Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

American journal of medical genetics. Part A - 15 Jul 2006

Yan Jiong, Saifi Gulam Mustafa, Wierzba Tomasz H, Withers Marjorie, Bien-Willner Gabriel A, Limon Janusz, Stankiewicz Paweł, Lupski James R, Wierzba Jolanta

Abstract excerpt

Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by prenatal and postnatal growth retardation, developmental delay, distinctive facial dysmorphism, limb malformations, and multiple organ defects. Mutations in the NIPBL gene have been discovered recently as a major etiology for this syndrome, and were detected in 27-56% of patients. Two groups have found significant...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Cycle Proteins
Share to De Lange Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Pedigree

Share to Poland

Share to Proteins

Share to Sequence Deletion

Source

Identifiers

PMID: 16770807
DOI: 10.1002/ajmg.a.31305

Genes

NIPBL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.PMID 16770807Read ↗

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

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.Semantic proximity Read ↗

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

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

Clinical and molecular analysis in a cohort of Chinese 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 ↗

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

Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.Semantic proximity Read ↗

Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.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 ↗

Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5' untranslated region of the NIPBL Gene.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.