The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.
about
Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellitesIdentification of the gene for oral-facial-digital type I syndromeClinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative studyRegional selection acting on the OFD1 gene familyConvergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene.Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability.Genetic components of perinatal morbidity and mortality.Normal and abnormal development of the urogenital tract.Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.Multiple causes of human kidney malformationsOral and craniofacial clinical signs associated to genetic conditions in human identification part I: a review.Short-term urinary flow impairment deregulates PAX2 and PCNA expression and cell survival in fetal sheep kidneysCystic kidney diseases: all roads lead to the cilium.The many faces of oral-facial-digital syndromeAn Atypical Presentation of a Male with Oral-Facial-Digital Syndrome Type 1 Related Ciliopathy.A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.From bone abnormalities to mineral metabolism dysregulation in autosomal dominant polycystic kidney disease.Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.A mosaic pattern of alopecia in the oral-facial-digital syndrome type I (Papillon-Léage and psaume syndrome).Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome.Variations in expression of oral-facial-digital syndrome (type I): report of two cases.Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination.The promise of human induced pluripotent stem cells in dental research.Outcome of kidney transplantation in type I oral-facial-digital syndrome.Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).The Bardet–Biedl and orofacial digital type 1 ciliopathies
P2860
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P2860
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3.
description
1997 nî lūn-bûn
@nan
1997 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
The oral-facial-digital syndro ...... ations, maps to Xp22.2-Xp22.3.
@ast
The oral-facial-digital syndro ...... ations, maps to Xp22.2-Xp22.3.
@en
The oral-facial-digital syndro ...... ations, maps to Xp22.2-Xp22.3.
@nl
type
label
The oral-facial-digital syndro ...... ations, maps to Xp22.2-Xp22.3.
@ast
The oral-facial-digital syndro ...... ations, maps to Xp22.2-Xp22.3.
@en
The oral-facial-digital syndro ...... ations, maps to Xp22.2-Xp22.3.
@nl
prefLabel
The oral-facial-digital syndro ...... ations, maps to Xp22.2-Xp22.3.
@ast
The oral-facial-digital syndro ...... ations, maps to Xp22.2-Xp22.3.
@en
The oral-facial-digital syndro ...... ations, maps to Xp22.2-Xp22.3.
@nl
P2093
P356
P1476
The oral-facial-digital syndro ...... ations, maps to Xp22.2-Xp22.3.
@en
P2093
P304
P356
10.1093/HMG/6.7.1163
P577
1997-07-01T00:00:00Z