Abdelhak S - Search Results

1

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

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

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

4

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

5

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

6

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.

7

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.

8

Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.

Riahi Z, Bonnet C, Zainine R, Lahbib S, Bouyacoub Y, Bechraoui R, Marrakchi J, Hardelin JP, Louha M, Largueche L, Ben Yahia S, Kheirallah M, Elmatri L, Besbes G, Abdelhak S, Petit C. Riahi Z, et al. Among authors: abdelhak s. PLoS One. 2015 Mar 23;10(3):e0120584. doi: 10.1371/journal.pone.0120584. eCollection 2015. PLoS One. 2015. PMID: 25798947 Free PMC article.

9

Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity.

Ben Halim N, Nagara M, Regnault B, Hsouna S, Lasram K, Kefi R, Azaiez H, Khemira L, Saidane R, Ammar SB, Besbes G, Weil D, Petit C, Abdelhak S, Romdhane L. Ben Halim N, et al. Among authors: abdelhak s. Ann Hum Genet. 2015 Nov;79(6):402-17. doi: 10.1111/ahg.12131. Epub 2015 Sep 29. Ann Hum Genet. 2015. PMID: 26420437

10

A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.

Sayeb M, Riahi Z, Laroussi N, Bonnet C, Romdhane L, Mkaouar R, Zaouak A, Marrakchi J, Abdessalem G, Messaoud O, Bouchniba O, Ghilane N, Mokni M, Besbes G, Yacoub-Youssef H, Petit C, Abdelhak S. Sayeb M, et al. Among authors: abdelhak s. Int J Dermatol. 2019 Dec;58(12):1439-1443. doi: 10.1111/ijd.14452. Epub 2019 Apr 25. Int J Dermatol. 2019. PMID: 31020658

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