Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
about
Genotype-phenotype analysis of the branchio-oculo-facial syndromeVACTERL/VATER AssociationFunctional Insights into Chromatin Remodelling from Studies on CHARGE SyndromeThe role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndromeOtitis media in a new mouse model for CHARGE syndrome with a deletion in the Chd7 geneThe DNA-binding domain of the Chd1 chromatin-remodelling enzyme contains SANT and SLIDE domainsISWI and CHD chromatin remodelers bind promoters but act in gene bodiesMutation update on the CHD7 gene involved in CHARGE syndromeA critical role for the chromatin remodeller CHD7 in anterior mesoderm during cardiovascular developmentBrg1 governs distinct pathways to direct multiple aspects of mammalian neural crest cell developmentSox2 cooperates with Chd7 to regulate genes that are mutated in human syndromesEpigenetic regulation in the inner ear and its potential roles in development, protection, and regeneration.A novel CHD7 mutation in a Chinese patient with CHARGE syndromeReproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.Symmetrical Chorioretinal Colobomata with Craniovertebral Junction Anomalies in CHARGE Syndrome - A Case Report with Review of LiteratureMature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome.CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.Cleft Palate in a Mouse Model of SOX2 HaploinsufficiencyChromatin remodeling in development and disease: focus on CHD7.Accurately annotate compound effects of genetic variants using a context-sensitive framework.CHD7 mutational analysis and clinical considerations for auditory rehabilitation in deaf patients with CHARGE syndromeCHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesisThe chromatin remodeling protein CHD7, mutated in CHARGE syndrome, is necessary for proper craniofacial and tracheal developmentCHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.Systemic diagnostic testing in patients with apparently isolated uveal coloboma.Inappropriate p53 activation during development induces features of CHARGE syndrome.Mutations in the CHD7 gene: the experience of a commercial laboratoryEpigenetic Developmental Disorders: CHARGE syndrome, a case studyCHARGE syndrome: a review of the immunological aspects.The role of genetics in the establishment and maintenance of the epigenome.Epigenetic regulation in neural crest development.Non-homologous end joining repair mechanism-mediated deletion of CHD7 gene in a patient with typical CHARGE syndrome.Chromodomain proteins in development: lessons from CHARGE syndrome.Kismet positively regulates glutamate receptor localization and synaptic transmission at the Drosophila neuromuscular junction.Unique phenotype in a patient with CHARGE syndrome.Congenital anomalies of kidney and hand: a review.CHARGE syndrome due to deletion of region upstream of CHD7 gene START codon.Descriptive and risk factor analysis for choanal atresia: The National Birth Defects Prevention Study, 1997-2007The chromatin fingerprint of gene enhancer elements.Mouse Models for the Dissection of CHD7 Functions in Eye Development and the Molecular Basis for Ocular Defects in CHARGE Syndrome.
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P2860
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
description
2010 nî lūn-bûn
@nan
2010 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի մարտին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
@ast
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
@en
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
@nl
type
label
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
@ast
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
@en
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
@nl
prefLabel
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
@ast
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
@en
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
@nl
P2093
P2860
P3181
P356
P1476
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
@en
P2093
Donna M Martin
Peter C Scacheri
Wanda S Layman
P2860
P304
P3181
P356
10.1002/AJMG.A.33323
P407
P577
2010-03-01T00:00:00Z