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Distinguishing the four genetic causes of Jouberts syndrome-related disorders.
Valente EM, Marsh SE, Castori M, Dixon-Salazar T, Bertini E, Al-Gazali L, Messer J, Barbot C, Woods CG, Boltshauser E, Al-Tawari AA, Salpietro CD, Kayserili H, Sztriha L, Gribaa M, Koenig M, Dallapiccola B, Gleeson JG. Valente EM, et al. Among authors: gribaa m. Ann Neurol. 2005 Apr;57(4):513-9. doi: 10.1002/ana.20422. Ann Neurol. 2005. PMID: 15786477 Free article.
Homozygosity mapping of a third Joubert syndrome locus to 6q23.
Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Bétard C, Barbot C, Koenig M. Lagier-Tourenne C, et al. Among authors: gribaa m. J Med Genet. 2004 Apr;41(4):273-7. doi: 10.1136/jmg.2003.014787. J Med Genet. 2004. PMID: 15060101 Free PMC article.
Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.
Lagier-Tourenne C, Tranebaerg L, Chaigne D, Gribaa M, Dollfus H, Silvestri G, Bétard C, Warter JM, Koenig M. Lagier-Tourenne C, et al. Among authors: gribaa m. Eur J Hum Genet. 2003 Oct;11(10):770-8. doi: 10.1038/sj.ejhg.5201068. Eur J Hum Genet. 2003. PMID: 14512967
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
Jellouli NK, Hadj Salem I, Ellouz E, Kamoun Z, kamoun F, tlili A, Kaabachi N, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation study. Jellouli NK, et al. J Hum Genet. 2014 Apr;59(4):216-22. doi: 10.1038/jhg.2014.4. Epub 2014 Feb 27. J Hum Genet. 2014. PMID: 24573090
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.
58 results