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Lista de obras de Stylianos Antonarakis

10 years of Genomics, chromosome 21, and Down syndrome

artículo científico

A 48,XXY,+21 Down syndrome patient with additional paternal X and maternal 21

artículo científico publicado en 1991

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

artículo científico publicado en 2015

A DNA polymorphism with KpnI of the human liver-type phosphofructokinase (PFKL) gene

artículo científico publicado en 1988

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy

article

A PCR amplification method reveals instability of the dodecamer repeat in progressive myoclonus epilepsy (EPM1) and no correlation between the size of the repeat and age at onset.

artículo científico publicado en 1998

A Single-Nucleotide Substitution Mutator Phenotype Revealed by Exome Sequencing of Human Colon Adenomas

artículo científico publicado en 2012

A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22).

artículo científico publicado en 1996

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

artículo científico publicado en 1998

A de novo 12q13.11 microdeletion in a patient with severe mental retardation, cleft palate, and high myopia.

artículo científico publicado en 2010

A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.

artículo científico publicado en 1996

A genetic linkage map of 17 markers on human chromosome 21

artículo científico publicado en 1989

A genetic linkage map of 27 markers on human chromosome 21

artículo científico publicado en 1991

A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24.

artículo científico publicado en 2003

A high-resolution anatomical atlas of the transcriptome in the mouse embryo

artículo científico publicado en 2011

A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes

artículo científico publicado en 1999

A highly polymorphic locus cloned from the breakpoint of a chromosome 11p13 deletion associated with the WAGR syndrome

artículo científico publicado en 1989

A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region

artículo científico

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

artículo científico publicado en 2015

A method for the extraction of genomic DNA from human brain tissue fixed and stored in formalin for many years

artículo científico publicado en 1997

A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes

artículo científico publicado en 2010

A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q.

artículo científico publicado en 2004

A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination

artículo científico publicado en 1995

A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome

scientific article published on 26 September 2009

A new mutation in IVS-1 of the human beta globin gene causing beta thalassemia due to abnormal splicing

scientific article published on 01 July 1987

A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein

artículo científico publicado en 2005

A novel form of human polymorphism involving the hDHFR-psi 1 pseudogene identifies three RFLPs

artículo científico publicado en 1987

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly

artículo científico publicado en 2014

A novel zinc finger cDNA with a polymorphic pentanucleotide repeat (ATTTT)n maps on human chromosome 19p.

artículo científico publicado en 1993

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats

scientific article published on 23 February 2010

A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

article

A systematic enhancer screen using lentivector transgenesis identifies conserved and non-conserved functional elements at the Olig1 and Olig2 locus

artículo científico publicado en 2010

A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects.

artículo científico publicado en 2002

A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes

artículo científico publicado en 2010

A testis-specific gene, TPTE, encodes a putative transmembrane tyrosine phosphatase and maps to the pericentromeric region of human chromosomes 21 and 13, and to chromosomes 15, 22, and Y

artículo científico publicado en 1999

APECED: a monogenic autoimmune disease providing new clues to self-tolerance

artículo científico publicado en 1998

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication

artículo científico publicado en 2016

Abnormal RNA processing due to the exon mutation of βE-globin gene

artículo científico publicado en 1982

Abnormal cortical activation during response inhibition in 22q11.2 deletion syndrome

artículo científico publicado en 2007

Abnormal processing of beta Knossos RNA

scientific article published on 01 July 1984

Accuracy and limitations of pulsed field gel electrophoresis in sizing partial deletions of the factor VIII gene

artículo científico publicado en 1988

Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 Gright-arrowT

artículo científico publicado en 2001

Aire-deficient C57BL/6 mice mimicking the common human 13-base pair deletion mutation present with only a mild autoimmune phenotype

artículo científico publicado en 2009

Alpha thalassemia changes erythrocyte heterogeneity in sickle cell disease

artículo científico publicado en 1985

Alphoid DNA polymorphisms for chromosome 21 can be distinguished from those of chromosome 13 using probes homologous to both

artículo científico publicado en 1991

Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1.

artículo científico publicado en 1999

An MspI polymorphism at the MX1 locus in 21q22.3.

artículo científico publicado en 1991

An Xba I polymorphism 3' to the human erythropoietin (EPO) gene

artículo científico publicado en 1987

An alpha satellite DNA polymorphism specific for the centromeric region of chromosome 13.

artículo científico publicado en 1990

An autosomal dominant triphalangeal thumb: Polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36

An autosomal dominant triphalangeal thumb: polysyndactyly syndrome with variable expression in a large Indian family maps to 7q36.

artículo científico publicado en 1996

Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome

artículo científico publicado en 2007

Analysis of DNA haplotypes suggests a genetic predisposition to trisomy 21 associated with DNA sequences on chromosome 21

artículo científico publicado en 1985

Analysis of DNA polymorphism haplotypes linked to the cystic fibrosis locus in North American black and Caucasian families supports the existence of multiple mutations of the cystic fibrosis gene.

artículo científico publicado en 1989

Analysis of the Born in Bradford birth cohort

scientific article published on 01 January 2014

Analysis of the human Sonic Hedgehog coding and promoter regions in sacral agenesis, triphalangeal thumb, and mirror polydactyly

artículo científico publicado en 1998

Apolipoprotein A1 Baltimore (Arg10?Leu), a new ApoA1 variant

artículo científico publicado en 1990

Apolipoprotein B-100 Hopkins (arginine4019----tryptophan). A new apolipoprotein B-100 variant in a family with premature atherosclerosis and hyperapobetalipoproteinemia

artículo científico publicado en 1989

Arg16 homozygosity of the beta2-adrenergic receptor improves the outcome after beta2-agonist tocolysis for preterm labor

artículo científico publicado en 2005

Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation

artículo científico publicado en 2010

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome

artículo científico publicado en 2003

Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells

artículo científico publicado en 2008

Assignment of the human dynein heavy chain gene DNAH17L to human chromosome 17p12 by in situ hybridization and radiation hybrid mapping

artículo científico publicado en 1999

Association between Variants at BCL11A Erythroid-Specific Enhancer and Fetal Hemoglobin Levels among Sickle Cell Disease Patients in Cameroon: Implications for Future Therapeutic Interventions

artículo científico publicado en 2015

Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla.

artículo científico publicado en 1999

Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1.

artículo científico publicado en 2007

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

artículo científico publicado en 2016

Axonemal beta heavy chain dynein DNAH9: cDNA sequence, genomic structure, and investigation of its role in primary ciliary dyskinesia

artículo científico publicado en 2001

BACking up the promises

BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients

artículo científico publicado en 2012

BLUEPRINT to decode the epigenetic signature written in blood.

artículo científico publicado en 2012

Beta-thalassemia due to two novel nucleotide substitutions in consensus acceptor splice sequences of the beta-globin gene.

artículo científico publicado en 1989

BglII polymorphic site downstream to the human apolipoprotein AIV (apoAIV) gene

artículo científico publicado en 1986

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

artículo científico publicado en 2018

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

scientific article published on 09 May 2019

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

artículo científico publicado en 2019

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function

scientific article published on 25 December 2018

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

scientific article published on 01 March 2019

Biallelic variants in KIF14 cause intellectual disability with microcephaly

artículo científico publicado en 2018

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

artículo científico publicado en 2017

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature

scientific article published on 04 March 2020

Biased allelic expression in human primary fibroblast single cells

artículo científico publicado en 2014

Binding of PTEN to specific PDZ domains contributes to PTEN protein stability and phosphorylation by microtubule-associated serine/threonine kinases

artículo científico publicado en 2005

Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21;21) occur postzygotically

scientific article published on 01 February 1994

Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration

artículo científico publicado en 2015

CATCHing putative causative variants in consanguineous families

artículo científico publicado en 2015

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

artículo científico publicado en 2008

COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome

artículo científico publicado en 2005

Cardiomyogenesis is controlled by the miR-99a/let-7c cluster and epigenetic modifications

artículo científico publicado en 2013

Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci.

artículo científico publicado en 1998

Carrier screening for recessive disorders

scientific article published on 01 September 2019

Carrier testing strategy in haemophilia A.

artículo científico publicado en 1986

Cell-type, allelic, and genetic signatures in the human pancreatic beta cell transcriptome

artículo científico publicado en 2013

Characterization of a nondeleterious L1 insertion in an intron of the human factor VIII gene and further evidence of open reading frames in functional L1 elements

artículo científico publicado en 1989

Characterization of a novel gene, C21orf2, on human chromosome 21q22.3 and its exclusion as the APECED gene by mutation analysis.

artículo científico publicado en 1998

Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A.

artículo científico publicado en 1990

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms

artículo científico publicado en 2008

Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain

artículo científico publicado en 1995

Characterization of five partial deletions of the factor VIII gene

artículo científico publicado en 1987

Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3.

artículo científico publicado en 2008

Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA.

artículo científico publicado en 1990

Chromosomal localization and racial distribution of the polymorphic human dihydrofolate reductase pseudogene (DHFRP1).

artículo científico publicado en 1988

Chromosome 21 and down syndrome: from genomics to pathophysiology

artículo científico publicado en 2004

Chromosome 21 genetic linkage data set based on CEPH pedigrees ⬇️

artículo científico publicado el 1 de enero de 1992

Chromosome 21: a small land of fascinating disorders with unknown pathophysiology

artículo científico publicado en 2002

Chromosome 21: from sequence to applications

artículo científico publicado en 2001

Chromosome conformation capture uncovers potential genome-wide interactions between human conserved non-coding sequences

artículo científico publicado en 2011

Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency

scientific journal article

Cloning and linkage mapping of three polymorphic tetranucleotide (TAAA)n repeats on human chromosome 21.

artículo científico publicado en 1992

Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping

artículo científico publicado en 1996

Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome

artículo científico publicado en 1997

Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3

artículo científico publicado en 1997

Cloning of the cDNA for a human homolog of the rat PEP-19 gene and mapping to chromosome 21q22.2-q22.3.

artículo científico publicado en 1996

Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2

artículo científico publicado en 1995

Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region

artículo científico publicado en 1997

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

artículo científico publicado en 2000

Cognition and hippocampal plasticity in the mouse is altered by monosomy of a genomic region implicated in Down syndrome

artículo científico publicado en 2014

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

artículo científico publicado en 2009

Comparative gene finding in chicken indicates that we are closing in on the set of multi-exonic widely expressed human genes

artículo científico publicado en 2005

Comparison of deficiency alleles of the beta-globin and factor VIII:C genes: new lessons from a giant gene

artículo científico publicado en 1986

Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment

artículo científico publicado en 2004

Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes

artículo científico publicado en 2003

Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report.

artículo científico publicado en 2011

Conserved non-genic sequences - an unexpected feature of mammalian genomes

artículo científico publicado en 2005

Conserved noncoding sequences are selectively constrained and not mutation cold spots

article by Jared A Drake et al published 25 December 2005 in Nature Genetics

Construction of a 2.5-Mb integrated physical and gene map of distal 21q22.3.

artículo científico publicado en 1998

Construction of human chromosome 21-specific yeast artificial chromosomes

artículo científico publicado en 1989

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

artículo científico publicado en 2007

Correction: Genetic Structure of Europeans: A View from the North–East.

artículo científico publicado en 2010

Correction: Passive and active DNA methylation and the interplay with genetic variation in gene regulation

artículo científico publicado en 2013

Corrigendum: Domains of genome-wide gene expression dysregulation in Down’s syndrome

artículo científico publicado en 2015

D21S210: A highly polymorphic (GT)n marker closely linked to the ?-amyloid protein precursor (APP) gene

article

D21S215 is a (GT)n polymorphic marker close to centromeric alphoid sequences on chromosome 21.

artículo científico publicado en 1992

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy

artículo científico publicado en 2014

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome

artículo científico publicado en 2016

DNA Polymorphisms in the 3′ Untranslated Region of Genes on Human Chromosome 21

article

DNA deamination enables direct PCR amplification of the cystatin B (CSTB) gene-associated dodecamer repeat expansion in myoclonus epilepsy type Unverricht-Lundborg

artículo científico publicado en 2003

DNA methylation profiles of human active and inactive X chromosomes

artículo científico publicado en 2011

DNA polymorphic sites in the human ApoAI-CIII-AIV cluster: Taq I and Ava I

artículo científico publicado en 1986

DNA polymorphism and molecular pathology of the human globin gene clusters

artículo científico publicado en 1985

DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster

article

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins

artículo científico publicado en 2015

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

artículo científico publicado en 2006

DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome

artículo científico publicado en 2008

Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

artículo científico publicado en 2014

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy

artículo científico publicado en 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

artículo científico publicado en 2020

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.

artículo científico publicado en 2010

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

artículo científico publicado en 2020

Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing

artículo científico publicado en 2018

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression

artículo científico publicado en 2017

Detection of aneuploidies by paralogous sequence quantification

artículo científico publicado en 2004

Detection of genomic variation by selection of a 9 mb DNA region and high throughput sequencing

artículo científico publicado en 2009

Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP).

artículo científico publicado en 1992

Determination of Gene Dosage by a Quantitative Adaptation of the Polymerase Chain Reaction (gd-PCR): Rapid Detection of Deletions and Duplications of Gene Sequences

article

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

artículo científico publicado en 2014

Different mechanisms preclude mutant CLDN14 proteins from forming tight junctions in vitro

artículo científico publicado en 2005

Differential gene expression studies to explore the molecular pathophysiology of Down syndrome

article

Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors

artículo científico publicado en 2002

Dinucleotide repeat (GT)n markers on chromosome 21

artículo científico publicado en 1992

Dinucleotide repeat polymorphism within ERCC5 gene

artículo científico

Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening

artículo científico publicado en 2009

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

artículo científico publicado en 1997

Domains of genome-wide gene expression dysregulation in Down's syndrome.

artículo científico publicado en 2014

Down syndrome: from understanding the neurobiology to therapy

artículo científico publicado en 2010

Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia

artículo científico publicado en 1995

Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion.

artículo científico publicado en 2011

EGASP: the human ENCODE Genome Annotation Assessment Project

artículo científico publicado en 2006

Early history of mammals is elucidated with the ENCODE multiple species sequencing data

artículo científico publicado en 2007

Early-onset dementias: clinical, neuropathological and genetic characteristics

artículo científico publicado en 1996

Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis.

artículo científico publicado en 2006

Efficient targeted transcript discovery via array-based normalization of RACE libraries

artículo científico publicado en 2008

Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP

artículo científico publicado en 2001

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

artículo científico publicado en 2007

Evidence for involvement of a Robertsonian translocation 13 chromosome in formation of a ring chromosome 13

scientific article published on 01 December 1990

Evidence for multiple origins of the beta E-globin gene in Southeast Asia

artículo científico publicado en 1982

Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome

artículo científico publicado en 1987

Evidence for transcript networks composed of chimeric RNAs in human cells

artículo científico publicado en 2012

Evidence supporting a single origin of the beta(C)-globin gene in blacks

artículo científico publicado en 1985

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

artículo científico publicado en 2005

Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs).

artículo científico publicado en 2003

Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development

artículo científico publicado en 2008

Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease.

artículo científico publicado en 2018

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

artículo científico publicado en 2016

Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome.

artículo científico publicado en 2013

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

artículo científico publicado en 2011

Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes

artículo científico publicado en 2014

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia

scientific article published on 30 August 2014

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders

artículo científico publicado en 2015

Exon skipping associated with A-->G transition at +4 of the IVS33 splice donor site of the neurofibromatosis type 1 (NF1) gene

artículo científico publicado en 1994

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

Extensive cellular heterogeneity of X inactivation revealed by single-cell allele-specific expression in human fibroblasts

scientific article published on 03 December 2018

Extensive natural variation for cellular hydrogen peroxide release is genetically controlled

artículo científico publicado en 2012

Extrachromosomal driver mutations in glioblastoma and low-grade glioma

artículo científico publicado en 2014

Eye gaze during face processing in children and adolescents with 22q11.2 deletion syndrome.

artículo científico publicado en 2010

FOXL2-mutations in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES); challenges for genetic counseling in female patients

artículo científico publicado en 2003

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

artículo científico publicado en 1995

Familial epilepsy in Algeria: Clinical features and inheritance profiles

artículo científico publicado en 2015

Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].

artículo científico publicado en 1986

Familial isolated hypoparathyroidism: a molecular genetic analysis of 8 families with 23 affected persons.

artículo científico publicado en 1986

Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13

artículo científico publicado en 1997

Fortuitous detection of uniparental isodisomy of chromosome 6.

artículo científico publicado en 1997

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.

artículo científico publicado en 2006

Frequency of replication/transcription errors in (A)/(T) runs of human genes

artículo científico

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.

artículo científico publicado en 2014

From sequence to functional understanding: the difficult road ahead

artículo científico publicado en 2011

Functional genetic variation of human miRNAs and phenotypic consequences

artículo científico publicado en 2008

GENCODE: producing a reference annotation for ENCODE

artículo científico publicado en 2006

Galanin pathogenic mutations in temporal lobe epilepsy

artículo científico publicado en 2015

Gene age predicts the strength of purifying selection acting on gene expression variation in humans

artículo científico publicado en 2014

Gene defects in beta-thalassemia and their prenatal diagnosis

artículo científico publicado en 1990

Gene duplication: a drive for phenotypic diversity and cause of human disease

artículo científico publicado en 2007

Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome

artículo científico publicado en 2004

Gene expression variation and expression quantitative trait mapping of human chromosome 21 genes

article

Gene finding in the chicken genome

artículo científico publicado en 2005

Gene structure and chromosomal localization of the human P2X7 receptor

artículo científico publicado en 1998

Gene-centromere mapping and the study of non-disjunction in autosomal trisomies and ovarian teratomas

scientific article published on 01 January 1989

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells

artículo científico publicado en 2016

Genetic analysis workshop IV: the 11p data sets

scientific article published on 01 January 1986

Genetic and epigenetic regulation of human lincRNA gene expression

artículo científico publicado en 2013

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

artículo científico publicado en 2012

Genetic diseases: diagnosis by restriction endonuclease analysis

artículo científico publicado en 1982

Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes

artículo científico publicado en 2000

Genetic structure of Europeans: a view from the North-East

artículo científico publicado en 2009

Genetic variability of mu-opioid receptor in an obstetric population

artículo científico publicado en 2004

Genome linkage scanning: systematic or intelligent?

scientific article published on 01 November 1994

Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia

artículo científico publicado en 2003

Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder

artículo científico publicado en 2003

Genome-wide associations of gene expression variation in humans

artículo científico publicado en 2005

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

artículo científico publicado en 2012

Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1.

artículo científico publicado en 2006

Genomewide scan for nonsyndromic cleft lip and palate in multigenerational Indian families reveals significant evidence of linkage at 13q33.1-34

artículo científico publicado en 2006

Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma

artículo científico publicado en 2016

Genomic determinants in the phenotypic variability of Down syndrome

artículo científico

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

artículo científico publicado en 2008

Genomic, Proteomic and Phenotypic Heterogeneity in HeLa Cells across Laboratories: Implications for Reproducibility of Research Results

Genotype and phenotype analysis at the 22q11 schizophrenia susceptibility locus

artículo científico publicado el 1 de enero de 1996

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

artículo científico publicado en 2008

Germ-Line chromosomal localization of genes in chromosome 11p linkage: Parathyroid hormone, ?-globin, c-Ha-ras-1, and insulin

article

Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours.

artículo científico publicado en 2017

Guidelines for human gene nomenclature (1997). HUGO Nomenclature Committee

artículo científico publicado en 1997

Guidelines for investigating causality of sequence variants in human disease

artículo científico publicado en 2014

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

artículo científico publicado en 2016

HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation

artículo científico publicado en 2015

HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells

artículo científico publicado en 2015

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

artículo científico publicado en 1988

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

artículo científico publicado en 1985

High-throughput sequencing and rare genetic diseases.

artículo científico publicado en 2012

Highly polymorphic repeat marker within the ?-amyloid precursor protein gene

article

Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?

artículo científico publicado en 2011

Human chromosome 21 gene expression atlas in the mouse.

artículo científico publicado en 2002

Human chromosome 21: genome mapping and exploration, circa 1993.

artículo científico publicado en 1993

Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016

artículo científico publicado en 2016

Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes

artículo científico publicado en 2007

Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore

artículo científico publicado en 2008

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

artículo científico publicado en 2007

Identification and characterization of a novel cyclic nucleotide phosphodiesterase gene (PDE9A) that maps to 21q22.3: alternative splicing of mRNA transcripts, genomic structure and sequence

artículo científico publicado en 1998

Identification of Sequence Variants and Analysis of the Role of the Catechol-O-Methyl-Transferase Gene in Schizophrenia Susceptibility

article

Identification of a novel member of the CLIC family, CLIC6, mapping to 21q22.12.

artículo científico publicado en 2003

Identification of cis- and trans-regulatory variation modulating microRNA expression levels in human fibroblasts

artículo científico publicado en 2010

Identification of flanking markers for the familial amyotrophic lateral sclerosis gene ALS1 on chromosome 21

article

Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)

artículo científico publicado en 1997

Identifying protein-coding genes in genomic sequences

artículo científico publicado en 2009

Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3

scientific journal article

In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

artículo científico publicado en 2002

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

artículo científico publicado en 2008

Increased levels of a chromosome 21-encoded tumour invasion and metastasis factor (TIAM1) mRNA in bone marrow of Down syndrome children during the acute phase of AML(M7)

scientific article published on 01 September 1998

Initial sequencing and comparative analysis of the mouse genome

artículo científico publicado en 2002

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

scientific journal article

Islands of euchromatin-like sequence and expressed polymorphic sequences within the short arm of human chromosome 21

artículo científico publicado en 2007

Isolation and characterization of the mouse Aire gene

artículo científico publicado en 1999

Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3.

artículo científico publicado en 1997

Karyotypic Flexibility of the Complex Cancer Genome and the Role of Polyploidization in Maintenance of Structural Integrity of Cancer Chromosomes

artículo científico publicado en 2020

Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin

artículo científico publicado en 2004

LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes

artículo científico publicado en 2005

LRP5 gene polymorphisms and idiopathic osteoporosis in men.

artículo científico publicado en 2005

Lack of linkage or association between schizophrenia and the polymorphic trinucleotide repeat within the KCNN3 gene on chromosome 1q21

article

Landscape of transcription in human cells

artículo científico publicado en 2012

Language skills in children with velocardiofacial syndrome (deletion 22q11.2).

artículo científico publicado en 2002

Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: Report of three patients

Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients.

artículo científico publicado en 1997

Life-history traits drive the evolutionary rates of mammalian coding and noncoding genomic elements

artículo científico publicado en 2007

Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker

article

Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin, and insulin-like growth factor II.

artículo científico publicado en 1985

Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat

artículo científico publicado en 1991

Linkage mapping of highly informative DNA polymorphisms within the human interferon-α receptor gene on chromosome 21

article

Linkage mapping of the carbonyl reductase (CBR) gene on human chromosome 21 using a DNA polymorphism in the 3′ untranslated region

article

Linkage mapping of the cystathionine ?-synthase (CBS) gene on human chromosome 21 using a DNA polymorphism in the 3? untranslated region

article

Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat

artículo científico publicado en 1990

Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster

artículo científico publicado en 1982

Localisation of a human homologue of the Drosophila mnb and rat Dyrk genes to chromosome 21q22.2

artículo científico publicado en 1997

Localization of 102 exons to a 2.5 Mb region involved in Down syndrome

artículo científico publicado en 1995

Localization of a human homolog of the mouse Tiam-1 gene to chromosome 21q22.1.

artículo científico publicado en 1995

Localization of a human homolog of the mouse pericentrin gene (PCNT) to chromosome 21qter

artículo científico publicado en 1996

Localization of a novel human RNA-editing deaminase (hRED2 or ADARB2) to chromosome 10p15.

artículo científico publicado en 1997

Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity

artículo científico publicado en 1998

Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling

artículo científico publicado en 2014

MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets.

artículo científico publicado en 2017

MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother

artículo científico publicado en 2006

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

artículo científico publicado en 2013

Macrorestriction mapping of COL4A1 and COL4A2 collagen genes on human chromosome 13q34.

artículo científico publicado en 1988

Mapping of small RNAs in the human ENCODE regions

artículo científico publicado en 2008

Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21

artículo científico publicado en 1995

Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis.

artículo científico publicado en 2005

Mendelian disorders and multifactorial traits: the big divide or one for all?

article

Mendelian disorders deserve more attention

artículo científico publicado en 2006

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15

artículo científico publicado en 2010

Mild hemophilia A associated with a cryptic donor splice site mutation in intron 4 of the factor VIII gene

artículo científico publicado en 1988

Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene

artículo científico publicado en 1989

Mind the GAP, Rho, Rab and GDI.

artículo científico publicado en 1998

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

artículo científico publicado en 2011

Mitotic errors in somatic cells cause trisomy 21 in about 4.5% of cases and are not associated with advanced maternal age

artículo científico publicado en 1993

Modelling and rescuing neurodevelopmental defect of Down syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

artículo científico publicado en 2013

Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes

article

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

artículo científico

Molecular characterization of beta-thalassemia major and beta-thalassemia intermedia in China and Southeast Asia

artículo científico publicado en 1987

Molecular characterization of seven beta-thalassemia mutations in Asian Indians.

artículo científico publicado en 1984

Molecular etiology of factor VIII deficiency in hemophilia A.

artículo científico publicado en 1995

Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21.

artículo científico publicado en 1989

Molecular genetics of hemophilia A in man (factor VIII deficiency).

artículo científico publicado en 1987

Molecular heterogeneity of beta-thalassemia in mestizo Mexicans

artículo científico publicado en 1991

Molecular mechanism in the formation of a human ring chromosome 21.

artículo científico publicado en 1989

Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: A complex series of events

article

Mouse models for Down syndrome-associated developmental cognitive disabilities

artículo científico publicado en 2011

MspI polymorphic site in intron 22 of the factor VIII gene in the Japanese population

artículo científico publicado en 1990

MspI polymorphism in the 3' flanking region of the human factor VIII gene

artículo científico publicado en 1987

Multi-omic measurements of heterogeneity in HeLa cells across laboratories

artículo científico publicado en 2019

Multicenter linkage study of schizophrenia candidate regions on chromosomes 5q, 6q, 10p, and 13q: schizophrenia linkage collaborative group III

artículo científico publicado en 2000

Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.

artículo científico publicado en 2013

Multipoint Mapping Studies of Six Loci on Chromosome 11

artículo científico publicado en 1987

Multipoint mapping studies of the beta-globin, insulin, and c-Ha-ras-1 loci on 11p.

artículo científico publicado en 1986

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

artículo científico publicado en 2013

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

artículo científico publicado en 2002

Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients

artículo científico publicado en 2002

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance

artículo científico publicado en 2007

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

New class of gene-termini-associated human RNAs suggests a novel RNA copying mechanism

artículo científico publicado en 2010

Next generation diagnostics on cardiomyopathy

scholarly article by Jean-Louis Blouin published in January 2014

Nineteen additional unpredicted transcripts from human chromosome 21

artículo científico publicado en 2002

No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD).

artículo científico publicado en 2000

No evidence for an effect of COMT Val158Met genotype on executive function in patients with 22q11 deletion syndrome

artículo científico publicado en 2006

No evidence for linkage between schizophrenia and markers at chromosome 15q13-14.

artículo científico publicado en 1999

No uniparental disomy for chromosome 3 in Brachmann-De Lange syndrome

artículo científico publicado en 1994

Nonhomologous recombination in the human genome: deletions in the human factor VIII gene

artículo científico publicado en 1991

Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides

artículo científico publicado en 1988

Nonuniform recombination within the human beta-globin gene cluster: A reply to B. S. Weir and W. G. Hill.

artículo científico publicado en 1986

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother

artículo científico publicado en 2018

Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus

artículo científico publicado en 2012

Numerous potentially functional but non-genic conserved sequences on human chromosome 21

artículo científico publicado en 2002

OMIM passes the 1,000-disease-gene mark

article

On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups

artículo científico publicado en 1986

Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.

artículo científico publicado en 2015

Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both

artículo científico publicado en 1984

Passive and active DNA methylation and the interplay with genetic variation in gene regulation

artículo científico publicado en 2013

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

artículo científico publicado en 2016

Pathogenic variants in non-protein-coding sequences.

artículo científico publicado en 2013

Patterns of Meiotic Recombination on the Long Arm of Human Chromosome 21

artículo científico publicado en 2000

Pericentromeric instability and spontaneous emergence of human neoacrocentric and minute chromosomes in the alternative pathway of telomere lengthening.

artículo científico publicado en 2008

Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21.

artículo científico publicado en 2015

Peutz-Jeghers LKB1 mutants fail to activate GSK-3beta, preventing it from inhibiting Wnt signaling

artículo científico publicado en 2005

Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4.

artículo científico publicado en 1997

Phenotypic variability in siblings with Farber disease

article

Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation

artículo científico publicado en 1989

Physical mapping by PFGE localizes the COL3A1 and COL5A2 genes to a 35-kb region on human chromosome 2

article

Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites

artículo científico publicado en 2004

Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome

artículo científico publicado en 2012

Prenatal diagnosis using DNA polymorphisms. Report on 95 pregnancies at risk for sickle-cell disease or beta-thalassemia

scientific article published on 01 May 1983

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

artículo científico publicado en 2008

Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity

artículo científico publicado en 2000

Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres

artículo científico publicado en 2009

Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions

artículo científico publicado en 2007

Promoter polymorphisms and allelic imbalance in ABCB1 expression

artículo científico publicado en 2007

Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution

artículo científico publicado en 2007

Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives

artículo científico publicado en 1994

Purifying Selection in Mammalian Mitochondrial Protein-Coding Genes Is Highly Effective and Congruent with Evolution of Nuclear Genes

article

PvuII polymorphic site upstream to the human ApoCIII gene

artículo científico publicado en 1986

RFLP for the human lipoprotein lipase (LPL) gene: HindIII.

artículo científico publicado en 1987

RNA and protein expression of the murine autoimmune regulator gene (Aire) in normal, RelB-deficient and in NOD mouse

article

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

artículo científico publicado en 2011

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.

artículo científico publicado en 2014

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

artículo científico publicado en 1986

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

artículo científico publicado en 2008

Refined localization of autosomal recessive nonsyndromic deafness DFNB10 locus using 34 novel microsatellite markers, genomic structure, and exclusion of six known genes in the region

artículo científico publicado en 2000

Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing

artículo científico publicado en 2011

Regulation of fibrinogen production by microRNAs

artículo científico publicado en 2010

Report from the Maryland epidemiology schizophrenia linkage study: No evidence for linkage between schizophrenia and a number of candidate and other genomic regions using a complex dominant model

article

Report of the Fifth International Workshop on Human Chromosome 21 Mapping 1994

Report of the fourth international workshop on human chromosome 21

artículo científico publicado en 1993

Report on the ‘Expert Workshop on the Biology of Chromosome 21: towards gene-phenotype correlations in Down syndrome’, held June 11–14, 2004, Washington D.C

article

Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A.

artículo científico publicado en 1988

Restriction site polymorphism in the phosphoglycerate kinase gene on the X chromosome

article

Role of the pleckstrin homology domain in intersectin-L Dbl homology domain activation of Cdc42 and signaling

artículo científico publicado en 2003

Schizophrenia susceptibility and chromosome 6p24-22

artículo científico publicado en 1995

Schizophrenia susceptibility loci on chromosomes 13q32 and 8p21

artículo científico publicado en 1998

Schizophrenia: A genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes

article

Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2

artículo científico publicado en 2002

Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution

artículo científico publicado en 2004

Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation.

artículo científico publicado en 2007

Severe hemophilia A in a female by cryptic translocation: order and orientation of factor VIII within Xq28.

artículo científico

Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.

artículo científico publicado en 2014

Single cell transcriptome in aneuploidies reveals mechanisms of gene dosage imbalance

scientific article published on 03 October 2019

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection

artículo científico publicado en 2017

Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain

artículo científico publicado en 2018

Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A.

artículo científico publicado en 1993

Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region.

artículo científico publicado en 2006

Structured RNAs in the ENCODE selected regions of the human genome

artículo científico publicado en 2007

Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

artículo científico publicado en 2006

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

artículo científico publicado en 2008

Synaptojanin 1-linked phosphoinositide dyshomeostasis and cognitive deficits in mouse models of Down's syndrome

scientific journal article

Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells.

artículo científico publicado en 2017

TNPO3 protects HIV-1 replication from CPSF6-mediated capsid stabilization in the host cell cytoplasm.

artículo científico publicado en 2013

Tandem chimerism as a means to increase protein complexity in the human genome

artículo científico publicado en 2005

Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTB.

artículo científico publicado en 2012

Taurine newborn screening to prevent one form of retinal degeneration and cardiomyopathy

artículo científico publicado en 2020

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency

scientific article published on 01 March 2020

The CEPH Consortium Linkage Map of Human Chromosome 13

article

The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q.

artículo científico publicado en 1991

The Caenorhabditis elegans ortholog of C21orf80, a potential new protein O-fucosyltransferase, is required for normal development

artículo científico publicado en 2004

The DNA sequence of human chromosome 21

artículo científico publicado en 2000

The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes

artículo científico publicado el 1 de enero de 1996

The TPTE gene family: cellular expression, subcellular localization and alternative splicing

scientific journal article

The autoimmune regulator protein has transcriptional transactivating properties and interacts with the common coactivator CREB-binding protein

artículo científico publicado en 2000

The cerebellar transcriptome during postnatal development of the Ts1Cje mouse, a segmental trisomy model for Down syndrome.

artículo científico publicado en 2004

The challenge of Down syndrome

artículo científico publicado en 2006

The complete sequence of a human genome

artículo científico publicado en 2022

The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome.

artículo científico publicado en 2013

The effect of genetic variation on promoter usage and enhancer activity

artículo científico publicado en 2017

The effect of heterogeneous Transcription Start Sites (TSS) on the translatome: implications for the mammalian cellular phenotype

artículo científico publicado en 2015

The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia

scientific article published on 01 June 1983

The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion.

artículo científico publicado en 2003

The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region ⬇️

artículo científico publicado el 11 de julio de 1997

The gene for human U2 snRNP auxiliary factor small 35-kDa subunit (U2AF1) maps to the progressive myoclonus epilepsy (EPM1) critical region on chromosome 21q22.3

artículo científico publicado en 1996

The genome sequence of taurine cattle: a window to ruminant biology and evolution

artículo científico publicado en 2009

The genomic landscape of human cellular circadian variation points to a novel role for the signalosome.

artículo científico publicado en 2017

The haemophilia A mutation search test and resource site, home page of the factor VIII mutation database: HAMSTeRS.

artículo científico publicado en 1996

The human gene encoding insulin-like growth factor I is located on chromosome 12.

artículo científico publicado en 1985

The human sugar-phosphate/phosphate exchanger family SLC37

artículo científico publicado en 2004

The implications of alternative splicing in the ENCODE protein complement

artículo científico publicado en 2007

The molecular basis of hemophilia A (factor VIII deficiency) in man; progress report from the Johns Hopkins University Hemophilia Project.

artículo científico publicado en 1990

The molecular basis of hemophilia A in man.

artículo científico publicado en 1988

The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations

artículo científico publicado en 1999

The role of biobanking in rare diseases: European consensus expert group report

artículo científico

The same "TATA" box beta-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation

artículo científico publicado en 1986

The subcellular localization of the ChoRE-binding protein, encoded by the Williams-Beuren syndrome critical region gene 14, is regulated by 14-3-3

artículo científico publicado en 2004

The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells

scientific article published on 01 July 1995

The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro

artículo científico publicado en 2002

Third International Workshop on Human Chromosome 21.

artículo científico publicado en 1992

Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation

artículo científico publicado en 2009

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing

artículo científico publicado en 2015

Tmprss3, a transmembrane serine protease deficient in human DFNB8/10 deafness, is critical for cochlear hair cell survival at the onset of hearing

artículo científico publicado en 2011

Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter

artículo científico publicado en 2005

Transcriptional and post-transcriptional profile of human chromosome 21.

artículo científico publicado en 2009

Transcriptome and genome sequencing uncovers functional variation in humans

artículo científico publicado en 2013

Trapping and sequence analysis of 1138 putative exons from human chromosome 18

artículo científico publicado en 2003

Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes

artículo científico

Two PstI DNA polymorphisms adjacent to the human gene for the interferon-induced p78 protein (MX1 gene)

artículo científico publicado en 1989

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

artículo científico publicado en 2005

Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene

artículo científico publicado en 1996

Two patients with cystic fibrosis, nonsense mutations in each cystic fibrosis gene, and mild pulmonary disease

artículo científico publicado en 1990

Two-Dimensional Electrophoresis Southern Transfer Method for Detecting Human Genome Variability Using a LINE-1 Sequence Probe

scientific article published on 01 May 1995

Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21.

artículo científico publicado en 1993

Uniparental isodisomy due to duplication of chromosome 21 occuring in somatic cells monosomic for chromosome 21

artículo científico publicado en 1992

Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene

artículo científico publicado en 1990

Use of haplotype analysis in the beta-globin gene cluster to discover beta-thalassemia mutations

artículo científico publicado en 1983

Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls

artículo científico publicado en 2009

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

artículo científico publicado en 2018

Welcome to PathoGenetics

artículo científico publicado en 2008

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

artículo científico publicado en 2017

YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome

artículo científico publicado en 1996

YAC cloning of DNA embedded in an agarose matrix

artículo científico publicado en 1990

Yeast artificial chromosome vectors for efficient clone manipulation and mapping

artículo científico publicado en 1991

beta-Amyloid gene is not present in three copies in autopsy-validated Alzheimer's disease

artículo científico publicado en 1987

beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site

artículo científico publicado en 1984

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects

artículo científico publicado en 1984

c-Ha-ras-1 oncogene lies between beta-globin and insulin loci on human chromosome 11p

artículo científico publicado en 1984

β-Thalassemia in China: a Systematic Molecular Characterization of β-Thalassemia Mutations

article

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