Sefiani A - Search Results

1

Germline mosaicism in Rubinstein-Taybi syndrome.

Tajir M, Fergelot P, Lancelot G, Elalaoui SC, Arveiler B, Lacombe D, Sefiani A. Tajir M, et al. Among authors: sefiani a. Gene. 2013 Apr 15;518(2):476-8. doi: 10.1016/j.gene.2012.12.105. Epub 2013 Jan 23. Gene. 2013. PMID: 23352794

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

A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature.

Ouboukss F, El Amrani Z, Bouchahta H, Ratbi I, Sbiti A, Liehr T, Sefiani A, Natiq A. Ouboukss F, et al. Among authors: sefiani a. Front Genet. 2024 Feb 23;15:1331676. doi: 10.3389/fgene.2024.1331676. eCollection 2024. Front Genet. 2024. PMID: 38463166 Free PMC article.

4

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

5

[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.

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

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

10

Non-association of Crohn's disease with NOD2 gene variants in Moroccan patients.

Hama I, Ratbi I, Reggoug S, Elkerch F, Kharrasse G, Errabih I, Ouazzani H, Sefiani A. Hama I, et al. Among authors: sefiani a. Gene. 2012 May 10;499(1):121-3. doi: 10.1016/j.gene.2011.12.045. Epub 2012 Jan 14. Gene. 2012. PMID: 22266421

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