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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1990 | 1 |
1998 | 1 |
2002 | 1 |
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2005 | 1 |
2011 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 1355
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Page 1
Infantile cardioencephalopathy due to a COX15 gene defect: report and review.
Am J Med Genet A. 2011 Apr;155A(4):840-4. doi: 10.1002/ajmg.a.33881. Epub 2011 Mar 15.
Am J Med Genet A. 2011.
PMID: 21412973
Review.
Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency.
Bugiani M, Tiranti V, Farina L, Uziel G, Zeviani M.
Bugiani M, et al.
J Med Genet. 2005 May;42(5):e28. doi: 10.1136/jmg.2004.029926.
J Med Genet. 2005.
PMID: 15863660
Free PMC article.
Item in Clipboard
Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome.
Oquendo CE, Antonicka H, Shoubridge EA, Reardon W, Brown GK.
Oquendo CE, et al.
J Med Genet. 2004 Jul;41(7):540-4. doi: 10.1136/jmg.2003.017426.
J Med Genet. 2004.
PMID: 15235026
Free PMC article.
No abstract available.
Item in Clipboard
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.
Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA.
Antonicka H, et al.
Am J Hum Genet. 2003 Jan;72(1):101-14. doi: 10.1086/345489. Epub 2002 Dec 9.
Am J Hum Genet. 2003.
PMID: 12474143
Free PMC article.
Item in Clipboard
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain.
Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M.
Petruzzella V, et al.
Genomics. 1998 Dec 15;54(3):494-504. doi: 10.1006/geno.1998.5580.
Genomics. 1998.
PMID: 9878253
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Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency.
Kennaway NG, Carrero-Valenzuela RD, Ewart G, Balan VK, Lightowlers R, Zhang YZ, Powell BR, Capaldi RA, Buist NR.
Kennaway NG, et al.
Pediatr Res. 1990 Nov;28(5):529-35. doi: 10.1203/00006450-199011000-00024.
Pediatr Res. 1990.
PMID: 2175025
Review.
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