Gribaa M - Search Results

1

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.

2

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.

3

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

4

Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder.

Fernet M, Gribaa M, Salih MA, Seidahmed MZ, Hall J, Koenig M. Fernet M, et al. Among authors: gribaa m. Hum Mol Genet. 2005 Jan 15;14(2):307-18. doi: 10.1093/hmg/ddi027. Epub 2004 Dec 1. Hum Mol Genet. 2005. PMID: 15574463

5

A new form of childhood onset, autosomal recessive spinocerebellar ataxia and epilepsy is localized at 16q21-q23.

Gribaa M, Salih M, Anheim M, Lagier-Tourenne C, H'mida D, Drouot N, Mohamed A, Elmalik S, Kabiraj M, Al-Rayess M, Almubarak M, Bétard C, Goebel H, Koenig M. Gribaa M, et al. Brain. 2007 Jul;130(Pt 7):1921-8. doi: 10.1093/brain/awm078. Epub 2007 Apr 30. Brain. 2007. PMID: 17470496

6

Placental mesenchymal dysplasia with beckwith-wiedemann syndrome fetus in the context of biparental and androgenic cell lines.

H'mida D, Gribaa M, Yacoubi T, Chaieb A, Adala L, Elghezal H, Saad A. H'mida D, et al. Among authors: gribaa m. Placenta. 2008 May;29(5):454-60. doi: 10.1016/j.placenta.2008.01.001. Epub 2008 Mar 17. Placenta. 2008. PMID: 18342934

7

Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia.

Ben-Abdallah-Bouhjar I, Hannachi H, Labalme A, Gmidène A, Mougou S, Soyah N, Gribaa M, Sanlaville D, Elghezal H, Saad A. Ben-Abdallah-Bouhjar I, et al. Among authors: gribaa m. Eur J Med Genet. 2012 Aug-Sep;55(8-9):461-5. doi: 10.1016/j.ejmg.2012.04.011. Epub 2012 Jun 7. Eur J Med Genet. 2012. PMID: 22683462

8

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

9

Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients.

Amara A, Adala L, Ben Charfeddine I, Mamaï O, Mili A, Lazreg TB, H'mida D, Amri F, Salem N, Boughammura L, Saad A, Gribaa M. Amara A, et al. Among authors: gribaa m. Eur J Paediatr Neurol. 2012 Mar;16(2):167-74. doi: 10.1016/j.ejpn.2011.07.007. Epub 2011 Aug 6. Eur J Paediatr Neurol. 2012. PMID: 21821450

10

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.

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