Maire I - Search Results

1

Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients.

Froissart R, Maire I, Millat G, Cudry S, Birot AM, Bonnet V, Bouton O, Bozon D. Froissart R, et al. Among authors: maire i. Clin Genet. 1998 May;53(5):362-8. doi: 10.1111/j.1399-0004.1998.tb02746.x. Clin Genet. 1998. PMID: 9660053

2

Processing of iduronate 2-sulphatase in human fibroblasts.

Froissart R, Millat G, Mathieu M, Bozon D, Maire I. Froissart R, et al. Among authors: maire i. Biochem J. 1995 Jul 15;309 ( Pt 2)(Pt 2):425-30. doi: 10.1042/bj3090425. Biochem J. 1995. PMID: 7626005 Free PMC article.

3

Hunter syndrome: gene deletions and rearrangements.

Froissart R, Blond JL, Maire I, Guibaud P, Hopwood JJ, Mathieu M, Bozon D. Froissart R, et al. Among authors: maire i. Hum Mutat. 1993;2(2):138-40. doi: 10.1002/humu.1380020214. Hum Mutat. 1993. PMID: 8318991 No abstract available.

4

IDS gene-pseudogene exchange responsible for an intragenic deletion in a Hunter patient.

Birot AM, Bouton O, Froissart R, Maire I, Bozon D. Birot AM, et al. Among authors: maire i. Hum Mutat. 1996;8(1):44-50. doi: 10.1002/(SICI)1098-1004(1996)8:1<44::AID-HUMU6>3.0.CO;2-P. Hum Mutat. 1996. PMID: 8807335

5

Germline and somatic mosaicism in a female carrier of Hunter disease.

Froissart R, Maire I, Bonnet V, Levade T, Bozon D. Froissart R, et al. Among authors: maire i. J Med Genet. 1997 Feb;34(2):137-40. doi: 10.1136/jmg.34.2.137. J Med Genet. 1997. PMID: 9039991 Free PMC article.

6

Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue.

Millat G, Froissart R, Maire I, Bozon D. Millat G, et al. Among authors: maire i. Biochem J. 1997 Aug 15;326 ( Pt 1)(Pt 1):243-7. doi: 10.1042/bj3260243. Biochem J. 1997. PMID: 9337875 Free PMC article.

7

COS cell expression studies of P86L, P86R, P480L and P480Q Hunter's disease-causing mutations.

Millat G, Froissart R, Cudry S, Bonnet V, Maire I, Bozon D. Millat G, et al. Among authors: maire i. Biochim Biophys Acta. 1998 Mar 5;1406(2):214-8. doi: 10.1016/s0925-4439(97)00096-3. Biochim Biophys Acta. 1998. PMID: 9573369 Free article.

8

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.

9

Mucopolysaccharidosis type II: an update on mutation spectrum.

Froissart R, Da Silva IM, Maire I. Froissart R, et al. Among authors: maire i. Acta Paediatr. 2007 Apr;96(455):71-7. doi: 10.1111/j.1651-2227.2007.00213.x. Acta Paediatr. 2007. PMID: 17391447 Review.

10

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.

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