Bozon M - Search Results

1

Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation.

Lesca G, Bernard V, Bozon M, Touraine R, Gérard D, Edery P, Calender A. Lesca G, et al. Among authors: bozon m. Eur J Med Genet. 2007 May-Jun;50(3):200-8. doi: 10.1016/j.ejmg.2007.02.001. Epub 2007 Feb 20. Eur J Med Genet. 2007. PMID: 17383248

2

Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24.

Verot L, Alloisio N, Morlé L, Bozon M, Touraine R, Plauchu H, Edery P. Verot L, et al. Among authors: bozon m. Am J Med Genet A. 2003 Sep 15;122A(1):37-41. doi: 10.1002/ajmg.a.20221. Am J Med Genet A. 2003. PMID: 12949969

3

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.

Morlé L, Bozon M, Alloisio N, Latour P, Vandenberghe A, Plauchu H, Collet L, Edery P, Godet J, Lina-Granade G. Morlé L, et al. Among authors: bozon m. J Med Genet. 2000 May;37(5):368-70. doi: 10.1136/jmg.37.5.368. J Med Genet. 2000. PMID: 10807696 Free PMC article.

4

Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4 Mb region.

Michon L, Morlé L, Bozon M, Duret L, Zech JC, Godet J, Plauchu H, Edery P. Michon L, et al. Among authors: bozon m. Eur J Hum Genet. 2004 Jul;12(7):574-8. doi: 10.1038/sj.ejhg.5201197. Eur J Hum Genet. 2004. PMID: 15083168

5

New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.

Beby F, Commeaux C, Bozon M, Denis P, Edery P, Morlé L. Beby F, et al. Among authors: bozon m. Arch Ophthalmol. 2007 Feb;125(2):213-6. doi: 10.1001/archopht.125.2.213. Arch Ophthalmol. 2007. PMID: 17296897

6

X-linked partial corpus callosum agenesis with mild intellectual disability: identification of a novel L1CAM pathogenic variant.

Bousquet I, Bozon M, Castellani V, Touraine R, Piton A, Gérard B, Guibaud L, Sanlaville D, Edery P, Saugier-Veber P, Putoux A. Bousquet I, et al. Among authors: bozon m. Neurogenetics. 2021 Mar;22(1):43-51. doi: 10.1007/s10048-020-00629-y. Epub 2021 Jan 7. Neurogenetics. 2021. PMID: 33415589

7

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

Morlé L, Bozon M, Zech JC, Alloisio N, Raas-Rothschild A, Philippe C, Lambert JC, Godet J, Plauchu H, Edery P. Morlé L, et al. Among authors: bozon m. Am J Hum Genet. 2000 Dec;67(6):1592-7. doi: 10.1086/316894. Epub 2000 Oct 13. Am J Hum Genet. 2000. PMID: 11035633 Free PMC article.

8

Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss.

Alloisio N, Morlé L, Bozon M, Godet J, Verhoeven K, Van Camp G, Plauchu H, Muller P, Collet L, Lina-Granade G. Alloisio N, et al. Among authors: bozon m. Eur J Hum Genet. 1999 Feb-Mar;7(2):255-8. doi: 10.1038/sj.ejhg.5200273. Eur J Hum Genet. 1999. PMID: 10196713

9

A premature termination codon within an alternative exon affecting only the metabolism of transcripts that retain this exon.

Maillet P, Dalla Venezia N, Lorenzo F, Morinière M, Bozon M, Noël B, Delaunay J, Baklouti F. Maillet P, et al. Among authors: bozon m. Hum Mutat. 1999;14(2):145-55. doi: 10.1002/(SICI)1098-1004(1999)14:2<145::AID-HUMU6>3.0.CO;2-L. Hum Mutat. 1999. PMID: 10425037

10

A point mutation in the protein 4.2 gene (allele 4.2 Tozeur) associated with hereditary haemolytic anaemia.

Hayette S, Morle L, Bozon M, Ghanem A, Risinger M, Korsgren C, Tanner MJ, Fattoum S, Cohen CM, Delaunay J. Hayette S, et al. Among authors: bozon m. Br J Haematol. 1995 Apr;89(4):762-70. doi: 10.1111/j.1365-2141.1995.tb08413.x. Br J Haematol. 1995. PMID: 7772513

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