Maire I - Search Results

1

Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.

Diaz GA, Gelb BD, Risch N, Nygaard TG, Frisch A, Cohen IJ, Miranda CS, Amaral O, Maire I, Poenaru L, Caillaud C, Weizberg M, Mistry P, Desnick RJ. Diaz GA, et al. Among authors: maire i. Am J Hum Genet. 2000 Jun;66(6):1821-32. doi: 10.1086/302946. Epub 2000 Apr 21. Am J Hum Genet. 2000. PMID: 10777718 Free PMC article.

2

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.

Yasuda M, Shabbeer J, Benson SD, Maire I, Burnett RM, Desnick RJ. Yasuda M, et al. Among authors: maire i. Hum Mutat. 2003 Dec;22(6):486-92. doi: 10.1002/humu.10275. Hum Mutat. 2003. PMID: 14635108

3

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.

Froissart R, Guffon N, Vanier MT, Desnick RJ, Maire I. Froissart R, et al. Among authors: maire i. Mol Genet Metab. 2003 Nov;80(3):307-14. doi: 10.1016/S1096-7192(03)00136-7. Mol Genet Metab. 2003. PMID: 14680977

4

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

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

Perinatal-lethal Gaucher disease.

Mignot C, Gelot A, Bessières B, Daffos F, Voyer M, Menez F, Fallet Bianco C, Odent S, Le Duff D, Loget P, Fargier P, Costil J, Josset P, Roume J, Vanier MT, Maire I, Billette de Villemeur T. Mignot C, et al. Among authors: maire i. Am J Med Genet A. 2003 Jul 30;120A(3):338-44. doi: 10.1002/ajmg.a.20117. Am J Med Genet A. 2003. PMID: 12838552

7

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.

8

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.

Héron B, Mikaeloff Y, Froissart R, Caridade G, Maire I, Caillaud C, Levade T, Chabrol B, Feillet F, Ogier H, Valayannopoulos V, Michelakakis H, Zafeiriou D, Lavery L, Wraith E, Danos O, Heard JM, Tardieu M. Héron B, et al. Among authors: maire i. Am J Med Genet A. 2011 Jan;155A(1):58-68. doi: 10.1002/ajmg.a.33779. Am J Med Genet A. 2011. PMID: 21204211

9

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Hrebícek M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, Nosková L, Hartmannová H, Ivánek R, Cízkova A, Poupetová H, Sikora J, Urinovská J, Stranecký V, Zeman J, Lepage P, Roquis D, Verner A, Ausseil J, Beesley CE, Maire I, Poorthuis BJ, van de Kamp J, van Diggelen OP, Wevers RA, Hudson TJ, Fujiwara TM, Majewski J, Morgan K, Kmoch S, Pshezhetsky AV. Hrebícek M, et al. Among authors: maire i. Am J Hum Genet. 2006 Nov;79(5):807-19. doi: 10.1086/508294. Epub 2006 Sep 8. Am J Hum Genet. 2006. PMID: 17033958 Free PMC article.

10

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

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