Al-Ali MT - Search Results

1

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

Megarbane A, Bizzari S, Deepthi A, Sabbagh S, Mansour H, Chouery E, Hmaimess G, Jabbour R, Mehawej C, Alame S, Hani A, Hasbini D, Ghanem I, Koussa S, Al-Ali MT, Obeid M, Talea DB, Lefranc G, Lévy N, Leturcq F, El Hayek S, Delague V, Urtizberea JA. Megarbane A, et al. Among authors: al ali mt. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.

2

Genetics of multifactorial disorders: proceedings of the 6th Pan Arab Human Genetics Conference.

Nair P, Bizzari S, Rajah N, Assaf N, Al-Ali MT, Hamzeh AR. Nair P, et al. J Transl Med. 2016 Apr 20;14:96. doi: 10.1186/s12967-016-0854-4. J Transl Med. 2016. PMID: 27095177 Free PMC article.

3

Meta-analyses of the association of HLA-DRB1 alleles with rheumatoid arthritis among Arabs.

Bizzari S, Nair P, Al Ali MT, Hamzeh AR. Bizzari S, et al. Int J Rheum Dis. 2017 Jul;20(7):832-838. doi: 10.1111/1756-185X.12922. Epub 2016 Jul 14. Int J Rheum Dis. 2017. PMID: 27412376 Review.

4

Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.

Bastaki F, Mohamed M, Nair P, Saif F, Mustafa EM, Bizzari S, Al-Ali MT, Hamzeh AR. Bastaki F, et al. Int J Dermatol. 2017 May;56(5):514-523. doi: 10.1111/ijd.13568. Epub 2017 Feb 24. Int J Dermatol. 2017. PMID: 28236338

5

Novel SPG20 mutation in an extended family with Troyer syndrome.

Bizzari S, Hamzeh AR, Nair P, Mohamed M, Saif F, Aithala G, Al-Ali MT, Bastaki F. Bizzari S, et al. Metab Brain Dis. 2017 Dec;32(6):2155-2159. doi: 10.1007/s11011-017-0104-3. Epub 2017 Sep 5. Metab Brain Dis. 2017. PMID: 28875386

6

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Bastaki F, Bizzari S, Hamici S, Nair P, Mohamed M, Saif F, Malik EM, Al-Ali MT, Hamzeh AR. Bastaki F, et al. Ann Hum Genet. 2018 Jan;82(1):35-47. doi: 10.1111/ahg.12220. Epub 2017 Sep 21. Ann Hum Genet. 2018. PMID: 28940310

7

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Nair P, Sabbagh S, Mansour H, Fawaz A, Hmaimess G, Noun P, Dagher R, Megarbane H, Hana S, Alame S, Lamaa M, Hasbini D, Farah R, Rajab M, Stora S, El-Tourjuman O, Abou Jaoude P, Chalouhi G, Sayad R, Gillart AC, Al-Ali M, Delague V, El-Hayek S, Mégarbané A. Nair P, et al. Mol Genet Genomic Med. 2018 Nov;6(6):1041-1052. doi: 10.1002/mgg3.480. Epub 2018 Oct 7. Mol Genet Genomic Med. 2018. PMID: 30293248 Free PMC article.

8

A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22).

Mégarbané A, Hmaimess G, Bizzari S, El-Bazzal L, Al-Ali MT, Stora S, Delague V, El-Hayek S. Mégarbané A, et al. Eur J Med Genet. 2019 Nov;62(11):103576. doi: 10.1016/j.ejmg.2018.11.010. Epub 2018 Nov 10. Eur J Med Genet. 2019. PMID: 30423442

9

Expanded PCH1D phenotype linked to EXOSC9 mutation.

Bizzari S, Hamzeh AR, Mohamed M, Al-Ali MT, Bastaki F. Bizzari S, et al. Among authors: al ali mt. Eur J Med Genet. 2020 Jan;63(1):103622. doi: 10.1016/j.ejmg.2019.01.012. Epub 2019 Jan 25. Eur J Med Genet. 2020. PMID: 30690203

10

COQ8A and MED25 Mutations in a Child with Intellectual Disability, Microcephaly, Seizures, and Spastic Ataxia: Synergistic Effect of Digenic Variants?

Nair P, Lama M, El-Hayek S, Abou Sleymane G, Stora S, Obeid M, Al-Ali MT, Delague V, Mégarbané A. Nair P, et al. Among authors: al ali mt. Mol Syndromol. 2019 Jan;9(6):319-323. doi: 10.1159/000494465. Epub 2018 Nov 9. Mol Syndromol. 2019. PMID: 30800049 Free PMC article.

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