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

Fetal phenotype of Cornelia de Lange syndrome with a molecular confirmation.

European journal of obstetrics, gynecology, and reproductive biology - 1 May 2023

Yu Qiu-Xia, Jing Xiang-Yi, Lin Xiao-Mei, Zhen Li, Li Dong-Zhi

Abstract excerpt

OBJECTIVE: To present the fetal features of Cornelia de Lange Syndrome (CdLS) with a molecular confirmation. STUDY DESIGN: This was a retrospective study of 13 cases with CdLS diagnosed by prenatal and postnatal genetic testing and physical examination. Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, chromosomal microarray...

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 Histone Deacetylases

Share to Mutation

Share to Phenotype

Share to Pregnancy

Share to Prenatal Diagnosis

Share to Repressor Proteins

Source

Identifiers

PMID: 36913886
DOI: 10.1016/j.ejogrb.2023.03.005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Fetal phenotype of Cornelia de Lange syndrome with a molecular confirmation.PMID 36913886Read ↗

Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally.Semantic proximity Read ↗

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

[Phenotypic and mutation analysis of a fetus with Cornelia de Lange syndrome Ⅰ].Semantic proximity Read ↗

Cornelia de Lange Spectrum.Semantic proximity Read ↗

[Genetic variant analysis of a neonate with 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 clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review.Semantic proximity Read ↗

Cornelia de Lange syndrome.Semantic proximity Read ↗

Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): A review of 53 CdLS pregnanciesSemantic proximity Read ↗

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

Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.Semantic proximity Read ↗

Clinical and molecular findings in Cornelia de Lange syndrome. Case series.Semantic proximity Read ↗

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