Origin of uniparental disomy 6: presentation of a new case and review on the literature
- 1 January 2001
- journal article
- case report
- Published by Elsevier in Annales de Genetique
- Vol. 44 (1) , 41-45
- https://doi.org/10.1016/s0003-3995(01)01035-8
Abstract
No abstract availableKeywords
This publication has 23 references indexed in Scilit:
- Partial Paternal Uniparental Disomy of Chromosome 6 in an Infant with Neonatal Diabetes, Macroglossia, and Craniofacial AbnormalitiesAmerican Journal of Human Genetics, 2000
- An imprinted locus associated with transient neonatal diabetes mellitusHuman Molecular Genetics, 2000
- Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6European Journal of Human Genetics, 2000
- Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15American Journal of Medical Genetics, 1999
- Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitusClinical Genetics, 1998
- Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.Journal of Medical Genetics, 1998
- Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.Journal of Medical Genetics, 1997
- Fortuitous detection of uniparental isodisomy of chromosome 6.Journal of Medical Genetics, 1997
- Uniparental maternal disomy 6 in a renal transplant patientHuman Immunology, 1996
- An imprinted gene(s) for diabetes?Nature Genetics, 1995