Loiselet J - Search Results

1

Autosomal recessive congenital cerebellar hypoplasia and short stature in a large inbred family.

Mégarbané A, Delague V, Salem N, Loiselet J. Mégarbané A, et al. Among authors: loiselet j. Am J Med Genet. 1999 Nov 5;87(1):88-90. Am J Med Genet. 1999. PMID: 10528257 No abstract available.

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

Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.

Medlej-Hashim M, Chouery E, Salem N, Delague V, Lefranc G, Loiselet J, Mégarbané A. Medlej-Hashim M, et al. Among authors: loiselet j. Eur J Med Genet. 2011 Jan-Feb;54(1):50-4. doi: 10.1016/j.ejmg.2010.10.001. Epub 2010 Oct 15. Eur J Med Genet. 2011. PMID: 20937419

4

Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders.

Mégarbané A, Khalil G, Waked N, Rötig A, Caillaud C, Loiselet J. Mégarbané A, et al. Among authors: loiselet j. Am J Med Genet. 1999 Dec 3;87(4):289-93. doi: 10.1002/(sici)1096-8628(19991203)87:4<289::aid-ajmg1>3.0.co;2-t. Am J Med Genet. 1999. PMID: 10588831

5

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.

6

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

7

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

8

Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.

Mustapha M, Salem N, Delague V, Chouery E, Ghassibeh M, Rai M, Loiselet J, Petit C, Mégarbané A. Mustapha M, et al. Among authors: loiselet j. J Med Genet. 2001 Oct;38(10):E36. doi: 10.1136/jmg.38.10.e36. J Med Genet. 2001. PMID: 11584050 Free PMC article. No abstract available.

9

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

10

A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities.

Mégarbané A, Rassi S, Chouery E, Delague V, Perez de Nanclares Leal G, Tabet M, Castaño L, Loiselet J. Mégarbané A, et al. Among authors: loiselet j. Am J Med Genet A. 2003 Jul 15;120A(2):276-82. doi: 10.1002/ajmg.a.20077. Am J Med Genet A. 2003. PMID: 12833414

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