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Article

NIPBL gene responsible for Cornelia de Lange syndrome, a severe developmental disorder.

The Israel Medical Association journal : IMAJ - 1 Sept 2004

Ben-Asher Edna, Lancet Doron

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Source

Identifiers

PMID: 15373324

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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Research trail→

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NIPBL gene responsible for Cornelia de Lange syndrome, a severe developmental disorder.PMID 15373324Read ↗

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.Semantic proximity Read ↗

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

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

Mutational and genotype-phenotype correlation analyses in 28 Polish patients 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 ↗

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

A report of 2 cases of Cornelia de Lange syndrome (CdLS) and an analysis of clinical and genetic characteristics in a Chinese CdLS cohort.Semantic proximity Read ↗

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

[NIPBL gene mutations in two children with Cornelia de Lange syndrome].Semantic proximity Read ↗

An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL.Semantic proximity Read ↗

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

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