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A novel TBX1 missense mutation in patients with syndromic congenital heart defects.
Jaouadi A, Tabebi M, Abdelhedi F, Abid D, Kamoun F, Chabchoub I, Maatoug S, Doukali H, Belghuith N, Ksentini MA, Keskes LA, Triki C, Hachicha M, Kamoun S, Kamoun H. Jaouadi A, et al. Among authors: abdelhedi f. Biochem Biophys Res Commun. 2018 May 15;499(3):563-569. doi: 10.1016/j.bbrc.2018.03.190. Epub 2018 Mar 28. Biochem Biophys Res Commun. 2018. PMID: 29596833
8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.
Ben Ayed I, Bouzid A, Kammoun F, Souissi A, Jallouli O, Mallouli S, Guidara S, Loukil S, Aloulou H, Jbeli F, Aouichaoui S, Abid D, Abdelhedi F, Triki C, Kamoun H, Masmoudi S. Ben Ayed I, et al. Among authors: abdelhedi f. Mol Genet Genomic Med. 2021 Nov;9(11):e1811. doi: 10.1002/mgg3.1811. Epub 2021 Sep 22. Mol Genet Genomic Med. 2021. PMID: 34549899 Free PMC article.
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Ben Ayed I, Ouarda W, Frikha F, Kammoun F, Souissi A, Ben Said M, Bouzid A, Elloumi I, Hamdani TM, Gharbi N, Baklouti N, Guirat M, Mejdoub F, Kharrat N, Boujelbene I, Abdelhedi F, Belguith N, Keskes L, Gibriel AA, Kamoun H, Triki C, Alimi AM, Masmoudi S. Ben Ayed I, et al. Among authors: abdelhedi f. Am J Med Genet A. 2021 Apr;185(4):1081-1090. doi: 10.1002/ajmg.a.62065. Epub 2021 Jan 6. Am J Med Genet A. 2021. PMID: 33403770
An unusual familial Xp22.12 microduplication including EIF1AX: A novel candidate dosage-sensitive gene for premature ovarian insufficiency.
Sakka R, Abdelhedi F, Sellami H, Pichon B, Lajmi Y, Mnif M, Kebaili S, Derbel R, Kamoun H, Gdoura R, Delbaere A, Desir J, Abramowicz M, Vialard F, Dupont JM, Ammar-Keskes L. Sakka R, et al. Among authors: abdelhedi f. Eur J Med Genet. 2022 Nov;65(11):104613. doi: 10.1016/j.ejmg.2022.104613. Epub 2022 Sep 14. Eur J Med Genet. 2022. PMID: 36113757
Unusual association of turner syndrome and hypopituitarism in a Tunisian family.
Bougacha-Elleuch N, Elleuch M, Charfi N, Mnif F, Belghith N, Abdelhedi F, Kammoun H, Hachicha M, Mnif M, Abid M. Bougacha-Elleuch N, et al. Among authors: abdelhedi f. Curr Res Transl Med. 2016 Jan-Mar;64(1):9-13. doi: 10.1016/j.retram.2016.01.003. Epub 2016 Feb 19. Curr Res Transl Med. 2016. PMID: 27140594
Occurrence of Hypopituitarism in Tunisian Turner Syndrome patients: familial versus sporadic cases.
Mnif-Feki M, Safi W, Bougacha-Elleuch N, Abid G, Moalla M, Elleuch M, Ben Salah DH, Rekik N, Belguith N, Abdelhedi F, Kammoun T, Hachicha M, Charfi N, Mnif F, Kammoun H, Hadj Kacem H, Hadj-Kacem F, Abid M. Mnif-Feki M, et al. Among authors: abdelhedi f. Gynecol Endocrinol. 2021 Sep;37(9):848-852. doi: 10.1080/09513590.2021.1939298. Epub 2021 Jun 14. Gynecol Endocrinol. 2021. PMID: 34124982
13 results