Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
about
Epigenetic regulation of human embryonic stem cellsCHARGE syndromeSNP genotyping to screen for a common deletion in CHARGE syndromeGenetics of isolated hypogonadotropic hypogonadism: role of GnRH receptor and other genesHistone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathwayDisruptive CHD8 mutations define a subtype of autism early in developmentCHD6 is a DNA-dependent ATPase and localizes at nuclear sites of mRNA synthesisCHD8 interacts with CHD7, a protein which is mutated in CHARGE syndromeCHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genesCHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 geneSpectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndromeVACTERL/VATER AssociationDe novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndromeSpectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndromeHuman GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neuronsCHD7 cooperates with PBAF to control multipotent neural crest formationMolecular and phenotypic aspects of CHD7 mutation in CHARGE syndromeDECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl ResourcesClinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1Defects 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 syndromeOesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiologyTFAP2A mutations result in branchio-oculo-facial syndromeMutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndromeGDF6, a novel locus for a spectrum of ocular developmental anomaliesApplication of array-based comparative genomic hybridization to clinical diagnosticsHaploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)Functional Insights into Chromatin Remodelling from Studies on CHARGE SyndromeChromodomain helicase DNA-binding proteins in stem cells and human developmental diseasesThe role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndromeClinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsCongenital heart disease: emerging themes linking genetics and developmentGenetics of congenital heart disease: the glass half emptyThe genetic basis of female reproductive disorders: etiology and clinical testingMendelian disorders of the epigenetic machinery: tipping the balance of chromatin statesOf mice and men: molecular genetics of congenital heart diseaseOtitis media in a new mouse model for CHARGE syndrome with a deletion in the Chd7 geneThe National Birth Defects Prevention Study: A review of the methodsMolecular implications of evolutionary differences in CHD double chromodomains.
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P2860
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
description
2004 nî lūn-bûn
@nan
2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
@ast
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
@en
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
@en-gb
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
@nl
type
label
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
@ast
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
@en
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
@en-gb
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
@nl
prefLabel
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
@ast
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
@en
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
@en-gb
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
@nl
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P2860
P50
P3181
P356
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P1476
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
@en
P2093
Ben C J Hamel
Bert B A de Vries
Conny M A van Ravenswaaij
Eric F P M Schoenmakers
Erik H L P G Huys
Han G Brunner
Irene M Janssen
Jane A Hurst
Pieter J de Jong
Ronald Admiraal
P2860
P2888
P3181
P356
10.1038/NG1407
P407
P577
2004-09-01T00:00:00Z
P6179
1046897197