Sefiani A - Search Results

1

Mowat-Wilson syndrome in a Moroccan consanguineous family.

Ratbi I, Elalaoui CS, Dastot-Le MF, Goossens M, Giurgea I, Sefiani A. Ratbi I, et al. Among authors: sefiani a. Indian J Hum Genet. 2007 Sep;13(3):122-4. doi: 10.4103/0971-6866.38988. Indian J Hum Genet. 2007. PMID: 21957361 Free PMC article.

2

[The mutation 35delG of the gene of the connexin 26 is a frequent cause of autosomal-recessive non-syndromic hearing loss in Morocco].

Ratbi I, Hajji S, Ouldim K, Aboussair N, Feldmann D, Sefiani A. Ratbi I, et al. Among authors: sefiani a. Arch Pediatr. 2007 May;14(5):450-3. doi: 10.1016/j.arcped.2006.12.004. Epub 2007 Jan 16. Arch Pediatr. 2007. PMID: 17229560 French.

3

Cystic fibrosis carrier frequency and estimated prevalence of the disease in Morocco.

Ratbi I, Génin E, Legendre M, Le Floch A, Costa C, Cherkaoui-Deqqaqi S, Goossens M, Sefiani A, Girodon E. Ratbi I, et al. Among authors: sefiani a. J Cyst Fibros. 2008 Sep;7(5):440-3. doi: 10.1016/j.jcf.2007.12.006. Epub 2008 Feb 1. J Cyst Fibros. 2008. PMID: 18243066 Free article.

4

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.

Ratbi I, Bocciardi R, Regragui A, Ravazzolo R, Sefiani A. Ratbi I, et al. Among authors: sefiani a. Clin Rheumatol. 2010 Jan;29(1):119-21. doi: 10.1007/s10067-009-1283-z. Epub 2009 Oct 1. Clin Rheumatol. 2010. PMID: 19795179

5

The Moroccan human mutation database.

Ratbi I, Gati AE, Sefiani A. Ratbi I, et al. Among authors: sefiani a. Indian J Hum Genet. 2008 Sep;14(3):106-7. doi: 10.4103/0971-6866.45004. Indian J Hum Genet. 2008. PMID: 20300306 Free PMC article. No abstract available.

6

Severe form of hypoglossia-hypodactylia syndrome associated with complex cardiopathy: a case report.

Elalaoui SC, Ratbi I, Malih M, Bounasse M, Sefiani A. Elalaoui SC, et al. Among authors: sefiani a. Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1092-4. doi: 10.1016/j.ijporl.2010.06.011. Epub 2010 Jul 15. Int J Pediatr Otorhinolaryngol. 2010. PMID: 20637513

7

Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.

Elalaoui SC, Kraoua L, Liger C, Ratbi I, Cavé H, Sefiani A. Elalaoui SC, et al. Among authors: sefiani a. Am J Med Genet A. 2010 Nov;152A(11):2850-3. doi: 10.1002/ajmg.a.33685. Am J Med Genet A. 2010. PMID: 20979190

8

Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome.

Ratbi I, Elalaoui SC, Moizard MP, Raynaud M, Sefiani A. Ratbi I, et al. Among authors: sefiani a. Turk J Pediatr. 2010 Sep-Oct;52(5):525-8. Turk J Pediatr. 2010. PMID: 21434539

9

Spinal muscular atrophy carrier frequency and estimated prevalence of the disease in Moroccan newborns.

Lyahyai J, Sbiti A, Barkat A, Ratbi I, Sefiani A. Lyahyai J, et al. Among authors: sefiani a. Genet Test Mol Biomarkers. 2012 Mar;16(3):215-8. doi: 10.1089/gtmb.2011.0149. Epub 2011 Sep 27. Genet Test Mol Biomarkers. 2012. PMID: 21950724

10

[Spinal muscular atrophy: frequent cause of congenital hypotonia in Morocco].

Sbiti A, Ratbi I, Kriouile Y, Sefiani A. Sbiti A, et al. Among authors: sefiani a. Arch Pediatr. 2011 Dec;18(12):1261-4. doi: 10.1016/j.arcped.2011.09.025. Epub 2011 Oct 29. Arch Pediatr. 2011. PMID: 22041598 French.

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