Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual Disability
- 31 December 2012
- journal article
- review article
- Published by Elsevier BV in Seminars in Pediatric Neurology
- Vol. 19 (4), 173-180
- https://doi.org/10.1016/j.spen.2012.09.004
Abstract
No abstract availableKeywords
This publication has 41 references indexed in Scilit:
- Further clinical and molecular delineation of the 15q24 microdeletion syndromeJournal of Medical Genetics, 2011
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesAmerican Journal of Human Genetics, 2010
- A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delayNature Genetics, 2010
- Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysisHuman Molecular Genetics, 2010
- Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcomeJournal of Medical Genetics, 2009
- Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disordersJournal of Medical Genetics, 2009
- Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesNature Genetics, 2008
- Clinical and molecular delineation of the 17q21.31 microdeletion syndromeJournal of Medical Genetics, 2008
- Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric PhenotypesNew England Journal of Medicine, 2008
- Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental RetardationAmerican Journal of Human Genetics, 2006