Associated Papers
Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition.
Rigotti L et al.
American Journal of Medical Genetics. Part A, 2025
Genome Instability and Senescence Are Markers of Cornelia de Lange Syndrome Cells.
Di Nardo M et al.
Cells, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.
Seymour H et al.
Molecular Genetics & Genomic Medicine, 2024
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Kaur M et al.
American Journal of Medical Genetics. Part A, 2023
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
Latorre-Pellicer A et al.
International Journal of Molecular Sciences, 2020
Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome.
Aoi H et al.
Journal of Human Genetics, 2019
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.
Yuan B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
NIPBL+/- haploinsufficiency reveals a constellation of transcriptome disruptions in the pluripotent and cardiac states.
Mills JA et al.
Scientific Reports, 2018
Mutations driving CLL and their evolution in progression and relapse.
Landau DA et al.
Nature, 2015
Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF.
Nolen LD et al.
Human Molecular Genetics, 2013
High rate of mosaicism in individuals with Cornelia de Lange syndrome.
Huisman SA et al.
Journal of Medical Genetics, 2013
Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome.
Oliveira J et al.
Human Mutation, 2010
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
Pié J et al.
American Journal of Medical Genetics. Part A, 2010
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation.
Selicorni A et al.
Clinical Genetics, 2007
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.
Bhuiyan ZA et al.
Journal of Medical Genetics, 2006