Megarbane A - Search Results

1

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene.

Chebly A, Corbani S, Abou Ghoch J, Mehawej C, Megarbane A, Chouery E. Chebly A, et al. Among authors: megarbane a. BMC Med Genet. 2018 Sep 10;19(1):161. doi: 10.1186/s12881-018-0677-7. BMC Med Genet. 2018. PMID: 30200888 Free PMC article.

2

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

3

Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins: a new MCA/MR syndrome?

Mégarbané A, Haddad-Zebouni S, Nabbout R, Khoury AH, Traboulsi EI. Mégarbané A, et al. Am J Med Genet. 1999 Mar 12;83(2):82-7. Am J Med Genet. 1999. PMID: 10190477

4

[Cockayne syndrome in Lebanon. Description of 3 cases and review of the literature].

Jabre P, Mezzina M, Megarbane A. Jabre P, et al. Among authors: megarbane a. J Med Liban. 1999 Mar-Apr;47(2):144-7. J Med Liban. 1999. PMID: 10410472 Review. French.

5

Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?

Mégarbané A, Choueiri R, Bleik J, Mezzina M, Caillaud C. Mégarbané A, et al. J Med Genet. 1999 Aug;36(8):637-40. J Med Genet. 1999. PMID: 10465117 Free PMC article.

6

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

7

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.

8

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.

9

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

10

Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.

Mégarbané A, Waked N, Chouery E, Moglabey YB, Saliba N, Mornet E, Serre JL, Slim R. Mégarbané A, et al. Am J Med Genet. 2001 Jan 22;98(3):244-9. doi: 10.1002/1096-8628(20010122)98:3<244::aid-ajmg1084>3.0.co;2-w. Am J Med Genet. 2001. PMID: 11169562

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