the patterning of the eye dorsoventral axis

artículo científico publicado en 1999

A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites

article

A modular approach for integrative analysis of large-scale gene-expression and drug-response data

artículo científico publicado en 2008

A multi-SNP locus-association method reveals a substantial fraction of the missing heritability

artículo científico publicado en 2012

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

artículo científico publicado en 2010

A new minisatellite probe shows highly polymorphic hybridization pattern in human ⬇️

artículo científico publicado el 25 de febrero de 1992

A paradigm for single nucleotide polymorphism analysis: the case of the acetylcholinesterase gene

artículo científico publicado en 2004

A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene.

artículo científico publicado en 1995

A simple feeder-layer technique for the plating of plant cells and protoplasts at low density

article

A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance

artículo científico publicado en 2009

A susceptibility locus for early-onset non-insulin dependent (type 2) diabetes mellitus maps to chromosome 20q, proximal to the phosphoenolpyruvate carboxykinase gene

article

A unique set of SH3-SH3 interactions controls IB1 homodimerization

artículo científico publicado en 2006

AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia

artículo científico publicado en 2006

Adhalin gene polymorphism

article

Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy.

artículo científico publicado en 1996

An STS map of the limb girdle muscular dystrophy type 2A region.

artículo científico publicado en 1995

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

artículo científico publicado en 1999

Analysis of genetic polymorphisms in acetylcholinesterase as reflected in different populations

artículo científico publicado en 2005

Association Down syndrome-retinoblastoma: a new observation

artículo científico publicado en 2005

Association between C-reactive protein and adiposity in women

artículo científico publicado en 2009

Association of ABCB1 genetic variants with renal function in Africans and in Caucasians

artículo científico publicado en 2008

Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD.

artículo científico publicado en 2011

Automated four-color interphase fluorescence in situ hybridization approach for the simultaneous detection of specific aneuploidies of diagnostic and prognostic significance in high hyperdiploid acute lymphoblastic leukemia

article by Anna Talamo Blandin et al published October 2008 in Cancer Genetics and Cytogenetics

Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.

artículo científico publicado en 1999

Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3

artículo científico publicado en 2009

Bases moléculaires des dystrophies musculaires progressives à transmission autosomique récessive

article

Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate

artículo científico publicado en 1998

Binding of the termination factor ϱ to DNA ⬇️

artículo científico publicado el 21 de mayo de 1971

Blocking Apoptotic Intracellular Signaling Cascades with Cell-Permeable Peptides

CATSPER2, a human autosomal nonsyndromic male infertility gene

article

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

artículo científico publicado en 2017

CNVs and genetic medicine (excitement and consequences of a rediscovery).

artículo científico publicado en 2008

COVID-19 Disease Map, a computational knowledge repository of SARS-CoV-2 virus-host interaction mechanisms

CUBN is a gene locus for albuminuria

artículo científico publicado en 2011

Caffeine intake and CYP1A2 variants associated with high caffeine intake protect non-smokers from hypertension

Calcium phosphate transfection generates mammalian recombinant cell lines with higher specific productivity than polyfection

artículo científico publicado en 2008

Calcium- and proteasome-dependent degradation of the JNK scaffold protein islet-brain 1.

artículo científico publicado en 2003

Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans

artículo científico publicado en 2003

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

artículo científico publicado en 1999

Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance

artículo científico publicado en 2008

Can we afford to sequence every newborn baby's genome?

artículo científico publicado en 2015

Cardiac Myosin Binding Protein C Gene Is Specifically Expressed in Heart During Murine and Human Development ⬇️

artículo científico publicado el 9 de enero de 1998

Cardiovascular response to beta-adrenergic blockade or activation in 23 inbred mouse strains

artículo científico publicado en 2009

Carriers of the fragile X mental retardation 1 (FMR1) premutation allele present with increased levels of cytokine IL-10.

artículo científico publicado en 2012

Cell-permeable peptides induce dose- and length-dependent cytotoxic effects

artículo científico publicado en 2007

Clarity and claims in variation/mutation databasing

artículo científico publicado en 2011

Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

artículo científico publicado en 1998

Cloning quantitative trait loci by insertional mutagenesis

artículo científico publicado en 1987

Common genetic variation and the control of HIV-1 in humans

artículo científico publicado en 2009

Common variants associated with plasma triglycerides and risk for coronary artery disease

artículo científico publicado en 2013

Common variants near MC4R are associated with fat mass, weight and risk of obesity

artículo científico publicado en 2008

Computational problems in perfect phylogeny haplotyping: typing without calling the allele

artículo científico publicado en 2008

Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15.

artículo científico publicado en 1992

Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1

artículo científico publicado en 2002

Contribution of 20 single nucleotide polymorphisms of 13 genes to dyslipidemia associated with antiretroviral therapy

artículo científico publicado en 2007

Copy Number Variations and Cognitive Phenotypes in Unselected Populations

scholarly article

Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability

artículo científico publicado en 2007

Copy number variations and cognitive phenotypes in unselected populations

artículo científico publicado en 2015

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2016

Corrigendum: Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy

scholarly article published in Nature Genetics

DNA segments mapped by reciprocal use of microsatellite primers between mouse and rat

artículo científico publicado en 1993

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

artículo científico publicado en 2015

Defining the role of common variation in the genomic and biological architecture of adult human height

artículo científico publicado en 2014

Detection of linkage between marker loci and loci affecting quantitative traits in crosses between segregating populations

artículo científico publicado en 1988

Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations

artículo científico publicado en 2019

Dimeric tRNA precursors in yeast.

artículo científico publicado en 1980

Dinucleotide repeat polymorphism at D15S221

scientific article published on 01 February 1994

Dinucleotide repeat polymorphism at the human gene for cardiac beta-myosin heavy chain (MYH6)

artículo científico publicado el 1 de abril de 1992

Dinucleotide repeat polymorphism at the human liver arginase gene (ARG1) ⬇️

artículo científico publicado el 11 de marzo de 1992

Dinucleotide repeat polymorphism at the human poly (ADP-ribose) polymerase gene (PPOL) ⬇️

artículo científico publicado el 11 de marzo de 1992

Dinucleotide repeat polymorphism at the locus D15S222.

artículo científico publicado en 1993

Discovery and refinement of loci associated with lipid levels

artículo científico publicado en 2013

Dynamic molecular combing: stretching the whole human genome for high-resolution studies.

artículo científico publicado en 1997

Dysferlin is a plasma membrane protein and is expressed early in human development

artículo científico publicado en 1999

Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53.

artículo científico publicado en 2011

Elevated amounts of methotrexate-binding protein, different from normal dihydrofolate reductase, in a petunia MTX(R)-cell line

artículo científico publicado en 1987

Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.

artículo científico publicado en 2011

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2011

Estimating locus heterogeneity in autosomal dominant polycystic kidney disease (ADPKD) in the Spanish population

artículo científico publicado en 1993

Exclusion of linkage between hypokalemic periodic paralysis (HOKPP) and three candidate loci

scientific article published on 01 October 1992

Exclusion of the 15q locus as a candidate gene for severe childhood autosomal recessive Duchenne-like muscular dystrophy in Brazilian families

article

Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.

artículo científico publicado en 2011

Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development

artículo científico publicado en 1998

FTO genotype is associated with phenotypic variability of body mass index

artículo científico publicado en 2012

Familial occurrence of an association of multiple intestinal atresia and choanal atresia: A new syndrome?

Fetus with two identical reciprocal translocations: description of a rare complication of consanguinity

artículo científico publicado en 2006

Fine mapping of AHI1 as a schizophrenia susceptibility gene: from association to evolutionary evidence

artículo científico publicado en 2010

Fine mapping of a schizophrenia susceptibility locus at chromosome 6q23: increased evidence for linkage and reduced linkage interval

article

FoldIndex: a simple tool to predict whether a given protein sequence is intrinsically unfolded

artículo científico publicado en 2005

Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A

artículo científico publicado en 1998

G-418, an elongation inhibitor of 80 S ribosomes ⬇️

artículo científico publicado el 13 de octubre de 1983

GA4GH: International policies and standards for data sharing across genomic research and healthcare

artículo científico publicado en 2021

GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics

scientific article published on 20 August 2013

Genetic characterization of CHO production host DG44 and derivative recombinant cell lines.

artículo científico publicado en 2005

Genetic determinants of diastolic and pulse pressure map to different loci in Lyon hypertensive rats

article by Christopher Dubay et al published April 1993 in Nature Genetics

Genetic evidence of assortative mating in humans

scholarly article

Genetic heterogeneity of autosomal recessive limbgirdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus

artículo científico publicado en 1995

Genetic loci influencing kidney function and chronic kidney disease

artículo científico publicado en 2010

Genetic male infertility and mutation of CATSPER ion channels.

artículo científico publicado en 2010

Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23–q24.1

scientific article published on 01 January 1995

Genetic polymorphism in varietal identification and genetic improvement

artículo científico publicado en 1983

Genetic studies of body mass index yield new insights for obesity biology

artículo científico publicado en 2015

Genetic testing in patients with obesity.

artículo científico

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

artículo científico publicado en 2011

Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study

artículo científico publicado en 2010

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

artículo científico publicado en 2011

Genome-wide Association Studies Identify Genetic Loci Associated With Albuminuria in Diabetes.

artículo científico publicado en 2015

Genome-wide association study identifies 48 common genetic variants associated with handedness

artículo científico publicado en 2020

Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy

artículo científico publicado en 2010

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

artículo científico publicado en 2011

Genome-wide association study identifies two loci strongly affecting transferrin glycosylation

artículo científico publicado en 2011

Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links

artículo científico publicado en 2014

Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene

artículo científico publicado en 2010

Genome-wide meta-analysis of common variant differences between men and women

artículo científico publicado en 2012

Genome-wide prediction of matrix attachment regions that increase gene expression in mammalian cells

artículo científico publicado en 2007

Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase

artículo científico publicado en 2011

Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin

artículo científico publicado en 2008

Germ-line gene therapy a misnomer? ⬇️

artículo científico publicado el 29 de diciembre de 1984

Global transcriptional programs in peripheral nerve endoneurium and DRG are resistant to the onset of type 1 diabetic neuropathy in Ins2 mice

artículo científico publicado en 2010

Great future or greedy venture: Precision medicine needs philosophy

artículo científico publicado en 2021

HLA and HIV: modeling adaptation to moving targets

article

High-level transgene expression by homologous recombination-mediated gene transfer

artículo científico publicado en 2011

Homogeneous and nonradioactive high-throughput screening platform for the characterization of kinase inhibitors in cell lysates.

artículo científico publicado en 2006

How neutral are synonymous codon mutations?

article published in 1995

Human-mouse differences in the embryonic expression patterns of developmental control genes and disease genes.

artículo científico publicado en 2000

Hundreds of variants clustered in genomic loci and biological pathways affect human height

artículo científico publicado en 2010

IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation

artículo científico publicado en 2015

Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort

artículo científico publicado en 2012

Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy

artículo científico publicado en 2005

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

artículo científico publicado en 2013

Identification of muscle-specific calpain and β-sarcoglycan genes in progressive autosomal recessive muscular dystrophies

article

Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice

artículo científico publicado en 2006

In vitro transcription and processing of a yeast tRNA gene containing an intervening sequence.

artículo científico publicado en 1979

In vitro whole-genome analysis identifies a susceptibility locus for HIV-1.

artículo científico publicado en 2008

Influence of CRTC1 polymorphisms on body mass index and fat mass in psychiatric patients and the general adult population

artículo científico publicado en 2013

Interactions of sendai virus with plant protoplasts

article

Intracellular Stress Signaling Pathways Activated During Human Islet Preparation and Following Acute Cytokine Exposure

artículo científico publicado en 2004

Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers

artículo científico publicado en 2014

Isolation and nucleotide sequence of a plant tRNA gene: petunia asparagine tRNA ⬇️

artículo científico publicado el 25 de febrero de 1983

Isolation of methotrexate-resistant cell lines in Petunia hybrida upon stepwise selection procedure.

artículo científico publicado en 1984

JNK3 is abundant in insulin-secreting cells and protects against cytokine-induced apoptosis

artículo científico publicado en 2009

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant

artículo científico publicado en 2012

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

artículo científico publicado en 2012

Lessons from the Genome-Wide Association Studies for Complex Multifactorial Disorders and Traits

article

Limb Girdle Muscular Dystrophy Type 2A (CAPN3): Mapping Using Allelic Association

scholarly article by Christine Lonjou et al published 1998 in Human Heredity

Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).

artículo científico publicado en 1998

Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.

artículo científico publicado en 2009

Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa

artículo científico publicado en 1994

Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I

article

Loss of calpain 3 proteolytic activity leads to muscular dystrophy and to apoptosis-associated IkappaBalpha/nuclear factor kappaB pathway perturbation in mice.

artículo científico publicado en 2000

MMP13mutations are the cause of recessive metaphyseal dysplasia, Spahr type

Mapping Using Linkage Disequilibrium Estimates: A Comparative Study

article

Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis.

artículo científico publicado en 1995

Mapping genetic variants associated with beta-adrenergic responses in inbred mice

artículo científico publicado en 2012

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

artículo científico publicado en 1993

Mapping of the formin gene and exclusion as a candidate gene for the autosomal recessive form of limb-girdle muscular dystrophy

artículo científico publicado el 1 de noviembre de 1992

Mapping of two chromosome 15 microsatellites

artículo científico publicado en 1992

Marker-based mapping of quantitative trait loci using replicated progenies

artículo científico publicado en 1990

Mendelian disorders deserve more attention

artículo científico publicado en 2006

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

artículo científico publicado en 2012

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2010

Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

artículo científico publicado en 2009

Methods for testing association between uncertain genotypes and quantitative traits

artículo científico publicado en 2010

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Molecular adaptations of neuromuscular disease-associated proteins in response to eccentric exercise in human skeletal muscle.

artículo científico publicado en 2002

Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).

artículo científico publicado en 2006

Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features.

artículo científico publicado en 2000

Mutation screening of the glutamate cysteine ligase modifier (GCLM) gene in patients with schizophrenia.

artículo científico publicado en 2009

Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group.

artículo científico publicado en 1999

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia

artículo científico publicado en 2009

Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM)

artículo científico publicado en 2006

Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma

artículo científico publicado en 2011

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

artículo científico publicado en 2013

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

artículo científico publicado en 2014

Novel method to estimate the phenotypic variation explained by genome-wide association studies reveals large fraction of the missing heritability

artículo científico publicado en 2011

Oligonucleotide Polymorphisms: A New Tool for Genomic Genetics

article

On the applicability of a haplotype map to un-assayed populations

article by Itsik Pe’er & Jacques S Beckmann published 25 October 2003 in Human Genetics

On ubiquitin ligases and cancer

artículo científico publicado en 2005

Orexin and sleep quality in anorexia nervosa: Clinical relevance and influence on treatment outcome

artículo científico publicado en 2015

Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle.

artículo científico publicado en 2001

Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.

artículo científico publicado en 2009

Peroxisomal and microsomal lipid pathways associated with resistance to hepatic steatosis and reduced pro-inflammatory state

artículo científico publicado en 2010

Pharmacogenetics of glatiramer acetate therapy for multiple sclerosis reveals drug-response markers

artículo científico publicado en 2007

Physical mapping of plastid DNA variation among eleven Nicotiana species

article

Physiology and genetics of carbamoylphosphate synthesis in Escherichia coli K12.

artículo científico publicado en 1974

Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype

artículo científico publicado en 2013

Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay

artículo científico publicado en 2008

Prenatal diagnosis of limb-girdle muscular dystrophy type 2A

artículo científico publicado en 1996

Promoter polymorphisms and allelic imbalance in ABCB1 expression

artículo científico publicado en 2007

Proteomic signatures: amino acid and oligopeptide compositions differentiate among phyla

artículo científico publicado en 2004

Pseudometabolic expression and phenotypic variability of calpain deficiency in two siblings.

artículo científico publicado en 1998

Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

artículo científico publicado en 2018

Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity

artículo científico publicado en 2013

Recommendations for locus-specific databases and their curation

artículo científico publicado en 2008

Recovering frequencies of known haplotype blocks from single-nucleotide polymorphism allele frequencies

artículo científico publicado en 2004

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

artículo científico publicado en 2011

Relative stabilities of RNA/DNA hybrids: effect of RNA chain length in competitive hybrization.

artículo científico publicado en 1974

Restriction fragment length polymorphisms in genetic improvement: methodologies, mapping and costs

artículo científico publicado en 1983

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant

artículo científico publicado en 2013

SREBP-1c expression in Schwann cells is affected by diabetes and nutritional status.

artículo científico

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies)

article

Seventy-five genetic loci influencing the human red blood cell

artículo científico publicado en 2012

Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12

article

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

artículo científico publicado en 2013

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

scientific journal article

Sharing data between LSDBs and central repositories

artículo científico publicado en 2009

Six and Eya expression during human somitogenesis and MyoD gene family activation

artículo científico publicado en 2002

Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation.

artículo científico publicado en 2002

Statistical power of the North Carolina Experiment III design in determining the likelihood of success of pedigree breeding programs in selfing plants

article

Structure, genetic localization, and identification of the cardiac and skeletal muscle transcripts of the human integrin alpha7 gene (ITGA7)

artículo científico publicado en 1999

Studies on Calpain Expression during Differentiation of Rat Satellite Cells in Primary Cultures in the Presence of Heparin or a Mimic Compound

article

Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients

artículo científico publicado en 2008

Survey of human and rat microsatellites.

artículo científico publicado en 1992

Target sequencing, cell experiments, and a population study establish endothelial nitric oxide synthase (eNOS) gene as hypertension susceptibility gene

artículo científico publicado en 2013

Targeted Development of Microsatellite Markers from Inter-Alu Amplification of YAC Clones

article

Targeted Disruption of the Mouse Caspase 8 Gene Ablates Cell Death Induction by the TNF Receptors, Fas/Apo1, and DR3 and Is Lethal Prenatally ⬇️

artículo científico publicado el 1 de agosto de 1998

Tetranucleotide repeat polymorphism at the human N-MYC gene (MYCN)

article

The 105th ENMC sponsored workshop: pathogenesis in the non-sarcoglycan limb-girdle muscular dystrophies, Naarden, April 12–14, 2002

artículo científico publicado en 2003

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity

artículo científico publicado en 2014

The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation

artículo científico publicado en 2013

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

artículo científico publicado en 2015

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

artículo científico publicado en 2015

The association of DNA sequence variation at the MAOA genetic locus with quantitative behavioural traits in normal males

artículo científico publicado en 2006

The c-Jun N-terminal kinase JNK participates in cytokine- and isolation stress-induced rat pancreatic islet apoptosis

scientific article published on 09 June 2007

The gene for creatine kinase, mitochondrial 2 (sarcomeric; CKMT2), maps to chromosome 5q13.3

artículo científico publicado en 1993

The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27.

artículo científico

The limb-girdle muscular dystrophies--proposal for a new nomenclature.

artículo científico publicado en 1995

The phenotype of recurrent 10q22q23 deletions and duplications

artículo científico publicado en 2011

The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways

artículo científico publicado en 2008

Three dinucleotide markers on chromosome 21

artículo científico publicado en 1994

Toward a Unified Approach to Genetic Mapping of Eukaryotes Based on Sequence Tagged Microsatellite Sites

scientific article published on 01 October 1990

Trait-based analyses for the detection of linkage between marker loci and quantitative trait loci in crosses between inbred lines

artículo científico publicado en 1987

Transcription and processing of intervening sequences in yeast tRNA genes ⬇️

artículo científico publicado el 1 de junio de 1978

Transcription factor CTF1 acts as a chromatin domain boundary that shields human telomeric genes from silencing

artículo científico publicado en 2009

Transcription in vitro of the Eschenchia coli tRNATyr Gene Carried by the Transducing Bacteriophage 80PSU+3

scholarly article by Uribl Z. Littauer et al published 30 May 2008 in Novartis Foundation symposium

Trinucleotide repeat polymorphism at the human insulin-like growth factor I receptor gene (IGF1R) ⬇️

artículo científico publicado el 25 de marzo de 1992

Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations

artículo científico publicado en 2008

Typing without calling the allele: a strategy for inferring SNP haplotypes

USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses

artículo científico publicado en 2002

Use of a combined ex vivo/in vivo population approach for screening of human genes involved in the human immunodeficiency virus type 1 life cycle for variants influencing disease progression

artículo científico publicado en 2005

Variants in MTNR1B influence fasting glucose levels

artículo científico publicado en 2008

Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene

artículo científico publicado en 2013

[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis

artículo científico publicado en 2010

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