Mitchell GA - Search Results

1

A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16.

Lee N, Daly MJ, Delmonte T, Lander ES, Xu F, Hudson TJ, Mitchell GA, Morin CC, Robinson BH, Rioux JD. Lee N, et al. Among authors: mitchell ga. Am J Hum Genet. 2001 Feb;68(2):397-409. doi: 10.1086/318197. Epub 2001 Jan 10. Am J Hum Genet. 2001. PMID: 11156535 Free PMC article.

2

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.

Merante F, Petrova-Benedict R, MacKay N, Mitchell G, Lambert M, Morin C, De Braekeleer M, Laframboise R, Gagné R, Robinson BH. Merante F, et al. Am J Hum Genet. 1993 Aug;53(2):481-7. Am J Hum Genet. 1993. PMID: 8392290 Free PMC article.

3

Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.

Morin C, Mitchell G, Larochelle J, Lambert M, Ogier H, Robinson BH, De Braekeleer M. Morin C, et al. Am J Hum Genet. 1993 Aug;53(2):488-96. Am J Hum Genet. 1993. PMID: 8392291 Free PMC article.

4

Saguenay Lac Saint Jean cytochrome oxidase deficiency: sequence analysis of nuclear encoded COX subunits, chromosomal localization and a sequence anomaly in subunit VIc.

Lee N, Morin C, Mitchell G, Robinson BH. Lee N, et al. Biochim Biophys Acta. 1998 Feb 27;1406(1):1-4. doi: 10.1016/s0925-4439(98)00003-9. Biochim Biophys Acta. 1998. PMID: 9545512 Free article.

5

Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.

Mootha VK, Lepage P, Miller K, Bunkenborg J, Reich M, Hjerrild M, Delmonte T, Villeneuve A, Sladek R, Xu F, Mitchell GA, Morin C, Mann M, Hudson TJ, Robinson B, Rioux JD, Lander ES. Mootha VK, et al. Among authors: mitchell ga. Proc Natl Acad Sci U S A. 2003 Jan 21;100(2):605-10. doi: 10.1073/pnas.242716699. Epub 2003 Jan 14. Proc Natl Acad Sci U S A. 2003. PMID: 12529507 Free PMC article.

6

Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency.

Morin C, Dubé J, Robinson BH, Lacroix J, Michaud J, De Braekeleer M, Geoffroy G, Lortie A, Blanchette C, Lambert MA, Mitchell GA. Morin C, et al. Among authors: mitchell ga. Ann Neurol. 1999 Mar;45(3):389-92. Ann Neurol. 1999. PMID: 10072055

7

Localization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotype.

Bétard C, Rasquin-Weber A, Brewer C, Drouin E, Clark S, Verner A, Darmond-Zwaig C, Fortin J, Mercier J, Chagnon P, Fujiwara TM, Morgan K, Richter A, Hudson TJ, Mitchell GA. Bétard C, et al. Among authors: mitchell ga. Am J Hum Genet. 2000 Jul;67(1):222-8. doi: 10.1086/302993. Epub 2000 May 11. Am J Hum Genet. 2000. PMID: 10820129 Free PMC article.

8

Chromosomal localization of the human liver form cytochrome c oxidase subunit VIIa gene.

Merante F, Duncan AM, Mitchell G, Duff C, Rommens J, Robinson BH. Merante F, et al. Genome. 1997 Jun;40(3):318-24. doi: 10.1139/g97-044. Genome. 1997. PMID: 9202412

9

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency.

Debray FG, Morin C, Janvier A, Villeneuve J, Maranda B, Laframboise R, Lacroix J, Decarie JC, Robitaille Y, Lambert M, Robinson BH, Mitchell GA. Debray FG, et al. Among authors: mitchell ga. J Med Genet. 2011 Mar;48(3):183-9. doi: 10.1136/jmg.2010.081976. Epub 2011 Jan 25. J Med Genet. 2011. PMID: 21266382

10

Pyruvate carboxylase deficiency: prenatal onset of ischemia-like brain lesions in two sibs with the acute neonatal form.

Brun N, Robitaille Y, Grignon A, Robinson BH, Mitchell GA, Lambert M. Brun N, et al. Among authors: mitchell ga. Am J Med Genet. 1999 May 21;84(2):94-101. Am J Med Genet. 1999. PMID: 10323732

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