Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions
about
Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE 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 syndromeRole of Chd7 in zebrafish: a 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.Unique phenotype in a patient with CHARGE syndrome.Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment.De novo STX16 deletions: an infrequent cause of pseudohypoparathyroidism type Ib that should be excluded in sporadic cases.Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated.Rapid Discovery of De Novo Deleterious Mutations in Cattle Enhances the Value of Livestock as Model Species.A candidate gene for choanal atresia in alpaca.A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.Next-generation sequencing of patients with congenital anosmia.Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome.
P2860
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P2860
Molecular analysis of the CHD7 gene in CHARGE syndrome: identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions
description
2007 nî lūn-bûn
@nan
2007 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հոտեմբերին 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
Molecular analysis of the CHD7 ...... bution of large CHD7 deletions
@ast
Molecular analysis of the CHD7 ...... bution of large CHD7 deletions
@en
Molecular analysis of the CHD7 ...... bution of large CHD7 deletions
@nl
type
label
Molecular analysis of the CHD7 ...... bution of large CHD7 deletions
@ast
Molecular analysis of the CHD7 ...... bution of large CHD7 deletions
@en
Molecular analysis of the CHD7 ...... bution of large CHD7 deletions
@nl
prefLabel
Molecular analysis of the CHD7 ...... bution of large CHD7 deletions
@ast
Molecular analysis of the CHD7 ...... bution of large CHD7 deletions
@en
Molecular analysis of the CHD7 ...... bution of large CHD7 deletions
@nl
P2093
P2860
P1433
P1476
Molecular analysis of the CHD7 ...... bution of large CHD7 deletions
@en
P2093
Birke Bausch
Carola Saloranta
Christian Wilhelm
Elke M Botzenhart
Jürgen Kohlhase
Kirsi Huoponen
Maila Penttinen
Minna Pöyhönen
Pia Vuorela
Sirpa Ala-Mello
P2860
P2888
P356
10.1097/GIM.0B013E318156E68E
P407
P577
2007-10-01T00:00:00Z
P5875
P6179
1036445992