Loiselet J - Search Results

1

Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese family.

Mégarbané A, Mustapha M, Bleik J, Waked N, Delague V, Loiselet J. Mégarbané A, et al. Among authors: loiselet j. Clin Genet. 2000 Dec;58(6):473-8. doi: 10.1034/j.1399-0004.2000.580608.x. Clin Genet. 2000. PMID: 11149617

2

A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze Family.

Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Mégarbané A, Claustres M. Delague V, et al. Among authors: loiselet j. Neurogenetics. 2002 Mar;4(1):23-7. doi: 10.1007/s10048-001-0127-z. Neurogenetics. 2002. PMID: 12030328

3

Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.

Medlej-Hashim M, Mustapha M, Chouery E, Weil D, Parronaud J, Salem N, Delague V, Loiselet J, Lathrop M, Petit C, Mégarbané A. Medlej-Hashim M, et al. Among authors: loiselet j. Eur J Hum Genet. 2002 Jun;10(6):391-4. doi: 10.1038/sj.ejhg.5200813. Eur J Hum Genet. 2002. PMID: 12080392

4

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Mégarbané A, Claustres M. Delague V, et al. Among authors: loiselet j. Am J Hum Genet. 2000 Jul;67(1):236-43. doi: 10.1086/302980. Epub 2000 Jun 2. Am J Hum Genet. 2000. PMID: 10848494 Free PMC article.

5

Nonprogressive autosomal recessive ataxia maps to chromosome 9q34-9qter in a large consanguineous Lebanese family.

Delague V, Bareil C, Bouvagnet P, Salem N, Chouery E, Loiselet J, Mégarbané A, Claustres M. Delague V, et al. Among authors: loiselet j. Ann Neurol. 2001 Aug;50(2):250-3. Ann Neurol. 2001. PMID: 11506409

6

The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region.

Saouda M, Mansour A, Bou Moglabey Y, El Zir E, Mustapha M, Chaib H, Nehmé A, Mégarbané A, Loiselet J, Petit C, Slim R. Saouda M, et al. Among authors: loiselet j. Hum Genet. 1998 Aug;103(2):193-8. doi: 10.1007/s004390050806. Hum Genet. 1998. PMID: 9760205

7

A sensorineural progressive autosomal recessive form of isolated deafness, DFNB13, maps to chromosome 7q34-q36.

Mustapha M, Chardenoux S, Nieder A, Salem N, Weissenbach J, el-Zir E, Loiselet J, Petit C. Mustapha M, et al. Among authors: loiselet j. Eur J Hum Genet. 1998 May-Jun;6(3):245-50. doi: 10.1038/sj.ejhg.5200177. Eur J Hum Genet. 1998. PMID: 9781028

8

Autosomal dominant secundum atrial septal defect with various cardiac and noncardiac defects: a new midline disorder.

Mégarbané A, Stephan E, Kassab R, Ashoush R, Salem N, Bouvagnet P, Loiselet J. Mégarbané A, et al. Among authors: loiselet j. Am J Med Genet. 1999 Mar 19;83(3):193-200. doi: 10.1002/(sici)1096-8628(19990319)83:3<193::aid-ajmg10>3.0.co;2-m. Am J Med Genet. 1999. PMID: 10096596

9

Clinical manifestation of a severe neonatal progeroid syndrome.

Mégarbané A, Loiselet J. Mégarbané A, et al. Among authors: loiselet j. Clin Genet. 1997 Mar;51(3):200-4. doi: 10.1111/j.1399-0004.1997.tb02453.x. Clin Genet. 1997. PMID: 9137887

10

A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.

Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C, Weil D. Mustapha M, et al. Among authors: loiselet j. Hum Genet. 2002 Apr;110(4):348-50. doi: 10.1007/s00439-002-0690-x. Epub 2002 Mar 12. Hum Genet. 2002. PMID: 11941484

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