Slim R - 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: slim r. Hum Genet. 1998 Aug;103(2):193-8. doi: 10.1007/s004390050806. Hum Genet. 1998. PMID: 9760205

2

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

Chaïb H, Kaplan J, Gerber S, Vincent C, Ayadi H, Slim R, Munnich A, Weissenbach J, Petit C. Chaïb H, et al. Among authors: slim r. Hum Mol Genet. 1997 Jan;6(1):27-31. doi: 10.1093/hmg/6.1.27. Hum Mol Genet. 1997. PMID: 9002666

3

Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers.

Mouglabey YB, Nimri S, Sayegh F, El Zir E, Slim R. Mouglabey YB, et al. Among authors: slim r. Clin Genet. 1998 Aug;54(2):155-8. doi: 10.1111/j.1399-0004.1998.tb03720.x. Clin Genet. 1998. PMID: 9761396

4

Further refinement of Pendred syndrome locus by homozygosity analysis to a 0.8 cM interval flanked by D7S496 and D7S2425.

Mustapha M, Azar ST, Moglabey YB, Saouda M, Zeitoun G, Loiselet J, Slim R. Mustapha M, et al. Among authors: slim r. J Med Genet. 1998 Mar;35(3):202-4. doi: 10.1136/jmg.35.3.202. J Med Genet. 1998. PMID: 9541103 Free PMC article.

5

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. Among authors: slim r. 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

6

Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.

Reddy R, Fahiminiya S, El Zir E, Mansour A, Megarbane A, Majewski J, Slim R. Reddy R, et al. Among authors: slim r. PLoS One. 2014 Sep 11;9(9):e107326. doi: 10.1371/journal.pone.0107326. eCollection 2014. PLoS One. 2014. PMID: 25211151 Free PMC article.

7

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.

Mégarbané A, Slim R, Nürnberg G, Ebermann I, Nürnberg P, Bolz HJ. Mégarbané A, et al. Among authors: slim r. Eur J Hum Genet. 2009 Aug;17(8):1076-9. doi: 10.1038/ejhg.2008.273. Epub 2009 Feb 4. Eur J Hum Genet. 2009. PMID: 19190672 Free PMC article.

8

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C. Verpy E, et al. Among authors: slim r. Nat Genet. 2000 Sep;26(1):51-5. doi: 10.1038/79171. Nat Genet. 2000. PMID: 10973247

9

A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.

Akoury E, El Zir E, Mansour A, Mégarbané A, Majewski J, Slim R. Akoury E, et al. Among authors: slim r. Ophthalmic Genet. 2011 Nov;32(4):245-9. doi: 10.3109/13816810.2011.587083. Epub 2011 Jun 15. Ophthalmic Genet. 2011. PMID: 21675857

10

Genetic mapping of a maternal locus responsible for familial hydatidiform moles.

Moglabey YB, Kircheisen R, Seoud M, El Mogharbel N, Van den Veyver I, Slim R. Moglabey YB, et al. Among authors: slim r. Hum Mol Genet. 1999 Apr;8(4):667-71. doi: 10.1093/hmg/8.4.667. Hum Mol Genet. 1999. PMID: 10072436

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