相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
Daniel G. MacArthur et al.
SCIENCE (2012)
De Novo Interstitial Deletion of 1q32.2-q32.3 Including the Entire IRF6 Gene in a Patient with Oral Cleft and Other Dysmorphic Features
I. Salahshourifar et al.
CYTOGENETIC AND GENOME RESEARCH (2011)
Performance of Mutation Pathogenicity Prediction Methods on Missense Variants
Janita Thusberg et al.
HUMAN MUTATION (2011)
Developmental factor IRF6 exhibits tumor suppressor activity in squamous cell carcinomas
Elisabetta Botti et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
Two Missense Mutations of the IRF6 Gene in Two Japanese Families With Popliteal Pterygium Syndrome
Noriko Matsuzawa et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
IRF6 Mutations in Mixed Isolated Familial Clefting
Katherine D. Rutledge et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan
S. Malik et al.
CLINICAL GENETICS (2010)
Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations
Sarah E. Flanagan et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2010)
Two Novel Mutations Affecting Splicing in the IRF6 Gene Associated With van der Woude Syndrome
Anna Paola Scioletti et al.
JOURNAL OF CRANIOFACIAL SURGERY (2010)
A map of human genome variation from population-scale sequencing
David Altshuler et al.
NATURE (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign
L. Desmyter et al.
MOLECULAR SYNDROMOLOGY (2010)
Three Novel Mutations of the IRF6 Gene With One Associated With an Unusual Feature in Van der Woude Syndrome
Patra Yeetong et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Novel Mutations in IRF6 in Nonsyndromic Cleft Lip With or Without Cleft Palate: When Should IRF6 Mutational Screening be Done?
Fernanda Sarquis Jehee et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Jalview Version 2-a multiple sequence alignment editor and analysis workbench
Andrew M. Waterhouse et al.
BIOINFORMATICS (2009)
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
Renata. L. L. Ferreira de Lima et al.
GENETICS IN MEDICINE (2009)
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6
Hayley J. Little et al.
HUMAN MOLECULAR GENETICS (2009)
ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
C. Sue Richards et al.
GENETICS IN MEDICINE (2008)
Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion
S Kayano et al.
JOURNAL OF HUMAN GENETICS (2003)
SIFT: predicting amino acid changes that affect protein function
PC Ng et al.
NUCLEIC ACIDS RESEARCH (2003)
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes
S Kondo et al.
NATURE GENETICS (2002)
分享论文
