Doubaj Y - Search Results

1

A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.

Doubaj Y, Smaili W, Laarabi FZ, Sefiani A. Doubaj Y, et al. J Med Case Rep. 2017 Jun 15;11(1):158. doi: 10.1186/s13256-017-1311-6. J Med Case Rep. 2017. PMID: 28615033 Free PMC article.

2

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. 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

3

High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast-ovarian cancer prevention and control.

Laarabi FZ, Ratbi I, Elalaoui SC, Mezzouar L, Doubaj Y, Bouguenouch L, Ouldim K, Benjaafar N, Sefiani A. Laarabi FZ, et al. Among authors: doubaj y. BMC Res Notes. 2017 Jun 2;10(1):188. doi: 10.1186/s13104-017-2511-2. BMC Res Notes. 2017. PMID: 28577564 Free PMC article.

4

CALR gene mutational profile in myeloproliferative neoplasms with non-mutated JAK2 in Moroccan patients: A case series and germline in-frame deletion.

Smaili W, Doubaj Y, Laarabi FZ, Lyahyai J, Kerbout M, Mikdame M, Sefiani A. Smaili W, et al. Among authors: doubaj y. Curr Res Transl Med. 2017 Jan-Mar;65(1):15-19. doi: 10.1016/j.retram.2016.08.002. Epub 2016 Nov 3. Curr Res Transl Med. 2017. PMID: 28340692

5

An inherited LMNA gene mutation in atypical Progeria syndrome.

Doubaj Y, De Sandre-Giovannoli A, Vera EV, Navarro CL, Elalaoui SC, Tajir M, Lévy N, Sefiani A. Doubaj Y, et al. Am J Med Genet A. 2012 Nov;158A(11):2881-7. doi: 10.1002/ajmg.a.35557. Epub 2012 Sep 18. Am J Med Genet A. 2012. PMID: 22991222

6

A novel mutation in the endothelin B receptor gene in a moroccan family with shah-waardenburg syndrome.

Doubaj Y, Pingault V, Elalaoui SC, Ratbi I, Azouz M, Zerhouni H, Ettayebi F, Sefiani A. Doubaj Y, et al. Mol Syndromol. 2015 Feb;6(1):44-9. doi: 10.1159/000371590. Epub 2015 Jan 28. Mol Syndromol. 2015. PMID: 25852447 Free PMC article.

7

Novel splice site mutation in CNNM4 gene in a family with Jalili syndrome.

Cherkaoui Jaouad I, Lyahyai J, Guaoua S, El Alloussi M, Zrhidri A, Doubaj Y, Boulanouar A, Sefiani A. Cherkaoui Jaouad I, et al. Among authors: doubaj y. Eur J Med Genet. 2017 May;60(5):239-244. doi: 10.1016/j.ejmg.2017.02.004. Epub 2017 Feb 27. Eur J Med Genet. 2017. PMID: 28246031

8

Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia.

Doubaj Y, Zrhidri A, Elalaoui SC, Lyahyai J, El Kadiri Y, Elkassimi N, Sbiti A, El Kababri M, Hessissen L, Sefiani A. Doubaj Y, et al. Pan Afr Med J. 2021 May 26;39:72. doi: 10.11604/pamj.2021.39.72.27220. eCollection 2021. Pan Afr Med J. 2021. PMID: 34422195 Free PMC article.

9

Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.

Elalaoui SC, Laarabi FZ, Afif L, Lyahyai J, Ratbi I, Jaouad IC, Doubaj Y, Sahli M, Ouhenach M, Sefiani A. Elalaoui SC, et al. Among authors: doubaj y. Breast Cancer Res Treat. 2022 Jul;194(1):187-198. doi: 10.1007/s10549-022-06622-3. Epub 2022 May 17. Breast Cancer Res Treat. 2022. PMID: 35578052

10

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

Legendre M, Rodriguez-Ballesteros M, Rossi M, Abadie V, Amiel J, Revencu N, Blanchet P, Brioude F, Delrue MA, Doubaj Y, Sefiani A, Francannet C, Holder-Espinasse M, Jouk PS, Julia S, Melki J, Mur S, Naudion S, Fabre-Teste J, Busa T, Stamm S, Lyonnet S, Attie-Bitach T, Kitzis A, Gilbert-Dussardier B, Bilan F. Legendre M, et al. Among authors: doubaj y. Eur J Hum Genet. 2018 Feb;26(2):287-292. doi: 10.1038/s41431-017-0007-0. Epub 2017 Dec 18. Eur J Hum Genet. 2018. PMID: 29255276 Free PMC article.

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