Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
about
Anticipating the 1,000 dollar genomeCHARGE syndromeCHD8 interacts with CHD7, a protein which is mutated in CHARGE syndromeMutation of SALL2 causes recessive ocular coloboma in humans and miceCHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndromeMolecular and phenotypic aspects of CHD7 mutation in CHARGE syndromeDefects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndromeMutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndromeGDF6, a novel locus for a spectrum of ocular developmental anomaliesFunctional 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 syndromeOf mice and men: molecular genetics of congenital heart diseaseOtitis media in a new mouse model for CHARGE syndrome with a deletion in the Chd7 geneATP dependent chromatin remodeling enzymes in embryonic stem cellsMolecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletionsMutation update on the CHD7 gene involved in CHARGE syndromeNew recognized ophthalmic morphologic anomalies in CHARGE syndrome caused by the R2319C mutation in the CHD7 geneIncomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypesExpanding the phenotype and genotype of female GnRH deficiencyRole of chromodomain helicase DNA-binding protein 2 in DNA damage response signaling and tumorigenesisLanguage Impairments in ASD Resulting from a Failed Domestication of the Human BrainA novel CHD7 mutation in a Chinese patient with CHARGE syndromeReproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome.Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome.Role of Chd7 in zebrafish: a model for CHARGE syndrome.Kismet/CHD7 regulates axon morphology, memory and locomotion in a Drosophila model of CHARGE syndrome.CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expressionCloning and characterization of a novel alternatively spliced transcript of the human CHD7 putative helicase.Accurately annotate compound effects of genetic variants using a context-sensitive framework.CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.CHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.Inappropriate p53 activation during development induces features of CHARGE syndrome.A role for epigenetics in hearing: Establishment and maintenance of auditory specific gene expression patterns.Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathwaysMutations in the CHD7 gene: the experience of a commercial laboratoryEpigenetic Developmental Disorders: CHARGE syndrome, a case studyCHARGE syndrome: a review of the immunological aspects.Cadherin-mediated cell adhesion is critical for the closing of the mouse optic fissure.Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex.Chromodomain proteins in development: lessons from CHARGE syndrome.
P2860
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P2860
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
description
2005 nî lūn-bûn
@nan
2005 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Spectrum of CHD7 mutations in ...... genotype-phenotype correlation
@nl
Spectrum of CHD7 mutations in ...... enotype-phenotype correlation.
@ast
Spectrum of CHD7 mutations in ...... enotype-phenotype correlation.
@en
type
label
Spectrum of CHD7 mutations in ...... genotype-phenotype correlation
@nl
Spectrum of CHD7 mutations in ...... enotype-phenotype correlation.
@ast
Spectrum of CHD7 mutations in ...... enotype-phenotype correlation.
@en
prefLabel
Spectrum of CHD7 mutations in ...... genotype-phenotype correlation
@nl
Spectrum of CHD7 mutations in ...... enotype-phenotype correlation.
@ast
Spectrum of CHD7 mutations in ...... enotype-phenotype correlation.
@en
P2093
P2860
P50
P3181
P356
P1476
Spectrum of CHD7 mutations in ...... enotype-phenotype correlation.
@en
P2093
Angela E Lin
Arsalan M Safiullah
Carlos A Bacino
Christina Thaller
John M Graham
Karine G Harutyunyan
Lisa D White
Margaret Hefner
Nancy L Glass
Richard A Gibbs
P2860
P304
P3181
P356
10.1086/500273
P407
P577
2005-12-29T00:00:00Z