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126 results

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Page 1
Sustained correction of X-linked severe combined immunodeficiency by ex vivo gene therapy.
Hacein-Bey-Abina S, Le Deist F, Carlier F, Bouneaud C, Hue C, De Villartay JP, Thrasher AJ, Wulffraat N, Sorensen R, Dupuis-Girod S, Fischer A, Davies EG, Kuis W, Leiva L, Cavazzana-Calvo M. Hacein-Bey-Abina S, et al. N Engl J Med. 2002 Apr 18;346(16):1185-93. doi: 10.1056/NEJMoa012616. N Engl J Med. 2002. PMID: 11961146 Free article. Clinical Trial.
[Hereditary hemorrhagic telangiectasia].
Parrot A, Barral M, Amiot X, Bachmeyer C, Wagner I, Eyries M, Alamowitch S, Ederhy S, Epaud R, Dupuis-Girod S, Cadranel J. Parrot A, et al. Rev Mal Respir. 2023 May;40(5):391-405. doi: 10.1016/j.rmr.2023.02.007. Epub 2023 Apr 14. Rev Mal Respir. 2023. PMID: 37062633 Review. French.
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants.
Guilhem A, Dupuis-Girod S, Espitia O, Rivière S, Seguier J, Kerjouan M, Lavigne C, Maillard H, Magro P, Alric L, Lipsker D, Parrot A, Leguy V, Vanlemmens C, Guibaud L, Vikkula M, Eyries M, Valette PJ, Giraud S. Guilhem A, et al. J Med Genet. 2023 Sep;60(9):905-909. doi: 10.1136/jmg-2022-109107. Epub 2023 Feb 22. J Med Genet. 2023. PMID: 36813543
Antiplatelet and anticoagulant therapies in hereditary hemorrhagic telangiectasia: A large French cohort study (RETROPLACOTEL).
Grobost V, Hammi S, Pereira B, Guilhem A, Duffau P, Seguier J, Parrot A, Gautier G, Alric L, Kerjouan M, Le Guillou X, Simon D, Chaussavoine L, Rondeau-Lutz M, Leguy-Seguin V, Delagrange L, Lavigne C, Maillard H, Dupuis-Girod S; French HHT group. Grobost V, et al. Thromb Res. 2023 Sep;229:107-113. doi: 10.1016/j.thromres.2023.07.001. Epub 2023 Jul 6. Thromb Res. 2023. PMID: 37437516
Phenotypic characterisation of SMAD4 variant carriers.
Caillot C, Saurin JC, Hervieu V, Faoucher M, Reversat J, Decullier E, Poncet G, Bailly S, Giraud S, Dupuis-Girod S. Caillot C, et al. Among authors: dupuis girod s. J Med Genet. 2024 Jul 19;61(8):734-740. doi: 10.1136/jmg-2023-109632. J Med Genet. 2024. PMID: 38575304 Free PMC article.
Impact of heterozygous ALK1 mutations on the transcriptomic response to BMP9 and BMP10 in endothelial cells from hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension donors.
Al Tabosh T, Liu H, Koça D, Al Tarrass M, Tu L, Giraud S, Delagrange L, Beaudoin M, Rivière S, Grobost V, Rondeau-Lutz M, Dupuis O, Ricard N, Tillet E, Machillot P, Salomon A, Picart C, Battail C, Dupuis-Girod S, Guignabert C, Desroches-Castan A, Bailly S. Al Tabosh T, et al. Among authors: dupuis girod s. Angiogenesis. 2024 May;27(2):211-227. doi: 10.1007/s10456-023-09902-8. Epub 2024 Jan 31. Angiogenesis. 2024. PMID: 38294582 Free PMC article.
126 results