Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases
about
The Increasing Importance of Gene-Based AnalysesNew insights into craniofacial malformationsFunctional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis.Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan AfricaSkinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations.Toward an orofacial gene regulatory network.IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 familiesConfirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio studyDissection of the complex genetic basis of craniofacial anomalies using haploid genetics and interspecies hybrids in Nasonia wasps.Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm developmentIntegrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.Genetics of cleft lip and cleft palate.An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.Disrupted IRF6-NME1/2 Complexes as a Cause of Cleft Lip/Palate.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 IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.Shared molecular networks in orofacial and neural tube development
P2860
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P2860
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases
description
2012 nî lūn-bûn
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2012年の論文
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2012年学术文章
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2012年学术文章
@zh-cn
2012年学术文章
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2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
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2012年學術文章
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name
Comparative analysis of IRF6 v ...... g public whole-exome databases
@en
Comparative analysis of IRF6 v ...... public whole-exome databases.
@nl
type
label
Comparative analysis of IRF6 v ...... g public whole-exome databases
@en
Comparative analysis of IRF6 v ...... public whole-exome databases.
@nl
prefLabel
Comparative analysis of IRF6 v ...... g public whole-exome databases
@en
Comparative analysis of IRF6 v ...... public whole-exome databases.
@nl
P2093
P2860
P356
P1433
P1476
Comparative analysis of IRF6 v ...... g public whole-exome databases
@en
P2093
Brian C Schutte
Jeffrey C Murray
Jennifer Standley
John Compton
Sherri Bale
P2860
P2888
P304
P356
10.1038/GIM.2012.141
P407
P577
2012-11-15T00:00:00Z