Yammine T - Search Results

1

CFTR mutational screening by next-generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population.

Farra C, Awwad J, Hamadeh L, Khoueiry P, Halawi Z, Yazbeck N, Daher R, Souaid M, Hamdar L, Yammine T, Yunis K. Farra C, et al. Among authors: yammine t. Ann Hum Genet. 2022 Mar;86(2):80-86. doi: 10.1111/ahg.12450. Epub 2021 Dec 9. Ann Hum Genet. 2022. PMID: 34888852

2

A rare case of acute myeloid leukemia with t(12;19)(q13;q13).

Chebly A, Haddad FG, Bassil J, Yammine T, Korban R, Semaan W, El Karak F, Kourie HR, Farra C. Chebly A, et al. Among authors: yammine t. Leuk Res Rep. 2020 Jun 27;14:100216. doi: 10.1016/j.lrr.2020.100216. eCollection 2020. Leuk Res Rep. 2020. PMID: 32637310 Free PMC article.

3

Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin-Lowry syndrome in a family with variable features and diabetes 2.

Touma Boulos M, Moukarzel A, Yammine T, Salem N, Souaid M, Farra C. Touma Boulos M, et al. Among authors: yammine t. Clin Dysmorphol. 2021 Jan;30(1):32-35. doi: 10.1097/MCD.0000000000000343. Clin Dysmorphol. 2021. PMID: 32858545 No abstract available.

4

Deciphering balanced translocations in infertile males by next-generation sequencing to identify candidate genes for spermatogenesis disorders.

Yammine T, Reynaud N, Lejeune H, Diguet F, Rollat-Farnier PA, Labalme A, Plotton I, Farra C, Sanlaville D, Chouery E, Schluth-Bolard C. Yammine T, et al. Mol Hum Reprod. 2021 May 29;27(6):gaab034. doi: 10.1093/molehr/gaab034. Mol Hum Reprod. 2021. PMID: 34009290

5

Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy.

Aprahamian R, Yammine T, Salem N, Souaid M, Mansour H, Farra C. Aprahamian R, et al. Among authors: yammine t. Ophthalmic Genet. 2021 Dec;42(6):744-746. doi: 10.1080/13816810.2021.1955277. Epub 2021 Jul 20. Ophthalmic Genet. 2021. PMID: 34282983

6

Pediatric M5 acute myeloid leukemia with MLL-SEPT6 fusion and a favorable outcome.

Chebly A, Djambas Khayat C, Yammine T, Korban R, Semaan W, Bou Zeid J, Farra C. Chebly A, et al. Among authors: yammine t. Leuk Res Rep. 2021 Oct 26;16:100277. doi: 10.1016/j.lrr.2021.100277. eCollection 2021. Leuk Res Rep. 2021. PMID: 34760618 Free PMC article.

7

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.

Dafsari HS, Pemberton JG, Ferrer EA, Yammine T, Farra C, Mohammadi MH, Ghayoor Karimiani E, Hashemi N, Souaid M, Sabbagh S, Najarzadeh Torbati P, Khan S, Roze E, Moreno-De-Luca A, Bertoli-Avella AM, Houlden H, Balla T, Maroofian R. Dafsari HS, et al. Among authors: yammine t. Ann Clin Transl Neurol. 2022 Sep;9(9):1345-1358. doi: 10.1002/acn3.51634. Epub 2022 Jul 25. Ann Clin Transl Neurol. 2022. PMID: 35880319 Free PMC article.

8

Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.

Daou M, Souaid M, Yammine T, Khneisser I, Mansour H, Salem N, Nemr A, Awwad J, Moukarzel A, Farra C. Daou M, et al. Among authors: yammine t. Mol Genet Genomic Med. 2023 Feb;11(2):e2058. doi: 10.1002/mgg3.2058. Epub 2023 Jan 20. Mol Genet Genomic Med. 2023. PMID: 36680390 Free PMC article.

9

Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features.

Awwad J, Yammine T, Hamdar L, Souaid M, Farra C. Awwad J, et al. Among authors: yammine t. Clin Dysmorphol. 2023 Apr 1;32(2):80-83. doi: 10.1097/MCD.0000000000000447. Epub 2023 Feb 2. Clin Dysmorphol. 2023. PMID: 36779797 No abstract available.

10

Novel SCN9A variant associated with congenital insensitivity to pain.

Yammine T, Aprahamian R, Souaid M, Salem N, Awwad J, Farra C. Yammine T, et al. Mol Biol Rep. 2023 Jul;50(7):6293-6298. doi: 10.1007/s11033-023-08507-0. Epub 2023 May 25. Mol Biol Rep. 2023. PMID: 37231219

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