Mégarbané A - Search Results

1

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: megarbane a. Hum Genet. 1998 Aug;103(2):193-8. doi: 10.1007/s004390050806. Hum Genet. 1998. PMID: 9760205

2

Clinical manifestation of a severe neonatal progeroid syndrome.

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

3

Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities.

Desgeorges M, Mégarbané A, Guittard C, Carles S, Loiselet J, Demaille J, Claustres M. Desgeorges M, et al. Among authors: megarbane a. Hum Genet. 1997 Aug;100(2):279-83. doi: 10.1007/s004390050505. Hum Genet. 1997. PMID: 9254864

4

New form of hidrotic ectodermal dysplasia in a Lebanese family.

Mégarbané A, Noujeim Z, Fabre M, Der Kaloustian VM. Mégarbané A, et al. Am J Med Genet. 1998 Jan 13;75(2):196-9. Am J Med Genet. 1998. PMID: 9450885

5

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. 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

6

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. Am J Med Genet. 1999 Nov 5;87(1):88-90. Am J Med Genet. 1999. PMID: 10528257 No abstract available.

7

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. 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

8

Genetic screening of fourteen mutations in Jordanian familial Mediterranean fever patients.

Medlej-Hashim M, Rawashdeh M, Chouery E, Mansour I, Delague V, Lefranc G, Naman R, Loiselet J, Mégarbané A. Medlej-Hashim M, et al. Among authors: megarbane a. Hum Mutat. 2000 Apr;15(4):384. doi: 10.1002/(SICI)1098-1004(200004)15:4<384::AID-HUMU19>3.0.CO;2-U. Hum Mutat. 2000. PMID: 10737992

9

Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?

Mégarbané A, Desguerres I, Rizkallah E, Delague V, Nabbout R, Barois A, Urtizberea A. Mégarbané A, et al. Am J Med Genet. 2000 May 15;92(2):117-21. doi: 10.1002/(sici)1096-8628(20000515)92:2<117::aid-ajmg7>3.0.co;2-c. Am J Med Genet. 2000. PMID: 10797435 Review.

10

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: megarbane a. 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.

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