Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
about
The Cohesin loading factor NIPBL recruits histone deacetylases to mediate local chromatin modificationsIsolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interactionMutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndromeMechanisms of cohesin-mediated gene regulation and lessons learned from cohesinopathiesCongenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysisGenomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de LangeDe novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.Functional characterization of NIPBL physiological splice variants and eight splicing mutations in patients with Cornelia de Lange syndromeOverall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controlsGenetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome.Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients.Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.Mutation analysis in Chinese patients with Cornelia de Lange syndrome.Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.Cohesin and human disease.On the molecular etiology of Cornelia de Lange syndrome.Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.Cohesin: a critical chromatin organizer in mammalian gene regulationSpecial cases in Cornelia de Lange syndrome: The Spanish experience.A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series.Sleep disorders in Cornelia de Lange syndrome.Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis.The effect of Nipped-B-like (Nipbl) haploinsufficiency on genome-wide cohesin binding and target gene expression: modeling Cornelia de Lange syndrome.A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome.Neuroimaging features of Cornelia de Lange syndrome.CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies.Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element.Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.
P2860
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P2860
Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation
description
2007 nî lūn-bûn
@nan
2007 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Clinical score of 62 Italian p ...... nce and type of NIPBL mutation
@ast
Clinical score of 62 Italian p ...... nce and type of NIPBL mutation
@en
Clinical score of 62 Italian p ...... nce and type of NIPBL mutation
@nl
type
label
Clinical score of 62 Italian p ...... nce and type of NIPBL mutation
@ast
Clinical score of 62 Italian p ...... nce and type of NIPBL mutation
@en
Clinical score of 62 Italian p ...... nce and type of NIPBL mutation
@nl
prefLabel
Clinical score of 62 Italian p ...... nce and type of NIPBL mutation
@ast
Clinical score of 62 Italian p ...... nce and type of NIPBL mutation
@en
Clinical score of 62 Italian p ...... nce and type of NIPBL mutation
@nl
P2093
P2860
P50
P3181
P1433
P1476
Clinical score of 62 Italian p ...... nce and type of NIPBL mutation
@en
P2093
A Selicorni
C Sforzini
E Tarantino
F Cavalleri
M Masciadri
M T Divizia
P2860
P304
P3181
P356
10.1111/J.1399-0004.2007.00832.X
P407
P577
2007-08-01T00:00:00Z