Mitchell GA - Search Results

1

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

2

Prenatal diagnosis of fetal anomalies during the second trimester of pregnancy: their characterization and delineation of defects in pregnancies at risk.

Dallaire L, Michaud J, Melancon SB, Potier M, Lambert M, Mitchell G, Boisvert J. Dallaire L, et al. Prenat Diagn. 1991 Aug;11(8):629-35. doi: 10.1002/pd.1970110821. Prenat Diagn. 1991. PMID: 1837356

3

Molecular prenatal diagnosis of 3-hydroxy-3-methylglutaryl CoA lyase deficiency.

Mitchell GA, Jakobs C, Gibson KM, Robert MF, Burlina A, Dionisi-Vici C, Dallaire L. Mitchell GA, et al. Prenat Diagn. 1995 Aug;15(8):725-9. doi: 10.1002/pd.1970150807. Prenat Diagn. 1995. PMID: 7479590

4

Pyridoxine-responsive gyrate atrophy of the choroid and retina: clinical and biochemical correlates of the mutation A226V.

Michaud J, Thompson GN, Brody LC, Steel G, Obie C, Fontaine G, Schappert K, Keith CG, Valle D, Mitchell GA. Michaud J, et al. Among authors: mitchell ga. Am J Hum Genet. 1995 Mar;56(3):616-22. Am J Hum Genet. 1995. PMID: 7887415 Free PMC article. Clinical Trial.

5

Alu sequences in the coding regions of mRNA: a source of protein variability.

Makałowski W, Mitchell GA, Labuda D. Makałowski W, et al. Among authors: mitchell ga. Trends Genet. 1994 Jun;10(6):188-93. doi: 10.1016/0168-9525(94)90254-2. Trends Genet. 1994. PMID: 8073532

6

3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency.

Mitchell GA, Robert MF, Hruz PW, Wang S, Fontaine G, Behnke CE, Mende-Mueller LM, Schappert K, Lee C, Gibson KM, Miziorko HM, et al. Mitchell GA, et al. J Biol Chem. 1993 Feb 25;268(6):4376-81. J Biol Chem. 1993. PMID: 8440722

7

Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.

Kassovska-Bratinova S, Fukao T, Song XQ, Duncan AM, Chen HS, Robert MF, Pérez-Cerdá C, Ugarte M, Chartrand C, Vobecky S, Kondo N, Mitchell GA. Kassovska-Bratinova S, et al. Among authors: mitchell ga. Am J Hum Genet. 1996 Sep;59(3):519-28. Am J Hum Genet. 1996. PMID: 8751852 Free PMC article.

8

HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q.

Mitchell GA, Ozand PT, Robert MF, Ashmarina L, Roberts J, Gibson KM, Wanders RJ, Wang S, Chevalier I, Plöchl E, Miziorko H. Mitchell GA, et al. Am J Hum Genet. 1998 Feb;62(2):295-300. doi: 10.1086/301730. Am J Hum Genet. 1998. PMID: 9463337 Free PMC article.

9

3-Hydroxy-3-methylglutaryl-CoA lyase (HL): gene targeting causes prenatal lethality in HL-deficient mice.

Wang SP, Marth JD, Oligny LL, Vachon M, Robert MF, Ashmarina L, Mitchell GA. Wang SP, et al. Among authors: mitchell ga. Hum Mol Genet. 1998 Dec;7(13):2057-62. doi: 10.1093/hmg/7.13.2057. Hum Mol Genet. 1998. PMID: 9817922

10

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

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