Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability
about
Molecular 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, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndromeThe role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndromeMutation update on the CHD7 gene involved in CHARGE syndromeCHD7 mutations and CHARGE syndrome in semicircular canal dysplasia.Study of smell and reproductive organs in a mouse model for CHARGE syndrome.Mutations in the CHD7 gene: the experience of a commercial laboratoryFunctionally compromised CHD7 alleles in patients with isolated GnRH deficiency.Chromodomain proteins in development: lessons from CHARGE syndrome.Xenopus: An emerging model for studying congenital heart disease.Med14 cooperates with brg1 in the differentiation of skeletogenic neural crestChromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders.Outcomes of long-term audiological rehabilitation in charge syndrome.CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome.Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.A candidate gene for choanal atresia in alpaca.Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.Dysregulation of cotranscriptional alternative splicing underlies CHARGE syndrome.Reproductive endocrine phenotypes relating to CHD7 mutations in humans.A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.Is fetal cerebral MRI worthwhile in antenatally diagnosed isolated cleft lip with or without palate?Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants.Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH.Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.Family history and clefting as major criteria for CHARGE syndrome
P2860
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P2860
Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability
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
Familial CHARGE syndrome becau ...... and interfamilial variability
@ast
Familial CHARGE syndrome becau ...... and interfamilial variability
@en
Familial CHARGE syndrome becau ...... and interfamilial variability
@nl
type
label
Familial CHARGE syndrome becau ...... and interfamilial variability
@ast
Familial CHARGE syndrome becau ...... and interfamilial variability
@en
Familial CHARGE syndrome becau ...... and interfamilial variability
@nl
prefLabel
Familial CHARGE syndrome becau ...... and interfamilial variability
@ast
Familial CHARGE syndrome becau ...... and interfamilial variability
@en
Familial CHARGE syndrome becau ...... and interfamilial variability
@nl
P2093
P2860
P50
P3181
P1433
P1476
Familial CHARGE syndrome becau ...... and interfamilial variability
@en
P2093
Audollent S
Delahaye A
Delpierre I
Mansbach AL
Wiener-Vacher S
P2860
P304
P3181
P356
10.1111/J.1399-0004.2007.00821.X
P407
P50
P577
2007-08-01T00:00:00Z