Open AccessJournal Article
The genetics of cleft lip and cleft palate.
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This article is published in American Journal of Human Genetics.The article was published on 1970-05-01 and is currently open access. It has received 343 citations till now. The article focuses on the topics: Consanguinity & Mutation (genetic algorithm).read more
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Journal ArticleDOI
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans.
TL;DR: A Dutch family with tooth agenesis and various combinations of cleft palate only and cleft lip and clefts palate showed a nonsense mutation (Ser104stop) in exon 1 of MSX1 that is similar to that of the Msx1-mutant mouse.
Journal ArticleDOI
Genetics of cleft lip and palate: syndromic genes contribute to the incidence of non-syndromic clefts
Philip Stanier,Gudrun E. Moore +1 more
TL;DR: Several genes have now been shown to contribute a major effect on the etiology of CL/P, and these genes can be used to demonstrate a significant overlap between syndromic and non-syndromicCL/P.
Journal ArticleDOI
Development of the upper lip: morphogenetic and molecular mechanisms.
TL;DR: The current understanding of the basic morphogenetic processes and molecular mechanisms underlying upper lip development is summarized and the complex interactions of the various signaling pathways and challenges for understanding cleft lip pathogenesis are discussed.
Journal ArticleDOI
Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects.
TL;DR: If the human homologs of the mouse NTD mutants contribute to risk of common human NTDs, it seems likely to be in multifactorial combinations of hypomorphs and low-penetrance heterozygotes, as exemplified by mouse digenic mutants and the oligogenic SELH/Bc strain.
Journal ArticleDOI
A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24
Struan F.A. Grant,Struan F.A. Grant,Kai Wang,Haitao Zhang,Wendy Glaberson,Kiran Annaiah,Cecilia E. Kim,Jonathan P. Bradfield,Joseph T. Glessner,Kelly A. Thomas,Maria Garris,Edward C. Frackelton,F. George Otieno,Rosetta M. Chiavacci,Hyun-Duck Nah,Richard E. Kirschner,Hakon Hakonarson,Hakon Hakonarson +17 more
TL;DR: The results strongly suggest that a locus on 8q24 is involved in the pathogenesis of NSCL/P, and this previous report acts as a de novo replication for the independent observation outlined here.
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Book ChapterDOI
Genetics of Common Disorders
TL;DR: Genetic and part-genetic disorders may be subdivided into those determined by chromosome abnormality; those determinedBy mutant genes of large effect; Those determined by maternal-foetal incompatibility; and those determined or partly determined by extremes of “normal” variation caused by alleles at many gene loci.