Uniparental disomy as the basis for an association of rare disorders
- PMID: 1785652
- DOI: 10.1002/ajmg.1320410233
Uniparental disomy as the basis for an association of rare disorders
Similar articles
-
Mosaic paternally derived inv dup(15) may partially rescue the Prader-Willi syndrome phenotype with uniparental disomy.Clin Genet. 2007 Oct;72(4):378-80. doi: 10.1111/j.1399-0004.2007.00860.x. Clin Genet. 2007. PMID: 17850637 No abstract available.
-
The cytogenetic controversy regarding the Prader-Willi syndrome.Birth Defects Orig Artic Ser. 1982;18(3B):301-4. Birth Defects Orig Artic Ser. 1982. PMID: 6958334 No abstract available.
-
[Molecular advances in "non-mendelian" genetics. Implications for pediatrics].An Esp Pediatr. 1993 Jun;38(6):479-87. An Esp Pediatr. 1993. PMID: 8368674 Spanish. No abstract available.
-
Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.Genet Couns. 1999;10(2):123-32. Genet Couns. 1999. PMID: 10422004 Review.
-
Contiguous gene syndromes: a component of recognizable syndromes.J Pediatr. 1986 Aug;109(2):231-41. doi: 10.1016/s0022-3476(86)80377-8. J Pediatr. 1986. PMID: 3016222 Review. No abstract available.
Cited by
-
Bloom syndrome and maternal uniparental disomy for chromosome 15.Am J Hum Genet. 1994 Jul;55(1):74-80. Am J Hum Genet. 1994. PMID: 7912890 Free PMC article.
-
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities.Am J Hum Genet. 2000 Dec;67(6):1586-91. doi: 10.1086/316897. Epub 2000 Oct 18. Am J Hum Genet. 2000. PMID: 11038325 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical