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Page 1
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, Odent S. Cuinat S, et al. Among authors: perani a. J Med Genet. 2024 Aug 29;61(9):824-832. doi: 10.1136/jmg-2024-109854. J Med Genet. 2024. PMID: 38849204 Free PMC article.
Clinical management of molecular alterations identified by high throughput sequencing in patients with advanced solid tumors in treatment failure: Real-world data from a French hospital.
Pinet S, Durand S, Perani A, Darnaud L, Amadjikpe F, Yon M, Darbas T, Vergnenegre A, Egenod T, Simonneau Y, Le Brun-Ly V, Pestre J, Venat L, Thuillier F, Chaunavel A, Duchesne M, Fermeaux V, Guyot A, Lacorre S, Bessette B, Lalloué F, Durand K, Deluche E. Pinet S, et al. Among authors: perani a. Front Oncol. 2023 Feb 27;13:1104659. doi: 10.3389/fonc.2023.1104659. eCollection 2023. Front Oncol. 2023. PMID: 36923436 Free PMC article.
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Ganne B, Dauriat B, Richard L, Lamari F, Ghorab K, Magy L, Benkirane M, Perani A, Marquet V, Calvas P, Yardin C, Bourthoumieu S. Ganne B, et al. Among authors: perani a. Neurol Sci. 2022 Nov;43(11):6517-6527. doi: 10.1007/s10072-022-06270-x. Epub 2022 Aug 4. Neurol Sci. 2022. PMID: 35925454 Free article. Review.
New structural variations responsible for Charcot-Marie-Tooth disease: The first two large KIF5A deletions detected by CovCopCan software.
Pyromali I, Perani A, Nizou A, Benslimane N, Derouault P, Bourthoumieu S, Fradin M, Sole G, Duval F, Gomes C, Favreau F, Sturtz F, Magdelaine C, Lia AS. Pyromali I, et al. Among authors: perani a. Comput Struct Biotechnol J. 2021 Jul 30;19:4265-4272. doi: 10.1016/j.csbj.2021.07.037. eCollection 2021. Comput Struct Biotechnol J. 2021. PMID: 34429846 Free PMC article.
Development of monoclonal anti-PDGF-CC antibodies as tools for investigating human tissue expression and for blocking PDGF-CC induced PDGFRα signalling in vivo.
Li H, Zeitelhofer M, Nilsson I, Liu X, Allan L, Gloria B, Perani A, Murone C, Catimel B, Neville AM, Scott FE, Scott AM, Eriksson U. Li H, et al. Among authors: perani a. PLoS One. 2018 Jul 27;13(7):e0201089. doi: 10.1371/journal.pone.0201089. eCollection 2018. PLoS One. 2018. PMID: 30052660 Free PMC article.
23 results