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
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
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
Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion
Sign Up to like & getrecommendations! Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1073/pnas.2201029119
Abstract: Cornelia de Lange syndrome (CdLS) is a developmental multisystem disorder frequently associated with mutations in NIPBL. CdLS is thought to arise from developmental gene regulation defects, but how NIPBL mutations cause these is unknown. Here… read more here.
Keywords: mutations nipbl; lange syndrome; dna loop; extrusion ... See more keywords
Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of child neurology"
DOI: 10.1177/08830738221081244
Abstract: Cornelia de Lange syndrome is a rare developmental malformation syndrome characterized by small stature, limb anomalies, distinctive facial features, developmental delays, and behavioral issues. The diagnosis of Cornelia de Lange syndrome is made clinically or… read more here.
Keywords: smc1a variants; cornelia lange; lange syndrome;
Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome
Sign Up to like & getrecommendations! Published in 2018 at "BMC Pediatrics"
DOI: 10.1186/s12887-018-1004-3
Abstract: BackgroundCornelia de Lange syndrome (CdLS) is a rare congenital syndrome with no racial difference. The objective of this study is to report the clinical characteristics and genetic study of 20 CdLS cases from China.MethodsThis is… read more here.
Keywords: lange syndrome; study; genetic study; gene ... See more keywords