Holoprosencephaly due to numeric chromosome abnormalities
- 26 January 2010
- journal article
- review article
- Published by Wiley in Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics
- Vol. 154C (1), 146-148
- https://doi.org/10.1002/ajmg.c.30232
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- Holoprosencephaly: An update on cytogenetic abnormalitiesSeminars in Medical Genetics, Part C of the American Journal of Medical Genetics, 2010
- Prenatal Diagnosis of Triploidy Associated with Holoprosencephaly: A Case Report and Review of the LiteratureAmerican Journal of Perinatology, 2009
- The full spectrum of holoprosencephaly-associated mutations within theZIC2gene in humans predicts loss-of-function as the predominant disease mechanismHuman Mutation, 2009
- Including prenatal diagnoses in birth defects monitoring: Experience of the Metropolitan Atlanta Congenital Defects ProgramBirth Defects Research Part A: Clinical and Molecular Teratology, 2008
- Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985–2004Pediatrics International, 2007
- Functional analysis of mutations in TGIF associated with holoprosencephalyMolecular Genetics and Metabolism, 2007
- 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of 14 patientsJournal of Medical Genetics, 2006
- Epidemiology of triploidy in a population‐based birth defects registry, Hawaii, 1986–1999American Journal of Medical Genetics Part A, 2003
- Mosaic trisomy 9 and lobar holoprosencephalyAmerican Journal of Medical Genetics, 2002
- Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephalyHuman Genetics, 2002