Sefiani A - Search Results

1

Tajir M, Fergelot P, Lancelot G, Arveiler B, Elalaoui SC, Lacombe D, Sefiani A. Tajir M, et al. Among authors: sefiani a. Pan Afr Med J. 2012;12:64. Epub 2012 Jul 4. Pan Afr Med J. 2012. PMID: 23024823 Free PMC article. French.

2

Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants.

Rahmuni Y, Kadiri YE, Lyahyai J, Sefiani A, Ratbi I. Rahmuni Y, et al. Among authors: sefiani a. Ir J Med Sci. 2024 Dec;193(6):3071-3076. doi: 10.1007/s11845-024-03792-5. Epub 2024 Aug 23. Ir J Med Sci. 2024. PMID: 39174842

3

Consanguineous marriages in Morocco and the consequence for the incidence of autosomal recessive disorders.

Jaouad IC, Elalaoui SC, Sbiti A, Elkerh F, Belmahi L, Sefiani A. Jaouad IC, et al. Among authors: sefiani a. J Biosoc Sci. 2009 Sep;41(5):575-81. doi: 10.1017/S0021932009003393. Epub 2009 May 12. J Biosoc Sci. 2009. PMID: 19433002

4

[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation].

Aboussair N, Berahou A, Perrault I, Elalaoui SC, Megzari A, Rozet JM, Kaplan J, Sefiani A. Aboussair N, et al. Among authors: sefiani a. J Fr Ophtalmol. 2010 Feb;33(2):117.e1-5. doi: 10.1016/j.jfo.2009.11.009. Epub 2010 Jan 6. J Fr Ophtalmol. 2010. PMID: 20056295 French.

5

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

6

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

7

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

8

Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.

Doubaj Y, Laarabi FZ, Elalaoui SC, Barkat A, Sefiani A. Doubaj Y, et al. Among authors: sefiani a. J Dermatol. 2012 Apr;39(4):382-4. doi: 10.1111/j.1346-8138.2011.01453.x. Epub 2011 Dec 29. J Dermatol. 2012. PMID: 22211393

9

Moroccan consanguineous family with Becker myotonia and review.

Ratbi I, Elalaoui SC, Escudero A, Kriouile Y, Molano J, Sefiani A. Ratbi I, et al. Among authors: sefiani a. Ann Indian Acad Neurol. 2011 Oct;14(4):307-9. doi: 10.4103/0972-2327.91963. Ann Indian Acad Neurol. 2011. PMID: 22346025 Free PMC article.

10

Frequency of IL28B rs12979860 single-nucleotide polymorphism alleles in newborn infants and in patients with chronic hepatitis C in Morocco.

Tajir M, Elmachad M, Kabbaj N, Laarabi FZ, Barkat A, Amrani N, Sefiani A. Tajir M, et al. Among authors: sefiani a. Genet Test Mol Biomarkers. 2012 Aug;16(8):981-3. doi: 10.1089/gtmb.2011.0353. Epub 2012 Apr 17. Genet Test Mol Biomarkers. 2012. PMID: 22509814

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