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Article

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

Journal of medical genetics - 1 Dec 2004

Borck G, Redon R, Sanlaville D, Rio M, Prieur M, Lyonnet S, Vekemans M, Carter N P, Munnich A, Colleaux L, Cormier-Daire V

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Share to Genetic Heterogeneity
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Share to Chromosome Aberrations
Share to Chromosomes, Human, Pair 18

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 15591270
DOI: 10.1136/jmg.2004.026666
PMCID: PMC1735640

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.PMID 15591270Read ↗

Erratum to: Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndromeSemantic proximity Read ↗

NIPBL gene responsible for Cornelia de Lange syndrome, a severe developmental disorder.Semantic proximity Read ↗

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.Semantic proximity Read ↗

A novel mutation in NIPBL in a case of Cornelia de Lange syndrome confirmed with genetic testing following intrauterine fetal death. [Corrected].Semantic proximity Read ↗

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.Semantic proximity Read ↗

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.Semantic proximity Read ↗

[Analysis of NIPBL gene mutation in a patient with Cornelia de Lange syndrome].Semantic proximity Read ↗

[Analysis of genotypes and phenotypes of three children with Cornelia de Lange syndrome].Semantic proximity Read ↗

Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.Semantic proximity Read ↗

Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.Semantic proximity Read ↗

[Analysis of clinical manifestation and genetic mutations in two patients with Cornelia de Lange syndrome].Semantic proximity Read ↗

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.Semantic proximity Read ↗

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