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Page 1
TRIT1 deficiency: Two novel patients with four novel variants.
Smol T, Brunelle P, Caumes R, Boute-Benejean O, Thuillier C, Figeac M, Ait-Yahya E, Bonte F, Mau-Them FT, Thauvin-Robinet C, Faivre L, Roche-Lestienne C, Manouvrier-Hanu S, Petit F, Ghoumid J. Smol T, et al. Among authors: ait yahya e. Eur J Med Genet. 2022 Nov;65(11):104603. doi: 10.1016/j.ejmg.2022.104603. Epub 2022 Aug 29. Eur J Med Genet. 2022. PMID: 36049610
Galectin-3 modulates epithelial cell adaptation to stress at the ER-mitochondria interface.
Coppin L, Jannin A, Ait Yahya E, Thuillier C, Villenet C, Tardivel M, Bongiovanni A, Gaston C, de Beco S, Barois N, van Seuningen I, Durand E, Bonnefond A, Vienne JC, Vamecq J, Figeac M, Vincent A, Delacour D, Porchet N, Pigny P. Coppin L, et al. Among authors: ait yahya e. Cell Death Dis. 2020 May 12;11(5):360. doi: 10.1038/s41419-020-2556-3. Cell Death Dis. 2020. PMID: 32398681 Free PMC article.
Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods.
Coppin L, Plouvier P, Crépin M, Jourdain AS, Ait Yahya E, Richard S, Bressac-de Paillerets B, Cardot-Bauters C, Lejeune S, Leclerc J, Pigny P. Coppin L, et al. Among authors: ait yahya e. J Mol Diagn. 2019 May;21(3):462-470. doi: 10.1016/j.jmoldx.2019.01.005. Epub 2019 Feb 5. J Mol Diagn. 2019. PMID: 30731206 Free article.
Genetic predisposition to neural crest-derived tumors: revisiting the role of KIF1B.
Cardot Bauters C, Leteurtre E, Carnaille B, Do Cao C, Espiard S, Penven M, Destailleur E, Szuster I, Lovecchio T, Leclerc J, Frénois F, Esquivel E, Dahia PLM, Ait-Yahya E, Crépin M, Pigny P. Cardot Bauters C, et al. Among authors: ait yahya e. Endocr Connect. 2020 Oct;9(10):1042-1050. doi: 10.1530/EC-20-0460. Endocr Connect. 2020. PMID: 33112832 Free PMC article.
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.
Leclerc J, Flament C, Lovecchio T, Delattre L, Ait Yahya E, Baert-Desurmont S, Burnichon N, Bronner M, Cabaret O, Lejeune S, Guimbaud R, Morin G, Mauillon J, Jonveaux P, Laurent-Puig P, Frébourg T, Porchet N, Buisine MP. Leclerc J, et al. Genet Med. 2018 Dec;20(12):1589-1599. doi: 10.1038/gim.2018.47. Epub 2018 Apr 12. Genet Med. 2018. PMID: 29790873 Free article.
RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.
Vanlerberghe C, Frénois F, Smol T, Jourdain AS, Escande F, Aït-Yahya E, Aldeeri AA, Yu TW, Cormier-Daire V, Ghoumid J, Jacob M, Newbury-Ecob R, Manouvrier S, Platon J, Sailer S, Brunelle P, Da Costa L, Petit F. Vanlerberghe C, et al. Among authors: ait yahya e. Genet Med. 2024 Dec;26(12):101266. doi: 10.1016/j.gim.2024.101266. Epub 2024 Sep 10. Genet Med. 2024. PMID: 39268718
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