Results 11 to 20 of about 2,170 (250)

Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome Analysis [PDF]

Molecular Genetics & Genomic Medicine
Background Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by congenital multiple anomalies, developmental delay, and distinctive facial features.
Hsiao‐Jung Kao, Elin H. F. Wang, Erh‐Chan Yeh, Hsiao‐Huei Chen, Feng‐Jen Hsieh, Tsang‐Ming Ko, Wuh‐Liang Hwu, Pui‐Yan Kwok, Ni‐Chung Lee   +8 more
doaj   +2 more sources

The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein–Taybi syndromes

Orphanet Journal of Rare Diseases, 2021
Background Cornelia de Lange (CdLS), Fragile X (FXS) and Rubinstein–Taybi syndromes (RTS) evidence unique profiles of autistic characteristics. To delineate these profiles further, the development of early social cognitive abilities in children with CdLS,
Katherine Ellis, Jo Moss, Chrysi Stefanidou, Chris Oliver, Ian Apperly   +4 more
doaj   +1 more source

BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome

Frontiers in Molecular Biosciences, 2021
Cornelia de Lange Syndrome (CdLS) is a human developmental syndrome with complex multisystem phenotypic features. It has been traditionally considered a cohesinopathy together with other phenotypically related diseases because of their association with ...
Pablo García-Gutiérrez, Mario García-Domínguez   +1 more
doaj   +1 more source

Formal Semantics of the CDL Language

CoRR, 2022
Technical Note, Department of Computer Science, University of Leipzig ...
Thorsten Berger, Steven She
openaire   +2 more sources

Lithium as a possible therapeutic strategy for Cornelia de Lange syndrome

Cell Death Discovery, 2021
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.
Paolo Grazioli, Chiara Parodi, Milena Mariani, Daniele Bottai, Elisabetta Di Fede, Aida Zulueta, Laura Avagliano, Anna Cereda, Romano Tenconi, Jolanta Wierzba, Raffaella Adami, Maria Iascone, Paola Francesca Ajmone, Thomas Vaccari, Cristina Gervasini, Angelo Selicorni, Valentina Massa   +16 more
doaj   +1 more source

Matrix metalloproteinases in a sea urchin ligament with adaptable mechanical properties. [PDF]

PLoS ONE, 2012
Mutable collagenous tissues (MCTs) of echinoderms show reversible changes in tensile properties (mutability) that are initiated and modulated by the nervous system via the activities of cells known as juxtaligamental cells.
Ana R Ribeiro, Alice Barbaglio, Maria J Oliveira, Cristina C Ribeiro, Iain C Wilkie, Maria D Candia Carnevali, Mário A Barbosa   +6 more
doaj   +1 more source

Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review

Frontiers in Pediatrics, 2022
BackgroundCornelia de Lange syndrome (CdLS) is a genetic disorder caused by variants in cohesion genes including NIPBL, SMC1A, SMC3, RAD21, and HDAC8.
Huakun Shangguan, Ruimin Chen
doaj   +1 more source

A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation

Diagnostics, 2021
Cornelia de Lange syndrome (CDLS) is caused by pathogenic variants in genes which are structural or regulatory components of the cohesin complex. The classical Cornelia de Lange (CDLS) phenotype is characterized by distinctive facial features, growth ...
Anca Maria Panaitescu, Simona Duta, Nicolae Gica, Radu Botezatu, Florina Nedelea, Gheorghe Peltecu, Alina Veduta   +6 more
doaj   +1 more source

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

Scientific Reports, 2021
Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of 11 unreported
Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Iñigo Marcos-Alcalde, María Arnedo, Ángela Ascaso, Ariadna Ayerza-Casas, Rebeca Antoñanzas-Pérez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gómez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié   +24 more
doaj   +1 more source

De novo NIPBL Mutations in Vietnamese Patients with Cornelia de Lange Syndrome

Medicina, 2020
Cornelia de Lange Syndrome (CdLS) is a rare congenital genetic disease causing abnormal unique facial phenotypes, several defects in organs and body parts, and mental disorder or intellectual disorder traits.
Duong Chi Thanh, Can Thi Bich Ngoc, Ngoc-Lan Nguyen, Chi Dung Vu, Nguyen Van Tung, Huy Hoang Nguyen   +5 more
doaj   +1 more source