Microduplication 22q11.2, an Emerging Syndrome: Clinical, Cytogenetic, and Molecular Analysis of Thirteen Patients
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- 1 November 2003
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 73 (5), 1027-1040
- https://doi.org/10.1086/378818
Abstract
No abstract availableKeywords
This publication has 28 references indexed in Scilit:
- Partial trisomy of chromosome 22 resulting from an interstitial duplication of 22q11.2 in a child with typical cat eye syndromeJournal of Medical Genetics, 2003
- Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-βGenetics in Medicine, 2003
- Genetic and clinical characterization of patients with an interstitial duplication 15q11‐q13, emphasizing behavioral phenotype and response to treatmentAmerican Journal of Medical Genetics Part A, 2003
- Disclosing the mechanisms of origin of de novo short‐arm duplications of chromosome 9American Journal of Medical Genetics Part A, 2003
- Molecular Definition of 22q11 Deletions in 151 Velo-Cardio-Facial Syndrome PatientsAmerican Journal of Human Genetics, 1997
- De novo tandem duplication of chromosome segment 22q11‐q12: Clinical, cytogenetic, and molecular characterizationAmerican Journal of Medical Genetics, 1995
- Partial trisomy 22 (q11.2-q13.1) as a result of duplication and pericentric inversion.Journal of Medical Genetics, 1995
- Interstitial duplication of proximal 22q: Phenotypic overlap with cat eye syndromeAmerican Journal of Medical Genetics, 1995
- Two autosomal dominant neuropathies result from reciprocal DNA duplication/deletion of a region on chromosome 17Human Molecular Genetics, 1994
- Inverted tandem (“mirror”) duplications in human chromosomes: Inv dup 8p, 4q, 22qAmerican Journal of Medical Genetics, 1977