19q13.32 microdeletion syndrome: Three new cases
- 1 November 2014
- journal article
- case report
- Published by Elsevier in European Journal of Medical Genetics
- Vol. 57 (11-12) , 654-658
Abstract
No abstract availableKeywords
Funding Information
- NICHD (R01-HD026202)
- NINDS (R01-NS073854)
This publication has 13 references indexed in Scilit:
- The SLC8 gene family of sodium–calcium exchangers (NCX) – Structure, function, and regulation in health and diseaseMolecular Aspects of Medicine, 2013
- Regional Features of the Expression of Genes Involved in Neurogenesis and Apoptosis in the Brain of Adult RatsBulletin of Experimental Biology and Medicine, 2012
- Gene Expression Profile of Adult Human Olfactory Bulb and Embryonic Neural Stem Cell Suggests Distinct Signaling Pathways and Epigenetic ControlPLOS ONE, 2012
- Dhx34 and Nbas function in the NMD pathway and are required for embryonic development in zebrafishNucleic Acids Research, 2011
- Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader–Willi syndromeEuropean Journal of Human Genetics, 2010
- Mesodermal Wnt signaling organizes the neural plate via Meis3Development, 2010
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesThe American Journal of Human Genetics, 2010
- Array-CGH detection of a de novo 0.8 Mb deletion in 19q13.32 associated with mental retardation, cardiac malformation, cleft lip and palate, hearing loss and multiple dysmorphic featuresEuropean Journal of Medical Genetics, 2009
- Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint areaEuropean Journal of Human Genetics, 2008
- 2E4/Kaptin (KPTN) – a candidate gene for the hearing loss locus, DFNA4Annals of Human Genetics, 2000