Chafai Elalaoui S - Search Results

1

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E. Allach El Khattabi L, et al. Among authors: chafai elalaoui s. J Med Genet. 2020 May;57(5):301-307. doi: 10.1136/jmedgenet-2018-105389. Epub 2018 Oct 4. J Med Genet. 2020. PMID: 30287593

2

Hereditary persistence of fetal hemoglobin in two patients with KLF1 haploinsufficiency due to 19p13.2-p13.12/13 deletion.

Natiq A, Lysy PA, Gillemans N, Schaap R, Sefiani A, Amzazi S, Chafai El-Alaoui S, Cantú I, Banjanin B, van Lom K, Harteveld CL, Philipsen S. Natiq A, et al. Am J Hematol. 2017 Jan;92(1):E2-E3. doi: 10.1002/ajh.24574. Epub 2016 Nov 12. Am J Hematol. 2017. PMID: 27701781 Free article. No abstract available.

3

Autosomal dominant microtia.

Chafai Elalaoui S, Cherkaoui Jaouad I, Rifai L, Sefiani A. Chafai Elalaoui S, et al. Eur J Med Genet. 2010 Mar-Apr;53(2):100-3. doi: 10.1016/j.ejmg.2010.02.002. Epub 2010 Feb 10. Eur J Med Genet. 2010. PMID: 20152949

4

Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.

Cherkaoui Jaouad I, El Alloussi M, Chafai El Alaoui S, Laarabi FZ, Lyahyai J, Sefiani A. Cherkaoui Jaouad I, et al. BMC Oral Health. 2015 Jan 30;15:14. doi: 10.1186/1472-6831-15-14. BMC Oral Health. 2015. PMID: 25636655 Free PMC article.

5

Novel Mutation and Structural RNA Analysis of the Noncoding RNase MRP Gene in Cartilage-Hair Hypoplasia.

Cherkaoui Jaouad I, Laarabi FZ, Chafai Elalaoui S, Lyonnet S, Henrion-Caude A, Sefiani A. Cherkaoui Jaouad I, et al. Among authors: chafai elalaoui s. Mol Syndromol. 2015 Jul;6(2):77-82. doi: 10.1159/000430970. Epub 2015 Jun 11. Mol Syndromol. 2015. PMID: 26279652 Free PMC article.

6

A novel nonsense mutation in SCN9A in a Moroccan child with congenital insensitivity to pain.

Mansouri M, Chafai Elalaoui S, Ouled Amar Bencheikh B, El Alloussi M, Dion PA, Sefiani A, Rouleau GA. Mansouri M, et al. Among authors: chafai elalaoui s. Pediatr Neurol. 2014 Nov;51(5):741-4. doi: 10.1016/j.pediatrneurol.2014.06.009. Epub 2014 Jul 12. Pediatr Neurol. 2014. PMID: 25439579

7

AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.

Boualla L, Tajir M, Oulahiane N, Lyahyai J, Laarabi FZ, Chafai Elalaoui S, Soulami K, Ait Ouamar H, Sefiani A. Boualla L, et al. Among authors: chafai elalaoui s. Genet Test Mol Biomarkers. 2015 Nov;19(11):623-8. doi: 10.1089/gtmb.2015.0136. Epub 2015 Sep 18. Genet Test Mol Biomarkers. 2015. PMID: 26383609

8

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report.

Chafai-Elalaoui S, Chalon M, Elkhartoufi N, Kriouele Y, Mansouri M, Attié-Bitach T, Sefiani A, Baala L. Chafai-Elalaoui S, et al. J Med Case Rep. 2015 Nov 5;9:254. doi: 10.1186/s13256-015-0732-3. J Med Case Rep. 2015. PMID: 26541515 Free PMC article.

9

Identification of novel and de novo variant in the SCN1A gene confirms Dravet syndrome in Moroccan child: a case report.

El Mouhi H, Amllal N, Abbassi M, Nedbour A, Jalte M, Lyahyai J, Chafai Elalaoui S, Bouguenouch L, Chaouki S. El Mouhi H, et al. Among authors: chafai elalaoui s. Mol Biol Rep. 2024 Jan 28;51(1):233. doi: 10.1007/s11033-023-09200-y. Mol Biol Rep. 2024. PMID: 38282049

10

[Colonic duplication associated with a common mesenterium revealed by cecal volvulus in a young adult].

Alahyane A, Echarrab M, Lachkar A, Belmir H, El Fahssi M, Chafaï Elalaoui S, M'bida R, El Absi M, El Ounani M, El Alami El Faricha EH, Amraoui M, Errougani A, Jahid A, Chkoff MR. Alahyane A, et al. Among authors: chafai elalaoui s. Gastroenterol Clin Biol. 2009 Jun-Jul;33(6-7):499-501. doi: 10.1016/j.gcb.2009.02.043. Epub 2009 May 27. Gastroenterol Clin Biol. 2009. PMID: 19477613 Free article. French. No abstract available.

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