Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.
Open Access
- 19 July 2017
- journal article
- research article
- Published by Springer Science and Business Media LLC in Italian Journal of Pediatrics
- Vol. 43 (1), 61
- https://doi.org/10.1186/s13052-017-0380-x
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- Focal cortical dysplasia, microcephaly and epilepsy in a boy with 1q21.1-q21.3 duplicationEuropean Journal of Medical Genetics, 2016
- Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: Rare association with pulmonary valve stenosisEuropean Journal of Medical Genetics, 2013
- DUF1220-Domain Copy Number Implicated in Human Brain-Size Pathology and EvolutionAmerican Journal of Human Genetics, 2012
- A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorderHuman Genetics, 2011
- BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1BMC Medical Genetics, 2009
- Genomic microarrays in mental retardation: A practical workflow for diagnostic applicationsHuman Mutation, 2009
- Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesNature Genetics, 2008
- A novel connexin50 mutation associated with congenital nuclear pulverulent cataractsJournal of Medical Genetics, 2007
- Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental RetardationAmerican Journal of Human Genetics, 2006
- Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal AbnormalitiesAmerican Journal of Human Genetics, 2003