Genotypic and phenotypic analysis of 396 individuals with mutations inSonic Hedgehog
نویسندگان
چکیده
منابع مشابه
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
BACKGROUND Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of non-chromosomal HPE. The severity spectrum is wide, ranging from incompatibility with extrauterine life to isolated midline facial differences. OBJECTIVE To...
متن کاملgenotypic and phenotypic analysis of fasciola isolates
background: to identify the fasciolid species by morphometric and molecular methods in zanjan, northwest of iran. methods : adult fasciola worms (n=584) were obtained from cattle and sheep in zanjan slaughterhouse in 2007. living flukes were washed, then worms' images were taken by 3ccd camera and finally apical zone of each worm was obtained. morphometric values such as body length, body widt...
متن کاملPhenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID
BACKGROUND SHANK proteins are crucial for the formation and plasticity of excitatory synapses. Although mutations in all three SHANK genes are associated with autism spectrum disorder (ASD), SHANK3 appears to be the major ASD gene with a prevalence of approximately 0.5% for SHANK3 mutations in ASD, with higher rates in individuals with ASD and intellectual disability (ID). Interestingly, the mo...
متن کاملTitle: Genotypic and phenotypic analysis of dairy Lactococcus lactis
1 Université de Toulouse; INSA, UPS, INP; LISBP, 135, avenue de Rangueil, 31077 Toulouse, France, 9 2 INRA, UMR792 Ingénierie des systèmes biologiques et des procédés, 31400 Toulouse, France 10 3 CNRS, UMR5504, 31400 Toulouse, France 11 4 Laboratoire de Microbiologie et Génétique Moléculaires, UMR5100, CNRS. 12 5 Université de Toulouse ; Université Paul Sabatier, Toulouse, France. 13 14 # Corre...
متن کاملPhenotypic and Genotypic Analysis of In Vitro Selected Artemisinin-Resistant
Progeny of Plasmodium falciparum 2 Matthew S. Tucker**, Tina Mutka, Kansas Sparks, Janus Patel, and Dennis E. Kyle* 3 Department of Global Health, College of Public Health, University of South Florida, 3720 4 Spectrum Blvd, Tampa, FL. 33612, USA 5
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2012
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2012-101008