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124 results

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Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Whalen S, Héron D, Gaillon T, Moldovan O, Rossi M, Devillard F, Giuliano F, Soares G, Mathieu-Dramard M, Afenjar A, Charles P, Mignot C, Burglen L, Van Maldergem L, Piard J, Aftimos S, Mancini G, Dias P, Philip N, Goldenberg A, Le Merrer M, Rio M, Josifova D, Van Hagen JM, Lacombe D, Edery P, Dupuis-Girod S, Putoux A, Sanlaville D, Fischer R, Drévillon L, Briand-Suleau A, Metay C, Goossens M, Amiel J, Jacquette A, Giurgea I. Whalen S, et al. Hum Mutat. 2012 Jan;33(1):64-72. doi: 10.1002/humu.21639. Epub 2011 Nov 23. Hum Mutat. 2012. PMID: 22045651
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
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.
Efficacy and safety of intravenous bevacizumab on severe bleeding associated with hemorrhagic hereditary telangiectasia: A national, randomized multicenter trial.
Dupuis-Girod S, Rivière S, Lavigne C, Fargeton AE, Gilbert-Dussardier B, Grobost V, Leguy-Seguin V, Maillard H, Mohamed S, Decullier E, Roux A, Bernard L, Saurin JC, Saroul N, Faure F, Cartier C, Altwegg R, Laccourreye L, Oberti F, Beaudoin M, Dhelens C, Desvignes C, Azzopardi N, Paintaud G, Hermann R, Chinet T. Dupuis-Girod S, et al. J Intern Med. 2023 Dec;294(6):761-774. doi: 10.1111/joim.13714. Epub 2023 Aug 23. J Intern Med. 2023. PMID: 37592715 Clinical Trial.
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 Apr 4:jmg-2023-109632. doi: 10.1136/jmg-2023-109632. Online ahead of print. J Med Genet. 2024. PMID: 38575304 Free article.
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Zufferey F, Sherr EH, Beckmann ND, Hanson E, Maillard AM, Hippolyte L, Macé A, Ferrari C, Kutalik Z, Andrieux J, Aylward E, Barker M, Bernier R, Bouquillon S, Conus P, Delobel B, Faucett WA, Goin-Kochel RP, Grant E, Harewood L, Hunter JV, Lebon S, Ledbetter DH, Martin CL, Männik K, Martinet D, Mukherjee P, Ramocki MB, Spence SJ, Steinman KJ, Tjernagel J, Spiro JE, Reymond A, Beckmann JS, Chung WK, Jacquemont S; Simons VIP Consortium; 16p11.2 European Consortium. Zufferey F, et al. J Med Genet. 2012 Oct;49(10):660-8. doi: 10.1136/jmedgenet-2012-101203. J Med Genet. 2012. PMID: 23054248 Free PMC article.
124 results