El-Hayek S - Search Results

1

Homozygous deletion of exons 2-7 within TGFB3 gene in a child with severe Loeys-Dietz syndrome and Marfan-like features.

Mégarbané A, Deepthi A, Obeid M, T Al-Ali M, Gambarini A, El-Hayek S. Mégarbané A, et al. Am J Med Genet A. 2020 May;182(5):1230-1235. doi: 10.1002/ajmg.a.61508. Epub 2020 Feb 5. Am J Med Genet A. 2020. PMID: 32022420

2

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. 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.

3

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.

Nair P, El-Bazzal L, Mansour H, Sabbagh S, Al-Ali MT, Gambarini A, Delague V, El-Hayek S, Mégarbané A. Nair P, et al. J Pediatr Genet. 2019 Dec;8(4):252-256. doi: 10.1055/s-0039-1693664. Epub 2019 Jul 30. J Pediatr Genet. 2019. PMID: 31687267 Free PMC article.

4

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.

5

Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome.

Mégarbané A, Hana S, El-Hayek S, Gambarini A, Al-Ali MT, Delague V. Mégarbané A, et al. Am J Med Genet A. 2020 Aug;182(8):1865-1872. doi: 10.1002/ajmg.a.61730. Epub 2020 Jul 2. Am J Med Genet A. 2020. PMID: 32618096

6

Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes.

Farah RA, Nair P, Koueik J, Yammine T, Khalifeh H, Korban R, Collet A, Khayat C, Dubois-Denghien C, Chouery E, Blanluet M, El-Hayek S, Stoppa-Lyonnet D, Megarbane A. Farah RA, et al. J Pediatr Hematol Oncol. 2021 Jul 1;43(5):e727-e735. doi: 10.1097/MPH.0000000000001909. J Pediatr Hematol Oncol. 2021. PMID: 32947577

7

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. Clin Dysmorphol. 2021 Jan;30(1):44-49. doi: 10.1097/MCD.0000000000000348. Clin Dysmorphol. 2021. PMID: 33086258 Review. No abstract available.

8

SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family.

Deepthi A, Fakhoury O, Daher M, Gambarini A, El-Hayek S, Megarbane A. Deepthi A, et al. Ophthalmic Genet. 2021 Feb;42(1):88-91. doi: 10.1080/13816810.2020.1836660. Epub 2020 Oct 28. Ophthalmic Genet. 2021. PMID: 33108933 No abstract available.

9

A Report on a Family with TMTC3-Related Syndrome and Review.

Hana S, Karthik D, Shan J, El Hayek S, Chouchane L, Megarbane A. Hana S, et al. Case Rep Med. 2020 Nov 4;2020:7163038. doi: 10.1155/2020/7163038. eCollection 2020. Case Rep Med. 2020. PMID: 33293961 Free PMC article.

10

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. Mol Syndromol. 2019 Jul;10(4):219-222. doi: 10.1159/000501114. Epub 2019 Jun 28. Mol Syndromol. 2019. PMID: 31602195 Free PMC article.

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