Private inherited microdeletion/microduplications: Implications in clinical practice
- 31 October 2008
- journal article
- Published by Elsevier in European Journal of Medical Genetics
- Vol. 51 (5) , 409-416
- https://doi.org/10.1016/j.ejmg.2008.06.003
Abstract
No abstract availableKeywords
This publication has 20 references indexed in Scilit:
- A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like featuresAmerican Journal of Medical Genetics Part A, 2008
- Delineation of the phenotype associated with 7q36.1q36.2 deletion: Long QT syndrome, renal hypoplasia and mental retardationAmerican Journal of Medical Genetics Part A, 2008
- Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and EpilepsyAmerican Journal of Human Genetics, 2007
- Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridizationHuman Mutation, 2007
- Clinical and molecular characterization of a patient with a 2q31.2‐32.3 deletion identified by array‐CGHAmerican Journal of Medical Genetics Part A, 2007
- Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius SyndromeAmerican Journal of Human Genetics, 2007
- Defining the Clinical Spectrum of Deletion 22q11.2The Journal of Pediatrics, 2005
- Maternal uniparental disomy chromosome 14: Case report and literature reviewPediatric Neurology, 2004
- Epigenetic detection of human chromosome 14 uniparental disomyHuman Mutation, 2003
- Maternal and Paternal Chromosomes 7 Show Differential Methylation of Many Genes in Lymphoblast DNAGenomics, 2001