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Page 1
Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma.
Pohler E, Mamai O, Hirst J, Zamiri M, Horn H, Nomura T, Irvine AD, Moran B, Wilson NJ, Smith FJ, Goh CS, Sandilands A, Cole C, Barton GJ, Evans AT, Shimizu H, Akiyama M, Suehiro M, Konohana I, Shboul M, Teissier S, Boussofara L, Denguezli M, Saad A, Gribaa M, Dopping-Hepenstal PJ, McGrath JA, Brown SJ, Goudie DR, Reversade B, Munro CS, McLean WH. Pohler E, et al. Among authors: gribaa m. Nat Genet. 2012 Nov;44(11):1272-6. doi: 10.1038/ng.2444. Epub 2012 Oct 14. Nat Genet. 2012. PMID: 23064416 Free PMC article.
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Rjiba K, Mougou-Zerelli S, Hamida IH, Saad G, Khadija B, Jelloul A, Slimani W, Hasni Y, Dimassi S, Khelifa HB, Sallem A, Kammoun M, Abdallah HH, Gribaa M, Bignon-Topalovic J, Chelly S, Khairi H, Bibi M, Kacem M, Saad A, Bashamboo A, McElreavey K. Rjiba K, et al. Among authors: gribaa m. Reprod Biol Endocrinol. 2023 Jan 11;21(1):2. doi: 10.1186/s12958-022-01045-7. Reprod Biol Endocrinol. 2023. PMID: 36631813 Free PMC article.
Genome Tunisia Project: paving the way for precision medicine in North Africa.
Hamdi Y, Trabelsi M, Ghedira K, Boujemaa M, Ben Ayed I, Charfeddine C, Souissi A, Rejeb I, Kammoun Rebai W, Hkimi C, Neifar F, Jandoubi N, Mkaouar R, Chaouch M, Bennour A, Kamoun S, Chaker Masmoudi H, Abid N, Mezghani Khemakhem M; GTCA Consortium; Masmoudi S, Saad A, BenJemaa L, BenKahla A, Boubaker S, Mrad R, Kamoun H, Abdelhak S, Gribaa M, Belguith N, Kharrat N, Hmida D, Rebai A. Hamdi Y, et al. Among authors: gribaa m. Genome Med. 2024 Aug 27;16(1):104. doi: 10.1186/s13073-024-01365-w. Genome Med. 2024. PMID: 39187811 Free PMC article.
Reduction of palmoplantar keratoderma Buschke-Fischer-Brauer locus to only 0.967 Mb.
Mamaï O, Boussofara L, Adala L, Amara A, Ben Charfeddine I, Ghariani N, Sriha B, Denguezli M, Mili A, Belazreg T, Saad A, Gribaa M. Mamaï O, et al. Among authors: gribaa m. J Dermatol Sci. 2012 Sep;67(3):210-2. doi: 10.1016/j.jdermsci.2012.06.011. Epub 2012 Jul 6. J Dermatol Sci. 2012. PMID: 22789686 No abstract available.
Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.
Mamaï O, Boussofara L, Denguezli M, Escande-Beillard N, Kraeim W, Merriman B, Ben Charfeddine I, Stevanin G, Bouraoui S, Amara A, Mili A, Nouira R, H'mida D, Sriha B, Gribaa M, Saad A, Reversade B. Mamaï O, et al. Among authors: gribaa m. J Invest Dermatol. 2015 Jan;135(1):304-308. doi: 10.1038/jid.2014.311. Epub 2014 Jul 22. J Invest Dermatol. 2015. PMID: 25050600 Free PMC article. No abstract available.
Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.
Ghédir H, Gribaa M, Mamaî O, Ben Charfeddine I, Braham A, Amara A, Mehdi M, Saad A, Ibala-Romdhane S. Ghédir H, et al. Among authors: gribaa m. J Assist Reprod Genet. 2015 Nov;32(11):1651-8. doi: 10.1007/s10815-015-0565-4. Epub 2015 Sep 4. J Assist Reprod Genet. 2015. PMID: 26341096 Free PMC article.
Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation.
Zhong FL, Mamaï O, Sborgi L, Boussofara L, Hopkins R, Robinson K, Szeverényi I, Takeichi T, Balaji R, Lau A, Tye H, Roy K, Bonnard C, Ahl PJ, Jones LA, Baker PJ, Lacina L, Otsuka A, Fournie PR, Malecaze F, Lane EB, Akiyama M, Kabashima K, Connolly JE, Masters SL, Soler VJ, Omar SS, McGrath JA, Nedelcu R, Gribaa M, Denguezli M, Saad A, Hiller S, Reversade B. Zhong FL, et al. Among authors: gribaa m. Cell. 2016 Sep 22;167(1):187-202.e17. doi: 10.1016/j.cell.2016.09.001. Cell. 2016. PMID: 27662089 Free article.
62 results