Bizzari S - 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: bizzari s. J Neuromuscul Dis. 2022;9(1):193-210. doi: 10.3233/JND-210652. J Neuromuscul Dis. 2022. PMID: 34602496 Free PMC article.

2

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Bizzari S, Nair P, Deepthi A, Hana S, Al-Ali MT, Megarbané A, El-Hayek S. Bizzari S, et al. Genes (Basel). 2021 Sep 27;12(10):1518. doi: 10.3390/genes12101518. Genes (Basel). 2021. PMID: 34680914 Free PMC article. Review.

3

The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency.

Mansour H, Sabbagh S, Bizzari S, El-Hayek S, Chouery E, Gambarini A, Gencik M, Mégarbané A. Mansour H, et al. Among authors: bizzari s. J Pediatr Genet. 2019 Sep;8(3):172-178. doi: 10.1055/s-0039-1685172. Epub 2019 Apr 16. J Pediatr Genet. 2019. PMID: 31406627 Free PMC article.

4

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.

5

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. Among authors: bizzari s. 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

6

SOX11-related syndrome: report on a new case and review.

Wakim V, Nair P, Delague V, Bizzari S, Al-Ali MT, Castro C, Gambarini A, El-Hayek S, Megarbane A. Wakim V, et al. Among authors: bizzari s. Clin Dysmorphol. 2021 Jan;30(1):44-49. doi: 10.1097/MCD.0000000000000348. Clin Dysmorphol. 2021. PMID: 33086258 Review. No abstract available.

7

Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation.

Nair P, Sabbagh S, Bizzari S, Brunner F, Stora S, Al-Ali MT, Gencik M, El-Hayek S, Mégarbané A. Nair P, et al. Among authors: bizzari s. Mol Syndromol. 2019 Jul;10(4):219-222. doi: 10.1159/000501114. Epub 2019 Jun 28. Mol Syndromol. 2019. PMID: 31602195 Free PMC article.

8

Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.

Bizzari S, El-Bazzal L, Nair P, Younan A, Stora S, Mehawej C, El-Hayek S, Delague V, Mégarbané A. Bizzari S, et al. Eur J Med Genet. 2020 May;63(5):103869. doi: 10.1016/j.ejmg.2020.103869. Epub 2020 Jan 30. Eur J Med Genet. 2020. PMID: 32006683 Review.

9

Expanded PCH1D phenotype linked to EXOSC9 mutation.

Bizzari S, Hamzeh AR, Mohamed M, Al-Ali MT, Bastaki F. Bizzari S, et al. 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

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. Among authors: bizzari s. J Transl Med. 2016 Apr 20;14:96. doi: 10.1186/s12967-016-0854-4. J Transl Med. 2016. PMID: 27095177 Free PMC article.

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