Chinnery PF - Search Results

1

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts.

Guyatt AL, Brennan RR, Burrows K, Guthrie PAI, Ascione R, Ring SM, Gaunt TR, Pyle A, Cordell HJ, Lawlor DA, Chinnery PF, Hudson G, Rodriguez S. Guyatt AL, et al. Among authors: chinnery pf. Hum Genomics. 2019 Jan 31;13(1):6. doi: 10.1186/s40246-018-0190-2. Hum Genomics. 2019. PMID: 30704525 Free PMC article.

2

Can mitochondrial DNA mutations cause sperm dysfunction?

Spiropoulos J, Turnbull DM, Chinnery PF. Spiropoulos J, et al. Among authors: chinnery pf. Mol Hum Reprod. 2002 Aug;8(8):719-21. doi: 10.1093/molehr/8.8.719. Mol Hum Reprod. 2002. PMID: 12149402

3

Noninvasive diagnosis of the 3243A > G mitochondrial DNA mutation using urinary epithelial cells.

McDonnell MT, Schaefer AM, Blakely EL, McFarland R, Chinnery PF, Turnbull DM, Taylor RW. McDonnell MT, et al. Among authors: chinnery pf. Eur J Hum Genet. 2004 Sep;12(9):778-81. doi: 10.1038/sj.ejhg.5201216. Eur J Hum Genet. 2004. PMID: 15199381

4

Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.

Hudson G, Deschauer M, Busse K, Zierz S, Chinnery PF. Hudson G, et al. Among authors: chinnery pf. Neurology. 2005 Jan 25;64(2):371-3. doi: 10.1212/01.WNL.0000149767.51152.83. Neurology. 2005. PMID: 15668446

5

Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD.

Pyle A, Foltynie T, Tiangyou W, Lambert C, Keers SM, Allcock LM, Davison J, Lewis SJ, Perry RH, Barker R, Burn DJ, Chinnery PF. Pyle A, et al. Among authors: chinnery pf. Ann Neurol. 2005 Apr;57(4):564-7. doi: 10.1002/ana.20417. Ann Neurol. 2005. PMID: 15786469

6

Mitochondrial DNA and survival after sepsis: a prospective study.

Baudouin SV, Saunders D, Tiangyou W, Elson JL, Poynter J, Pyle A, Keers S, Turnbull DM, Howell N, Chinnery PF. Baudouin SV, et al. Among authors: chinnery pf. Lancet. 2005 Dec 17;366(9503):2118-21. doi: 10.1016/S0140-6736(05)67890-7. Lancet. 2005. PMID: 16360789

7

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder.

Hudson G, Keers S, Yu-Wai-Man P, Griffiths P, Huoponen K, Savontaus ML, Nikoskelainen E, Zeviani M, Carrara F, Horvath R, Karcagi V, Spruijt L, de Coo IF, Smeets HJ, Chinnery PF. Hudson G, et al. Among authors: chinnery pf. Am J Hum Genet. 2005 Dec;77(6):1086-91. doi: 10.1086/498176. Epub 2005 Oct 11. Am J Hum Genet. 2005. PMID: 16380918 Free PMC article.

8

POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

Hudson G, Deschauer M, Taylor RW, Hanna MG, Fialho D, Schaefer AM, He LP, Blakely E, Turnbull DM, Chinnery PF. Hudson G, et al. Among authors: chinnery pf. Neurology. 2006 May 9;66(9):1439-41. doi: 10.1212/01.wnl.0000210486.32196.24. Neurology. 2006. PMID: 16682683

9

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.

Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF. Longley MJ, et al. Among authors: chinnery pf. Am J Hum Genet. 2006 Jun;78(6):1026-34. doi: 10.1086/504303. Epub 2006 May 4. Am J Hum Genet. 2006. PMID: 16685652 Free PMC article.

10

The mitochondrial DNA A3243A>G mutation must be an infrequent cause of Asperger syndrome.

Kent L, Lambert C, Pyle A, Elliott H, Wheelwright S, Baron-Cohen S, Chinnery PF. Kent L, et al. Among authors: chinnery pf. J Pediatr. 2006 Aug;149(2):280-1. doi: 10.1016/j.jpeds.2005.08.060. J Pediatr. 2006. PMID: 16887455 No abstract available.

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