Prader-Willi syndrome

Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study
Merlin G Butler, Samantha N Hartin, Waheeda A Hossain, Ann M Manzardo, Virginia Kimonis, Elisabeth Dykens, June Anne Gold, Soo-Jeong Kim, Nicolette Weisensel, Roy Tamura, Jennifer L Miller, Daniel J Driscoll

Journal of Medical Genetics Mar 2019, 56 (3) 149-153; DOI: 10.1136/jmedgenet-2018-105301
Molecular characterisation of four cases of intrachromosomal triplication of chromosome 15q11-q14
Paola Ungaro, Susan L Christian, Judy A Fantes, Apiwat Mutirangura, Susan Black, James Reynolds, Sue Malcolm, William B Dobyns, David H Ledbetter

Journal of Medical Genetics Jan 2001, 38 (1) 26-34; DOI: 10.1136/jmg.38.1.26
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
Roel Hordijk, Henk Wierenga, Hans Scheffer, Beike Leegte, Robert M W Hofstra, Irene Stolte-Dijkstra

Journal of Medical Genetics Oct 1999, 36 (10) 782-785; DOI: 10.1136/jmg.36.10.782

Main menu