Lyahyai J - Search Results

1

Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features.

Smaili W, Elalaoui SC, Zrhidri A, Raymond L, Egéa G, Taoudi M, Mouatassim SEL, Sefiani A, Lyahyai J. Smaili W, et al. Among authors: lyahyai j. Eur J Med Genet. 2020 Jul;63(7):103951. doi: 10.1016/j.ejmg.2020.103951. Epub 2020 May 18. Eur J Med Genet. 2020. PMID: 32439618

2

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: lyahyai j. 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

3

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: lyahyai j. 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

4

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: lyahyai j. Gene. 2017 Sep 10;628:190-193. doi: 10.1016/j.gene.2017.07.011. Epub 2017 Jul 8. Gene. 2017. PMID: 28694206 Review.

5

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.

Zrhidri A, Amasdl S, Lyahyai J, Elouardi H, Chkirate B, Raymond L, Egéa G, Taoudi M, El Mouatassim S, Sefiani A. Zrhidri A, et al. Among authors: lyahyai j. Pediatr Rheumatol Online J. 2017 Sep 26;15(1):72. doi: 10.1186/s12969-017-0200-2. Pediatr Rheumatol Online J. 2017. PMID: 28950892 Free PMC article.

6

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: lyahyai j. 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.

7

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: lyahyai j. 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.

8

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: lyahyai j. 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

9

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: lyahyai j. Afr Health Sci. 2014 Jun;14(2):468-71. doi: 10.4314/ahs.v14i2.25. Afr Health Sci. 2014. PMID: 25320599 Free PMC article.

10

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: lyahyai j. 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

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