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American Journal of Human Genetics|March 2, 2010
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLSFeng Zhang, Lorraine Potocki, Jacinda B Sampson, et al.European Journal of Human Genetics : EJHG|November 19, 2009
Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndromeMarjolein H Willemsen, Bridget A Fernandez, Carlos A Bacino, et al.American Journal of Medical Genetics. Part A|January 31, 2025
De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the LiteratureMelina L Corriveau, Joshua C Korb, Sydney L Michener, et al.American Journal of Medical Genetics. Part A|April 9, 2022
A novel, de novo intronic variant in POGZ causes White-Sutton syndromeAshanta Merriweather, David R Murdock, Jill A Rosenfeld, et al.Human Molecular Genetics|July 23, 2003
Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomesElizabeth Spiteri, Melanie Babcock, Catherine D Kashork, et al.European Journal of Human Genetics : EJHG|April 27, 2005
Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndromeKeiko Wakui, Giuliana Gregato, Blake C Ballif, et al.American Journal of Medical Genetics. Part A|June 25, 2022
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndromeMonica Penon-Portmann, Mohammad K Eldomery, Lorraine Potocki, et al.American Journal of Medical Genetics. Part A|October 28, 2010
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndromeAmarilis Sanchez-Valle, Xueqing Wang, Lorraine Potocki, et al.American Journal of Human Genetics|November 7, 2015
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication SyndromeBo Yuan, Tamar Harel, Shen Gu, et al.American Journal of Medical Genetics. Part A|March 18, 2020
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatmentRebecca Markovitz, Rajarshi Ghosh, Molly E Kuo, et al.Pageof 9