Maire I - Search Results

1

The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a.

Veiga-da-Cunha M, Gerin I, Chen YT, Lee PJ, Leonard JV, Maire I, Wendel U, Vikkula M, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: maire i. Eur J Hum Genet. 1999 Sep;7(6):717-23. doi: 10.1038/sj.ejhg.5200366. Eur J Hum Genet. 1999. PMID: 10482962

2

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: maire i. Am J Hum Genet. 1998 Oct;63(4):976-83. doi: 10.1086/302068. Am J Hum Genet. 1998. PMID: 9758626 Free PMC article.

3

Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a.

Bruni N, Rajas F, Montano S, Chevalier-Porst F, Maire I, Mithieux G. Bruni N, et al. Among authors: maire i. Ann Hum Genet. 1999 Mar;63(Pt 2):141-6. doi: 10.1046/j.1469-1809.1999.6320141.x. Ann Hum Genet. 1999. PMID: 10738525

4

Mutation analysis in 24 French patients with glycogen storage disease type 1a.

Chevalier-Porst F, Bozon D, Bonardot AM, Bruni N, Mithieux G, Mathieu M, Maire I. Chevalier-Porst F, et al. Among authors: maire i. J Med Genet. 1996 May;33(5):358-60. doi: 10.1136/jmg.33.5.358. J Med Genet. 1996. PMID: 8733042 Free PMC article.

5

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.

Vervoort R, Gitzelmann R, Bosshard N, Maire I, Liebaers I, Lissens W. Vervoort R, et al. Among authors: maire i. Hum Genet. 1998 Jan;102(1):69-78. doi: 10.1007/s004390050656. Hum Genet. 1998. PMID: 9490302

6

Differences in methylation patterns in the methylation boundary region of IDS gene in Hunter syndrome patients: implications for CpG hot spot mutations.

Tomatsu S, Sukegawa K, Trandafirescu GG, Gutierrez MA, Nishioka T, Yamaguchi S, Orii T, Froissart R, Maire I, Chabas A, Cooper A, Di Natale P, Gal A, Noguchi A, Sly WS. Tomatsu S, et al. Among authors: maire i. Eur J Hum Genet. 2006 Jul;14(7):838-45. doi: 10.1038/sj.ejhg.5201615. Epub 2006 Apr 12. Eur J Hum Genet. 2006. PMID: 16617305

7

Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations.

Tylki-Szymańska A, Millat G, Maire I, Czartoryska B. Tylki-Szymańska A, et al. Among authors: maire i. Eur J Hum Genet. 1996;4(6):334-7. doi: 10.1159/000472228. Eur J Hum Genet. 1996. PMID: 9043866

8

Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2).

Burwinkel B, Shin YS, Bakker HD, Deutsch J, Lozano MJ, Maire I, Kilimann MW. Burwinkel B, et al. Among authors: maire i. Hum Mol Genet. 1996 May;5(5):653-8. doi: 10.1093/hmg/5.5.653. Hum Mol Genet. 1996. PMID: 8733134

9

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.

Froissart R, Cheillan D, Bouvier R, Tourret S, Bonnet V, Piraud M, Maire I. Froissart R, et al. Among authors: maire i. J Med Genet. 2005 Nov;42(11):829-36. doi: 10.1136/jmg.2004.029744. Epub 2005 Apr 1. J Med Genet. 2005. PMID: 15805149 Free PMC article.

10

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients.

Tanaka A, Ohno K, Sandhoff K, Maire I, Kolodny EH, Brown A, Suzuki K. Tanaka A, et al. Among authors: maire i. Am J Hum Genet. 1990 Feb;46(2):329-39. Am J Hum Genet. 1990. PMID: 2137287 Free PMC article.

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