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Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background.
Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C, Valentino ML, Huoponen K, Savontaus ML, Nikoskelainen E, Sadun AA, Salomao SR, Belfort R Jr, Griffiths P, Yu-Wai-Man P, de Coo RF, Horvath R, Zeviani M, Smeets HJ, Torroni A, Chinnery PF. Hudson G, et al. Among authors: chinnery pf. Am J Hum Genet. 2007 Aug;81(2):228-33. doi: 10.1086/519394. Epub 2007 Jun 4. Am J Hum Genet. 2007. PMID: 17668373 Free PMC article.
Mitochondrial DNA mutations and pathogenicity.
Chinnery PF, Turnbull DM, Howell N, Andrews RM. Chinnery PF, et al. J Med Genet. 1998 Aug;35(8):701-2. doi: 10.1136/jmg.35.8.701-a. J Med Genet. 1998. PMID: 9719386 Free PMC article. No abstract available.
Genetic counseling and prenatal diagnosis for mtDNA disease.
Chinnery PF, Howell N, Lightowlers RN, Turnbull DM. Chinnery PF, et al. Am J Hum Genet. 1998 Dec;63(6):1908-11. doi: 10.1086/302157. Am J Hum Genet. 1998. PMID: 9837843 Free PMC article. No abstract available.
An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy.
Clark KM, Taylor RW, Johnson MA, Chinnery PF, Chrzanowska-Lightowlers ZM, Andrews RM, Nelson IP, Wood NW, Lamont PJ, Hanna MG, Lightowlers RN, Turnbull DM. Clark KM, et al. Among authors: chinnery pf. Am J Hum Genet. 1999 May;64(5):1330-9. doi: 10.1086/302361. Am J Hum Genet. 1999. PMID: 10205264 Free PMC article.
Nonrandom tissue distribution of mutant mtDNA.
Chinnery PF, Zwijnenburg PJ, Walker M, Howell N, Taylor RW, Lightowlers RN, Bindoff L, Turnbull DM. Chinnery PF, et al. Am J Med Genet. 1999 Aug 27;85(5):498-501. Am J Med Genet. 1999. PMID: 10405450
674 results