نتایج جستجو برای: isochromosome 18p

تعداد نتایج: 551  

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1993
E D Carstea M H Polymeropoulos C C Parker S D Detera-Wadleigh R R O'Neill M C Patterson E Goldin H Xiao R E Straub M T Vanier

We analyzed the involvement of chromosome 18 in Niemann-Pick disease type C (NPC), an autosomal recessive cholesterol-processing disorder. Within affected offspring, the chromosome 18 parental contributions were identified by using allele-specific microsatellite markers. Significant linkage of NPC to an 18p genomic marker, D18S40, was indicated by a two-point lod score of 3.84. Analysis of meio...

Journal: :Diabetes 2003
Yurii S Aulchenko Norbert Vaessen Peter Heutink Jan Pullen Pieter J L M Snijders Albert Hofman Lodewijk A Sandkuijl Jeanine J Houwing-Duistermaat Mark Edwards Simon Bennett Ben A Oostra Cornelia M van Duijn

Multiple genes, interacting with the environment, contribute to the susceptibility to type 2 diabetes. We performed a genome-wide search to localize type 2 diabetes susceptibility genes in a recently genetically isolated population in the Netherlands. We identified 79 nuclear families with type 2 diabetes who were related within 13 generations and performed a 770-marker genome-wide scan search ...

Journal: :International Medical Case Reports Journal 2017

Journal: :The Application of Clinical Genetics 2018

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