Abdelhak S - Search Results

1

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, König R, Vigneron J, Weissenbach J, Petit C, Weil D. Abdelhak S, et al. Hum Mol Genet. 1997 Dec;6(13):2247-55. doi: 10.1093/hmg/6.13.2247. Hum Mol Genet. 1997. PMID: 9361030

2

Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy gene.

Melki J, Burlet P, Clermont O, Pascal F, Paul B, Abdelhak S, Sherrington R, Gurling H, Nakamura Y, Weissenbach J, et al. Melki J, et al. Among authors: abdelhak s. Genomics. 1993 Mar;15(3):521-4. doi: 10.1006/geno.1993.1103. Genomics. 1993. PMID: 8096827

3

Trinucleotide repeat polymorphism at the D5S556 locus.

Burlet P, Abdelhak S, Pascal F, Clermont O, Paul B, Munnich A, Melki J. Burlet P, et al. Among authors: abdelhak s. Hum Mol Genet. 1993 Aug;2(8):1328. doi: 10.1093/hmg/2.8.1328. Hum Mol Genet. 1993. PMID: 8401523 No abstract available.

4

Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome.

Kalatzis V, Abdelhak S, Compain S, Vincent C, Petit C. Kalatzis V, et al. Among authors: abdelhak s. Genomics. 1996 Jun 15;34(3):422-5. doi: 10.1006/geno.1996.0307. Genomics. 1996. PMID: 8786145

5

A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.

Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Weil D, Cruaud C, Sahly I, Leibovici M, Bitner-Glindzicz M, Francis M, Lacombe D, Vigneron J, Charachon R, Boven K, Bedbeder P, Van Regemorter N, Weissenbach J, Petit C. Abdelhak S, et al. Nat Genet. 1997 Feb;15(2):157-64. doi: 10.1038/ng0297-157. Nat Genet. 1997. PMID: 9020840

6

BOR and BO syndromes are allelic defects of EYA1.

Vincent C, Kalatzis V, Abdelhak S, Chaib H, Compain S, Helias J, Vaneecloo FM, Petit C. Vincent C, et al. Among authors: abdelhak s. Eur J Hum Genet. 1997 Jul-Aug;5(4):242-6. Eur J Hum Genet. 1997. PMID: 9359046

7

Molecular approach to the pathogenesis of renal anomalies in Kallmann's syndrome and in the branchio-oto-renal syndrome.

Hardelin JP, Soussi-Yanicostas N, Levilliers J, Kalatzis V, Abdelhak S, Cohen-Salmon M, Petit C. Hardelin JP, et al. Among authors: abdelhak s. Adv Nephrol Necker Hosp. 1998;28:419-28. Adv Nephrol Necker Hosp. 1998. PMID: 9890002 Review. No abstract available.

8

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations.

Bouchlaka C, Abdelhak S, Amouri A, Ben Abid H, Hadiji S, Frikha M, Ben Othman T, Amri F, Ayadi H, Hachicha M, Rebaï A, Saad A, Dellagi K; Tunisian Fanconi Anemia Study Group. Bouchlaka C, et al. Among authors: abdelhak s. J Hum Genet. 2003;48(7):352-61. doi: 10.1007/s10038-003-0037-z. Epub 2003 Jun 24. J Hum Genet. 2003. PMID: 12827451

9

Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia.

El Kares R, Barbouche MR, Elloumi-Zghal H, Bejaoui M, Chemli J, Mellouli F, Tebib N, Abdelmoula MS, Boukthir S, Fitouri Z, M'Rad S, Bouslama K, Touiri H, Abdelhak S, Dellagi MK. El Kares R, et al. Among authors: abdelhak s. J Hum Genet. 2006;51(10):887-895. doi: 10.1007/s10038-006-0039-8. Epub 2006 Aug 26. J Hum Genet. 2006. PMID: 16937026

10

Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

Riahi Z, Bonnet C, Zainine R, Louha M, Bouyacoub Y, Laroussi N, Chargui M, Kefi R, Jonard L, Dorboz I, Hardelin JP, Salah SB, Levilliers J, Weil D, McElreavey K, Boespflug OT, Besbes G, Abdelhak S, Petit C. Riahi Z, et al. Among authors: abdelhak s. PLoS One. 2014 Jun 13;9(6):e99797. doi: 10.1371/journal.pone.0099797. eCollection 2014. PLoS One. 2014. PMID: 24926664 Free PMC article.

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