Literature DB >> 14757869

Mitochondrial DNA deletion in "identical" twin brothers.

E L Blakely1, L He, R W Taylor, P F Chinnery, R N Lightowlers, A M Schaefer, D M Turnbull.   

Abstract

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Year:  2004        PMID： 14757869      PMCID： PMC1735670          DOI： 10.1136/jmg.2003.011296

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  19 in total

1.  Analysis of mitochondrial length heteroplasmy in monozygous and non-monozygous siblings.

Authors:  S Lutz-Bonengel; U Schmidt; T Sänger; M Heinrich; P M Schneider; S Pollak
Journal:  Int J Legal Med       Date:  2008-05-14       Impact factor: 2.686

2.  Mitochondrial DNA mutation load: chance or destiny?

Authors:  Salvatore DiMauro
Journal:  JAMA Neurol       Date:  2013-12       Impact factor: 18.302

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

Authors:  Matthew J Longley; Susanna Clark; Cynthia Yu Wai Man; Gavin Hudson; Steve E Durham; Robert W Taylor; Simon Nightingale; Douglass M Turnbull; William C Copeland; Patrick F Chinnery
Journal:  Am J Hum Genet       Date:  2006-05-04       Impact factor: 11.025

4.  Behavioral genetic approach to the study of dyslexia.

Authors:  Brooke Soden Hensler; Christopher Schatschneider; Jeanette Taylor; Richard K Wagner
Journal:  J Dev Behav Pediatr       Date:  2010-09       Impact factor: 2.225

5.  Understandings of basic genetics in the United States: results from a national survey of black and white men and women.

Authors:  K D Christensen; T E Jayaratne; J S Roberts; S L R Kardia; E M Petty
Journal:  Public Health Genomics       Date:  2010-03-05       Impact factor: 2.000

6.  Clinical and pathological features of mitochondrial DNA deletion disease following antiretroviral treatment.

Authors:  Brendan A I Payne; Kristian Gardner; Emma L Blakely; Paul Maddison; Rita Horvath; Robert W Taylor; Patrick F Chinnery
Journal:  JAMA Neurol       Date:  2015-05       Impact factor: 18.302

7.  Near-identical segregation of mtDNA heteroplasmy in blood, muscle, urinary epithelium, and hair follicles in twins with optic atrophy, ptosis, and intractable epilepsy.

Authors:  Achilles Spyropoulos; Mark Manford; Rita Horvath; Charlotte L Alston; Patrick Yu-Wai-Man; Langping He; Robert W Taylor; Patrick F Chinnery
Journal:  JAMA Neurol       Date:  2013-12       Impact factor: 18.302

8.  Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.

Authors:  Penelope E Bonnen; John W Yarham; Arnaud Besse; Ping Wu; Eissa A Faqeih; Ali Mohammad Al-Asmari; Mohammad A M Saleh; Wafaa Eyaid; Alrukban Hadeel; Langping He; Frances Smith; Shu Yau; Eve M Simcox; Satomi Miwa; Taraka Donti; Khaled K Abu-Amero; Lee-Jun Wong; William J Craigen; Brett H Graham; Kenneth L Scott; Robert McFarland; Robert W Taylor
Journal:  Am J Hum Genet       Date:  2013-08-29       Impact factor: 11.025

9.  The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.

Authors:  John W Yarham; Emma L Blakely; Charlotte L Alston; Mark E Roberts; John Ealing; Piyali Pal; Douglass M Turnbull; Robert McFarland; Robert W Taylor
Journal:  J Neurol Sci       Date:  2012-12-27       Impact factor: 3.181

10.  Prevalence and progression of diabetes in mitochondrial disease.

Authors:  R G Whittaker; A M Schaefer; R McFarland; R W Taylor; M Walker; D M Turnbull
Journal:  Diabetologia       Date:  2007-07-26       Impact factor: 10.122
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