about
A genome-wide association study identifies five loci influencing facial morphology in EuropeansGenetics and genomics in Thailand: challenges and opportunitiesGenome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts.PVRL1 as a candidate gene for nonsyndromic cleft lip with or without cleft palate: no evidence for the involvement of common or rare variants in southern Han Chinese patients.Heritability of craniofacial structures in normal subjects and patients with sleep apnea.Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene.Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGHIdentification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1.Further evidence suggesting a role for variation in ARHGAP29 variants in nonsyndromic cleft lip/palate.Genetics of nonsyndromic orofacial cleftsGene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndromeA new mutation in TP63 is associated with age-related pathology.The evolution of human genetic studies of cleft lip and cleft palate.Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association resultsCurrent concepts in genetics of nonsyndromic cleftsGenomic approaches for studying craniofacial disorders.A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome.Small players with a big role: MicroRNAs in pathophysiology of cleft lip and palate.Genetics and management of the patient with orofacial cleft.Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate.FOXE1 mutations in Thai patients with oral clefts.Expanding the phenotypic spectrum of acro-cardio-facial syndrome (ACFS): Exclusion of P63 mutation.No evidence of HAND2 involvement in nonsyndromic cleft lip with or without cleft palateMutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palatePhenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh-hant
name
A mutation of the p63 gene in non-syndromic cleft lip.
@en
A mutation of the p63 gene in non-syndromic cleft lip.
@nl
type
label
A mutation of the p63 gene in non-syndromic cleft lip.
@en
A mutation of the p63 gene in non-syndromic cleft lip.
@nl
prefLabel
A mutation of the p63 gene in non-syndromic cleft lip.
@en
A mutation of the p63 gene in non-syndromic cleft lip.
@nl
P2093
P2860
P356
P1476
A mutation of the p63 gene in non-syndromic cleft lip.
@en
P2093
P Leoyklang
V Shotelersuk
P2860
P356
10.1136/JMG.2005.036442
P407
P577
2006-06-01T00:00:00Z