Mansouri M - Search Results

1

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. 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

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. 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

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. Among authors: mansouri m. 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.

4

Further evidence of POP1 mutations as the cause of anauxetic dysplasia.

Elalaoui SC, Laarabi FZ, Mansouri M, Mrani NA, Nishimura G, Sefiani A. Elalaoui SC, et al. Among authors: mansouri m. Am J Med Genet A. 2016 Sep;170(9):2462-5. doi: 10.1002/ajmg.a.37839. Epub 2016 Jul 6. Am J Med Genet A. 2016. PMID: 27380734

5

Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.

Lahrouchi N, Lodder EM, Mansouri M, Tadros R, Zniber L, Adadi N, Clur SB, van Spaendonck-Zwarts KY, Postma AV, Sefiani A, Ratbi I, Bezzina CR. Lahrouchi N, et al. Among authors: mansouri m. Eur J Hum Genet. 2017 Jun;25(6):783-787. doi: 10.1038/ejhg.2017.22. Epub 2017 Mar 15. Eur J Hum Genet. 2017. PMID: 28295041 Free PMC article.

6

Associations between clinical characteristics and angiotensin-converting enzyme gene insertion/deletion polymorphism in Moroccan population with Type-2 diabetic nephropathy.

Mansouri M, Zniber A, Boualla L, El Badaoui G, Benkacem M, Rifai K, Chraibi A, Benamar L, Sefiani A, Bayahia R. Mansouri M, et al. Saudi J Kidney Dis Transpl. 2017 Mar-Apr;28(2):261-267. doi: 10.4103/1319-2442.202792. Saudi J Kidney Dis Transpl. 2017. PMID: 28352005

7

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Lyahyai J, Ouled Amar Bencheikh B, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A. Lyahyai J, et al. Among authors: mansouri m. BMC Pediatr. 2018 Feb 27;18(1):90. doi: 10.1186/s12887-018-1063-5. BMC Pediatr. 2018. PMID: 29486744 Free PMC article.

8

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Lyahyai J, Bencheikh BOA, Elalaoui SC, Mansouri M, Boualla L, DIonne-Laporte A, Spiegelman D, Dion PA, Cossette P, Rouleau GA, Sefiani A. Lyahyai J, et al. Among authors: mansouri m. BMC Pediatr. 2018 Apr 17;18(1):138. doi: 10.1186/s12887-018-1114-y. BMC Pediatr. 2018. PMID: 29665810 Free PMC article.

9

Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family (case report).

Bouzid FZ, Mansouri M, Abdelaziz C, Louhab N, Bernard S, Strubi-Vuillaume I, Dafir K, Aboussair N. Bouzid FZ, et al. Among authors: mansouri m. Pan Afr Med J. 2021 Feb 12;38:162. doi: 10.11604/pamj.2021.38.162.27262. eCollection 2021. Pan Afr Med J. 2021. PMID: 33995769 Free PMC article.

10

1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization.

Dafir K, Bouzid FZ, Mansouri M, Aboussair N. Dafir K, et al. Among authors: mansouri m. Pan Afr Med J. 2020 Dec 16;37:349. doi: 10.11604/pamj.2020.37.349.26166. eCollection 2020. Pan Afr Med J. 2020. PMID: 33738037 Free PMC article.

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