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Ring chromosome 15
- ... R, Grande G, Stabile M. Electroclinical evolution in ring chromosome 20 epilepsy syndrome: a case with severe phenotypic features followed for 25 years. Seizure. 2006 Sep;15(6):449-53. doi: 10.1016/j.seizure. ...
- ... Ochi M, Takeuchi Y, Yoshioka H, Sugimoto T. Ring chromosome 14 with ... of seizures. Am J Med Genet A. 2005 Oct 15;138A(3):218-24. doi: 10.1002/ajmg. ...
- ... and giant-cell fibroblastoma. Nat Genet. 1997 Jan;15(1):95-8. doi: 10.1038/ng0197-95. Citation on PubMed Sirvent N, Maire G, Pedeutour F. Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatment. Genes Chromosomes Cancer. ...
- ... of the deletion varies among affected individuals.A ring chromosome 22 can also cause 22q13.3 deletion syndrome. A ring chromosome is a circular structure that occurs when a ...
- ... their family. An unusual chromosomal abnormality called a ring chromosome can also cause Wolf-Hirschhorn syndrome. Ring chromosomes occur when a chromosome breaks in two places ...
- ... Killian syndrome caused by mosaicism for a supernumerary ring chromosome 12p. Am J Med Genet A. 2009 Mar; ...
- ... sideroblastic anemia in carrier females. Blood. 2000 Dec 15;96(13):4363-5. Citation on PubMed Cotter ... and cytoplasmic iron overload. EMBO J. 1999 Nov 15;18(22):6282-9. doi: 10.1093/emboj/ ...
- ... ESCO2 acetyltransferase activity. Hum Mol Genet. 2008 Jul 15;17(14):2172-80. doi: 10.1093/hmg/ ... 1091/mbc.e04-12-1063. Epub 2005 Jun 15. Citation on PubMed or Free article on PubMed ...
- ... spectrum. Am J Med Genet A. 2003 Jul 15;120A(2):222-8. doi: 10.1002/ajmg. ... on PubMed Fryburg JS, Lin KY, Golden WL. Chromosome 22q11.2 ... is due to mutations in a new RING finger gene on Xp22. Nat Genet. 1997 Nov; ...
- ... 3. Am J Med Genet A. 2005 Jan 15;132A(2):136-43. doi: 10.1002/ajmg. ...