Cornelia de Lange syndrome: To diagnose or not to diagnose in utero?
Sign Up to like & getrecommendations! Published in 2017 at "Birth Defects Research"
DOI: 10.1002/bdr2.1045
Abstract: Cornelia de Lange syndrome (CdLS) is an inherited condition with a wide spectrum of phenotypic anomalies, consisting mainly of growth impairment, multi‐organ abnormalities, and neurocognitive delay. Clinical diagnostic criteria after birth are well defined, whereas… read more here.
Keywords: birth defects; lange syndrome; diagnose diagnose; syndrome diagnose ... See more keywords
Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts.
Sign Up to like & getrecommendations! Published in 2017 at "Birth defects research"
DOI: 10.1002/bdr2.1070
Abstract: BACKGROUND Cornelia de Lange syndrome (CdLS) is a rare genetic disorder affecting the neurodevelopment, gastrointestinal, musculoskeletal systems. CdLS is caused by mutations within NIPBL, SMC1A, SMC3, RAD21, and HDAC8 genes. These genes codify for the… read more here.
Keywords: cdls patients; lange syndrome; treatment; acid signaling ... See more keywords
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24438
Abstract: Cornelia de Lange syndrome (CdLS; MIM# 122470) is a rare developmental disorder. Pathogenic variants in 5 genes explain approximately 50% cases, leaving the other 50% unsolved. We performed whole genome sequencing (WGS) ± RNA sequencing (RNA‐seq) in… read more here.
Keywords: lange syndrome; rna sequencing; deep intronic; rna ... See more keywords
Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1471
Abstract: Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with variable multisystem involvement and genetic heterogeneity. We aimed to analyze the clinical and genetic characteristics of Chinese individuals with CdLS. read more here.
Keywords: characteristics chinese; lange syndrome; clinical genetic; genetic characteristics ... See more keywords
A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review
Sign Up to like & getrecommendations! Published in 2025 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.70058
Abstract: Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder. Although individuals with variants in the SMC1A gene are less commonly seen in CdLS, they exhibit a high incidence of epilepsy and atypical phenotypic variability. read more here.
Keywords: cornelia lange; novo frameshift; variant smc1a; lange syndrome ... See more keywords
Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis
Sign Up to like & getrecommendations! Published in 2025 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.70115
Abstract: Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by congenital multiple anomalies, developmental delay, and distinctive facial features. read more here.
Keywords: cornelia lange; identification novo; lange syndrome; novo chromosomal ... See more keywords
Prenatal diagnosis of Cornelia de Lange syndrome from 12 to 17 weeks' gestation
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DOI: 10.1002/pd.6164
Abstract: This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved. read more here.
Keywords: diagnosis cornelia; lange syndrome; syndrome weeks; diagnosis ... See more keywords
Cornelia de Lange syndrome: A rare case, presented with unilateral pes equinovarus.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of clinical orthopaedics and trauma"
DOI: 10.1016/j.jcot.2019.04.001
Abstract: Cornelia de Lange syndrome is a genetic disorder with multiple system abnormalities. It is especially characterized by typical facial appearance and hirsutism. Growth and mental retardation, gastrointestinal, cardiovascular, and orthopedic abnormalities are other important features… read more here.
Keywords: pes equinovarus; syndrome rare; case; lange syndrome ... See more keywords
Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Cell Death Discovery"
DOI: 10.1038/s41420-021-00414-2
Abstract: Cornelia de Lange Syndrome (CdLS) is a rare developmental disorder affecting a multitude of organs including the central nervous system, inducing a variable neurodevelopmental delay. CdLS malformations derive from the deregulation of developmental pathways, inclusive… read more here.
Keywords: lange syndrome; lithium; lithium possible; cdls ... See more keywords
Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature
Sign Up to like & getrecommendations! Published in 2024 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-023-01527-1
Abstract: Verheij syndrome [VRJS; OMIM 615583] is a rare autosomal dominant neurodevelopmental disorder characterized by distinct clinical features, including growth retardation, intellectual disability, cardiac, and renal anomalies. VRJS is caused by deletions of chromosome 8q24.3 or… read more here.
Keywords: cornelia lange; puf60 variant; lange syndrome; puf60 ... See more keywords
Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome
Sign Up to like & getrecommendations! Published in 2021 at "Nature Communications"
DOI: 10.1038/s41467-021-24808-z
Abstract: Cornelia de Lange syndrome (CdLS) is a rare disease affecting multiple organs and systems during development. Mutations in the cohesin loader, NIPBL/Scc2, were first described and are the most frequent in clinically diagnosed CdLS patients.… read more here.
Keywords: genome wide; lange syndrome; cohesin; nipbl scc2 ... See more keywords