Sefiani A - Search Results

1

Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.

Haskamp S, Bruns H, Hahn M, Hoffmann M, Gregor A, Löhr S, Hahn J, Schauer C, Ringer M, Flamann C, Frey B, Lesner A, Thiel CT, Ekici AB, von Hörsten S, Aßmann G, Riepe C, Euler M, Schäkel K, Philipp S, Prinz JC, Mößner R, Kersting F, Sticherling M, Sefiani A, Lyahyai J, Sondermann W, Oji V, Schulz P, Wilsmann-Theis D, Sticht H, Schett G, Reis A, Uebe S, Frey S, Hüffmeier U. Haskamp S, et al. Among authors: sefiani a. Am J Hum Genet. 2020 Sep 3;107(3):527-538. doi: 10.1016/j.ajhg.2020.07.001. Epub 2020 Aug 5. Am J Hum Genet. 2020. PMID: 32758447 Free PMC article.

2

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

3

Novel nonsense mutation of BRCA2 gene in a Moroccan man with familial breast cancer.

Guaoua S, Ratbi I, Lyahyai J, El Alaoui SC, Laarabi FZ, Sefiani A. Guaoua S, et al. Among authors: sefiani a. Afr Health Sci. 2014 Jun;14(2):468-71. doi: 10.4314/ahs.v14i2.25. Afr Health Sci. 2014. PMID: 25320599 Free PMC article.

4

Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

Mansouri M, Kayserili H, Elalaoui SC, Nishimura G, Iida A, Lyahyai J, Miyake N, Matsumoto N, Sefiani A, Ikegawa S. Mansouri M, et al. Among authors: sefiani a. Am J Med Genet A. 2016 Feb;170A(2):460-465. doi: 10.1002/ajmg.a.37426. Epub 2015 Oct 13. Am J Med Genet A. 2016. PMID: 26463668

5

Severe early onset retinitis pigmentosa in a Moroccan patient with Heimler syndrome due to novel homozygous mutation of PEX1 gene.

Ratbi I, Jaouad IC, Elorch H, Al-Sheqaih N, Elalloussi M, Lyahyai J, Berraho A, Newman WG, Sefiani A. Ratbi I, et al. Among authors: sefiani a. Eur J Med Genet. 2016 Oct;59(10):507-11. doi: 10.1016/j.ejmg.2016.09.004. Epub 2016 Sep 12. Eur J Med Genet. 2016. PMID: 27633571

6

Non lethal Raine syndrome and differential diagnosis.

Elalaoui SC, Al-Sheqaih N, Ratbi I, Urquhart JE, O'Sullivan J, Bhaskar S, Williams SS, Elalloussi M, Lyahyai J, Sbihi L, Cherkaoui Jaouad I, Sbihi A, Newman WG, Sefiani A. Elalaoui SC, et al. Among authors: sefiani a. Eur J Med Genet. 2016 Nov;59(11):577-583. doi: 10.1016/j.ejmg.2016.09.018. Epub 2016 Sep 22. Eur J Med Genet. 2016. PMID: 27667191

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: sefiani a. 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

Identification of two novel SH3PXD2B gene mutations in Frank-Ter Haar syndrome by exome sequencing: Case report and review of the literature.

Zrhidri A, Jaouad IC, Lyahyai J, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A. Zrhidri A, et al. Among authors: sefiani a. Gene. 2017 Sep 10;628:190-193. doi: 10.1016/j.gene.2017.07.011. Epub 2017 Jul 8. Gene. 2017. PMID: 28694206 Review.

9

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.

Cherkaoui Jaouad I, Zrhidri A, Jdioui W, Lyahyai J, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A. Cherkaoui Jaouad I, et al. Among authors: sefiani a. BMC Med Genet. 2018 Jul 18;19(1):118. doi: 10.1186/s12881-018-0625-6. BMC Med Genet. 2018. PMID: 30021525 Free PMC article.

10

Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series.

Sahli M, Zrhidri A, Elaloui SC, Smaili W, Lyahyai J, Oudghiri FZ, Sefiani A. Sahli M, et al. Among authors: sefiani a. J Med Case Rep. 2019 Aug 23;13(1):266. doi: 10.1186/s13256-019-2203-8. J Med Case Rep. 2019. PMID: 31439038 Free PMC article.

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