Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS
- 25 February 2010
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 86 (3) , 462-470
- https://doi.org/10.1016/j.ajhg.2010.02.001
Abstract
No abstract availableKeywords
This publication has 53 references indexed in Scilit:
- Prdm9 Controls Activation of Mammalian Recombination HotspotsScience, 2010
- Mechanisms of change in gene copy numberNature Reviews Genetics, 2009
- Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switchingHuman Molecular Genetics, 2009
- Mechanisms for human genomic rearrangementsPathoGenetics, 2008
- Germline rates of de novo meiotic deletions and duplications causing several genomic disordersNature Genetics, 2007
- Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomaliesHuman Genetics, 2007
- Characterization of Potocki-Lupski Syndrome (dup(17)(p11.2p11.2)) and Delineation of a Dosage-Sensitive Critical Interval That Can Convey an Autism PhenotypeAmerican Journal of Human Genetics, 2007
- Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2)Journal of Clinical Investigation, 2006
- A Chromosomal Rearrangement Hotspot Can Be Identified from Population Genetic Variation and Is Coincident with a Hotspot for Allelic RecombinationAmerican Journal of Human Genetics, 2006
- Human Genomic Deletions Mediated by Recombination between Alu ElementsAmerican Journal of Human Genetics, 2006