Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study
about
X-linked disorders with cerebellar dysgenesisCandidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathyOfd1, a human disease gene, regulates the length and distal structure of centriolesOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinLiver and kidney disease in ciliopathiesUpdate on oral-facial-digital syndromes (OFDS)The buccohypophyseal canal is an ancestral vertebrate trait maintained by modulation in sonic hedgehog signalingRegional 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.CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging studyVariability of expression of oral-facial-digital syndrome type I in 15 Saudi girls: Why is there a high rate of median cleft lip in the phenotype?Using the avian mutant talpid2 as a disease model for understanding the oral-facial phenotypes of oral-facial-digital syndromeExpanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutationsDeep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23)Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 functionThe many faces of oral-facial-digital syndromeMutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesAn 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.Primary cilia integrate hedgehog and Wnt signaling during tooth development.Primary cilia in neurodevelopmental disorders.Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination.A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1.Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients.Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.The pathogenesis of the clinical features of oral-facial-digital syndrome type I.Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).Hepatorenal fibrocystic diseases in children.Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases.Outcome of kidney transplantation in type I oral-facial-digital syndrome.Novel STIL Compound Heterozygous Mutations Cause Severe Fetal Microcephaly and Centriolar Lengthening.Severe X-linked chondrodysplasia punctata in nine new female fetuses.Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification.Malformations among the X-linked intellectual disability syndromes.Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I).
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P2860
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study
description
2006 nî lūn-bûn
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2006 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Clinical, molecular, and genot ...... nd Belgian collaborative study
@ast
Clinical, molecular, and genot ...... nd Belgian collaborative study
@en
Clinical, molecular, and genot ...... nd Belgian collaborative study
@nl
type
label
Clinical, molecular, and genot ...... nd Belgian collaborative study
@ast
Clinical, molecular, and genot ...... nd Belgian collaborative study
@en
Clinical, molecular, and genot ...... nd Belgian collaborative study
@nl
prefLabel
Clinical, molecular, and genot ...... nd Belgian collaborative study
@ast
Clinical, molecular, and genot ...... nd Belgian collaborative study
@en
Clinical, molecular, and genot ...... nd Belgian collaborative study
@nl
P2093
P2860
P50
P3181
P356
P1476
Clinical, molecular, and genot ...... nd Belgian collaborative study
@en
P2093
A Goldenberg
A M Bouvier
C Thauvin-Robinet
J R Teyssier
P2860
P3181
P356
10.1136/JMG.2004.027672
P407
P577
2006-01-01T00:00:00Z