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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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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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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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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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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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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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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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Consequences of JAG1 mutations

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

2003

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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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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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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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Intracranial Vascular Abnormalities in Patients with Alagille Syndrome

Journal of pediatric gastroenterology and nutrition, 2005-07, Vol.41 (1), p.99-107

2005

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Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

American journal of medical genetics. Part A, 2005-09, Vol.138A (1), p.27-31

2005

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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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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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Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome

American journal of medical genetics. Part A, 2005-04, Vol.134A (1), p.3-11

2005

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Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic

American journal of medical genetics. Part A, 2006-04, Vol.140A (8), p.827-836

2006

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Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

American journal of medical genetics, 2004-08, Vol.128A (4), p.340-351

2004

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Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements

American journal of medical genetics. Part A, 2005-09, Vol.137A (3), p.276-282

2005

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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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Reply to correspondence from Kosztolányi and Méhes "Supernumerary digital flexion creases"

American journal of medical genetics. Part A, 2003-08, Vol.121A (1), p.92-92

2003

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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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Cornelia de Lange syndrome, cohesin, and beyond

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

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

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

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

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

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

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

Consequences of JAG1 mutations

Mutations in the human Jagged1 gene are responsible for Alagille syndrome

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

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

Intracranial Vascular Abnormalities in Patients with Alagille Syndrome

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

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

Alagille syndrome

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

Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome

Outcomes of clinical examination and genetic testing of 500 individuals with hearing loss evaluated through a genetics of hearing loss clinic

Subtelomeric deletions of chromosome 9q: A novel microdeletion syndrome

Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p13.3) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements

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

Reply to correspondence from Kosztolányi and Méhes "Supernumerary digital flexion creases"

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

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