Steel G - Search Results

1

Type I hyperprolinemia: genotype/phenotype correlations.

Guilmatre A, Legallic S, Steel G, Willis A, Di Rosa G, Goldenberg A, Drouin-Garraud V, Guet A, Mignot C, Des Portes V, Valayannopoulos V, Van Maldergem L, Hoffman JD, Izzi C, Espil-Taris C, Orcesi S, Bonafé L, Le Galloudec E, Maurey H, Ioos C, Afenjar A, Blanchet P, Echenne B, Roubertie A, Frebourg T, Valle D, Campion D. Guilmatre A, et al. Among authors: steel g. Hum Mutat. 2010 Aug;31(8):961-5. doi: 10.1002/humu.21296. Hum Mutat. 2010. PMID: 20524212

2

Functional consequences of PRODH missense mutations.

Bender HU, Almashanu S, Steel G, Hu CA, Lin WW, Willis A, Pulver A, Valle D. Bender HU, et al. Among authors: steel g. Am J Hum Genet. 2005 Mar;76(3):409-20. doi: 10.1086/428142. Epub 2005 Jan 20. Am J Hum Genet. 2005. PMID: 15662599 Free PMC article.

3

PRODH variants and risk for schizophrenia.

Willis A, Bender HU, Steel G, Valle D. Willis A, et al. Among authors: steel g. Amino Acids. 2008 Nov;35(4):673-9. doi: 10.1007/s00726-008-0111-0. Epub 2008 Jun 5. Amino Acids. 2008. PMID: 18528746 Review.

4

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.

Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, Chakraborty PK, Clarke JT, Boneh A, Moser A, Moser H, Valle D. Braverman N, et al. Among authors: steel g. Hum Mutat. 2002 Oct;20(4):284-97. doi: 10.1002/humu.10124. Hum Mutat. 2002. PMID: 12325024

5

Phenylketonuria in U.S. blacks: molecular analysis of the phenylalanine hydroxylase gene.

Hofman KJ, Steel G, Kazazian HH, Valle D. Hofman KJ, et al. Among authors: steel g. Am J Hum Genet. 1991 Apr;48(4):791-8. Am J Hum Genet. 1991. PMID: 2014802 Free PMC article.

6

Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.

Weller S, Cajigas I, Morrell J, Obie C, Steel G, Gould SJ, Valle D. Weller S, et al. Among authors: steel g. Am J Hum Genet. 2005 Jun;76(6):987-1007. doi: 10.1086/430637. Epub 2005 Apr 27. Am J Hum Genet. 2005. PMID: 15858711 Free PMC article.

7

Transcriptional analysis of the human ornithine aminotransferase promoter.

Engelhardt JF, Steel G, Valle D. Engelhardt JF, et al. Among authors: steel g. J Biol Chem. 1991 Jan 15;266(2):752-8. J Biol Chem. 1991. PMID: 1845993 Free article.

8

Overexpression of proline oxidase induces proline-dependent and mitochondria-mediated apoptosis.

Hu CA, Donald SP, Yu J, Lin WW, Liu Z, Steel G, Obie C, Valle D, Phang JM. Hu CA, et al. Among authors: steel g. Mol Cell Biochem. 2007 Jan;295(1-2):85-92. doi: 10.1007/s11010-006-9276-6. Epub 2006 Jul 28. Mol Cell Biochem. 2007. PMID: 16874462

9

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase.

Baumgartner MR, Hu CA, Almashanu S, Steel G, Obie C, Aral B, Rabier D, Kamoun P, Saudubray JM, Valle D. Baumgartner MR, et al. Among authors: steel g. Hum Mol Genet. 2000 Nov 22;9(19):2853-8. doi: 10.1093/hmg/9.19.2853. Hum Mol Genet. 2000. PMID: 11092761

10

Identification of a fourth half ABC transporter in the human peroxisomal membrane.

Shani N, Jimenez-Sanchez G, Steel G, Dean M, Valle D. Shani N, et al. Among authors: steel g. Hum Mol Genet. 1997 Oct;6(11):1925-31. doi: 10.1093/hmg/6.11.1925. Hum Mol Genet. 1997. PMID: 9302272

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