Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
about
Monozygotic twins with variable expression of Van der Woude syndromePalatogenesis and cutaneous repair: A two-headed coinTooth agenesis and orofacial clefting: genetic brothers in arms?Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan AfricaIRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.Skeletal malocclusion: a developmental disorder with a life-long morbidity.Wound complications after cleft repair in children with Van der Woude syndrome.FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.A combined targeted mutation analysis of IRF6 gene would be useful in the first screening of oral facial clefts.Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case reportFetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: a subphenotype analysis using two population-based studies of orofacial clefts in Scandinavia.Toward an orofacial gene regulatory network.IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 familiesComparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databasesMCS9.7 enhancer activity is highly, but not completely, associated with expression of Irf6 and p63.Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm developmentGenetics of cleft lip and cleft palate.An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.The prevalence, penetrance, and expressivity of etiologic IRF6 variants in orofacial clefts patients from sub-Saharan AfricaA Japanese family with popliteal pterygium syndrome.Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice.Genetics and genomics etiology of nonsyndromic orofacial clefts.Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model.Novel lip pit phenotypes and mutations of IRF6 in Van der Woude syndrome patients from Pakistan.Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation.Challenges in non-invasive prenatal screening for sub-chromosomal copy number variations using cell-free DNA.Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome.Identification of a novel mutation in RIPK4 in a kindred with phenotypic features of Bartsocas-Papas and CHAND syndromes.Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.Genomic strategy identifies a missense mutation in WD-repeat domain 65 (WDR65) in an individual with Van der Woude syndrome.Confirmation that RIPK4 mutations cause not only Bartsocas-Papas syndrome but also CHAND syndrome.Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.Shared molecular networks in orofacial and neural tube development
P2860
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P2860
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
description
2009 nî lūn-bûn
@nan
2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Prevalence and nonrandom distr ...... h popliteal pterygium syndrome
@ast
Prevalence and nonrandom distr ...... h popliteal pterygium syndrome
@en
Prevalence and nonrandom distr ...... h popliteal pterygium syndrome
@nl
type
label
Prevalence and nonrandom distr ...... h popliteal pterygium syndrome
@ast
Prevalence and nonrandom distr ...... h popliteal pterygium syndrome
@en
Prevalence and nonrandom distr ...... h popliteal pterygium syndrome
@nl
prefLabel
Prevalence and nonrandom distr ...... h popliteal pterygium syndrome
@ast
Prevalence and nonrandom distr ...... h popliteal pterygium syndrome
@en
Prevalence and nonrandom distr ...... h popliteal pterygium syndrome
@nl
P2093
P2860
P50
P3181
P1433
P1476
Prevalence and nonrandom distr ...... h popliteal pterygium syndrome
@en
P2093
Antônio Richieri-Costa
Brian C Schutte
Bénédicte Bayet
Jeffrey C Murray
John Compton
Margaret E Cooper
Mary L Marazita
Michael J Dixon
Michella Ghassibe
P2860
P2888
P3181
P356
10.1097/GIM.0B013E318197A49A
P407
P577
2009-04-01T00:00:00Z
P6179
1017828676