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Cornelia de Lange syndrome, cohesin, and beyond

Clinical genetics, 2009-10, Vol.76 (4), p.303-314

2009

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Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis

Clinical genetics, 2016-05, Vol.89 (5), p.557-563

2016

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Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2575-2586

2018

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Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

Human mutation, 2006-05, Vol.27 (5), p.436-443

2006

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Consequences of JAG1 mutations

Journal of medical genetics, 2003-12, Vol.40 (12), p.891-895

2003

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Features of alagille syndrome in 92 patients: Frequency and relation to prognosis

Hepatology (Baltimore, Md.), 1999-03, Vol.29 (3), p.822-829

1999

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Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Nature genetics, 1997-07, Vol.16 (3), p.235-242

1997

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Spectrum and Frequency of Jagged1 (JAG1) Mutations in Alagille Syndrome Patients and Their Families

American journal of human genetics, 1998-06, Vol.62 (6), p.1361-1369

1998

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Alagille syndrome

Journal of medical genetics, 1997-02, Vol.34 (2), p.152-157

1997

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NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations

American journal of human genetics, 2004-10, Vol.75 (4), p.610-623

2004

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KILLER/DR5 is a DNA damage-inducible p53-regulated death receptor gene

Nature genetics, 1997-10, Vol.17 (2), p.141-143

1997

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Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss

Clinical genetics, 2002-06, Vol.61 (6), p.459-464

2002

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Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Nature genetics, 1997-07, Vol.16 (3), p.243-251

1997

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Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate

Human mutation, 2013-02, Vol.34 (2), p.408-408

2013

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A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3

Human genetics, 2004-07, Vol.115 (2), p.139-148

2004

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Alagille syndrome is caused by mutations in human Jagged1 , which encodes a ligand for Notch1

Nature genetics, 1997-07, Vol.16 (3), p.243-251

1997

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NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation

Genetics in medicine, 2012-03, Vol.14 (3), p.313-322

2012

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Cornelia de Lange syndrome is caused by mutations in NIPBL , the human homolog of Drosophila melanogaster Nipped-B

Nature genetics, 2004-06, Vol.36 (6), p.631-635

2004

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Jagged1 mutations in Alagille syndrome

Human mutation, 2001, Vol.17 (1), p.18-33

2001

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Jagged1 mutations in patients ascertained with isolated congenital heart defects

American journal of medical genetics, 1999-05, Vol.84 (1), p.56-60

1999

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Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations

American journal of medical genetics. Part A, 2013-09, Vol.161A (9), p.2148-2157

2013

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Vascular anomalies in alagille syndrome: A significant cause of morbidity and mortality

Circulation (New York, N.Y.), 2004-03, Vol.109 (11), p.1354-1358

2004

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Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene

Human genetics, 2000-12, Vol.107 (6), p.577-581

2000

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Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome

Circulation (New York, N.Y.), 2002-11, Vol.106 (20), p.2567-2574

2002

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294 Disruption of Highly Conserved Noncoding Dna Elements in Congenital Heart Defects

Pediatric research, 2010-11, Vol.68 (Suppl 1), p.151-151

2010

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Cornelia de Lange syndrome, cohesin, and beyond

Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis

Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis

Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate

Consequences of JAG1 mutations

Features of alagille syndrome in 92 patients: Frequency and relation to prognosis

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

Spectrum and Frequency of Jagged1 (JAG1) Mutations in Alagille Syndrome Patients and Their Families

Alagille syndrome

NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations

KILLER/DR5 is a DNA damage-inducible p53-regulated death receptor gene

Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss

Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1

Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3

Alagille syndrome is caused by mutations in human Jagged1 , which encodes a ligand for Notch1

NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation

Cornelia de Lange syndrome is caused by mutations in NIPBL , the human homolog of Drosophila melanogaster Nipped-B

Jagged1 mutations in Alagille syndrome

Jagged1 mutations in patients ascertained with isolated congenital heart defects

Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: Further confirmation of pathogenicity and haplotype analysis in Asian populations

Vascular anomalies in alagille syndrome: A significant cause of morbidity and mortality

Chromosomal localization, genomic characterization, and mapping to the Noonan syndrome critical region of the human Deltex (DTX1) gene

Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome

294 Disruption of Highly Conserved Noncoding Dna Elements in Congenital Heart Defects

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