3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome
Authors:
- James CoxJCJames Cox
- John BarberJBJohn Barber
- Elisabet Dachs CabanasECElisabet Dachs Cabanas
- Amanda CollinsACAmanda Collins
- Dian DonnaiDDDian Donnai
- David R. FitzPatrickDFDavid R. FitzPatrick
- Eddy MaherEMEddy Maher
- Howard MartinHMHoward Martin
- Josep ParnauJPJosep Parnau
- Lesley PindarLPLesley Pindar
- Jacqueline RamsayJRJacqueline Ramsay
- 1 July 2005
- journal article
- Published by Elsevier in The American Journal of Human Genetics
- Vol. 77 (1) , 154-160
Abstract
No abstract availableKeywords
This publication has 20 references indexed in Scilit:
- Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)Journal of Medical Genetics, 2004
- Quaternary Structure, Protein Dynamics, and Synaptic Function of SAP97 Controlled by L27 Domain InteractionsNeuron, 2004
- Mutations in the DLG3 Gene Cause Nonsyndromic X-Linked Mental RetardationThe American Journal of Human Genetics, 2004
- Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypesJournal of Medical Genetics, 2004
- Implications of human genome architecture for rearrangement-based disorders: the genomic basis of diseaseHuman Molecular Genetics, 2004
- The use of telomere probes to investigate submicroscopic rearrangements associated with mental retardationCurrent Opinion in Genetics & Development, 2003
- Telomeres: a diagnosis at the end of the chromosomesJournal of Medical Genetics, 2003
- Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the SyndromeThe American Journal of Human Genetics, 2003
- A 1.5 million–base pair inversion polymorphism in families with Williams-Beuren syndromeNature Genetics, 2001
- Subtle chromosomal rearrangements in children with unexplained mental retardationThe Lancet, 1999