Mégarbané A - Search Results

1

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.

Nair P, El-Bazzal L, Mansour H, Sabbagh S, Al-Ali MT, Gambarini A, Delague V, El-Hayek S, Mégarbané A. Nair P, et al. Among authors: megarbane a. J Pediatr Genet. 2019 Dec;8(4):252-256. doi: 10.1055/s-0039-1693664. Epub 2019 Jul 30. J Pediatr Genet. 2019. PMID: 31687267 Free PMC article.

2

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.

3

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.

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: 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.

5

Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.

Delague V, Souraty N, Khallouf E, Tardy V, Chouery E, Halaby G, Loiselet J, Morel Y, Mégarbané A. Delague V, et al. Among authors: megarbane a. Horm Res. 2000;53(2):77-82. doi: 10.1159/000023518. Horm Res. 2000. PMID: 10971093

6

X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3.

Mégarbané A, Salem N, Stephan E, Ashoush R, Lenoir D, Delague V, Kassab R, Loiselet J, Bouvagnet P. Mégarbané A, et al. Eur J Hum Genet. 2000 Sep;8(9):704-8. doi: 10.1038/sj.ejhg.5200526. Eur J Hum Genet. 2000. PMID: 10980576

7

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. Clin Genet. 2000 Dec;58(6):473-8. doi: 10.1034/j.1399-0004.2000.580608.x. Clin Genet. 2000. PMID: 11149617

8

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Mégarbané A, Claustres M. Guilbot A, et al. Among authors: megarbane a. Hum Mol Genet. 2001 Feb 15;10(4):415-21. doi: 10.1093/hmg/10.4.415. Hum Mol Genet. 2001. PMID: 11157804

9

Familial Mediterranean fever in Lebanon: mutation spectrum, evidence for cases in Maronites, Greek orthodoxes, Greek catholics, Syriacs and Chiites and for an association between amyloidosis and M694V and M694I mutations.

Mansour I, Delague V, Cazeneuve C, Dodé C, Chouery E, Pêcheux C, Medlej-Hashim M, Salem N, El Zein L, Levan-Petit I, Lefranc G, Goossens M, Delpech M, Amselem S, Loiselet J, Grateau G, Mégarbane A, Naman R. Mansour I, et al. Among authors: megarbane a. Eur J Hum Genet. 2001 Jan;9(1):51-5. doi: 10.1038/sj.ejhg.5200574. Eur J Hum Genet. 2001. PMID: 11175300

10

New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese family.

Mégarbané A, Delague V, Ruchoux MM, Rizkallah E, Maurage CA, Viollet L, Rouaix-Emery N, Urtizberea A. Mégarbané A, et al. Am J Med Genet. 2001 Jun 15;101(2):135-41. doi: 10.1002/1096-8628(20010615)101:2<135::aid-ajmg1134>3.0.co;2-j. Am J Med Genet. 2001. PMID: 11391656

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