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The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
Pierpont EI, Bennett AM, Schoyer L, Stronach B, Anschutz A, Borrie SC, Briggs B, Burkitt-Wright E, Castel P, Cirstea IC, Draaisma F, Ellis M, Fear VS, Frone MN, Flex E, Gelb BD, Green T, Gripp KW, Khoshkhoo S, Kieran MW, Kleemann K, Klein-Tasman BP, Kontaridis MI, Kruszka P, Leoni C, Liu CZ, Merchant N, Magoulas PL, Moertel C, Prada CE, Rauen KA, Roelofs R, Rossignol R, Sevilla C, Sevilla G, Sheedy R, Stieglitz E, Sun D, Tiemens D, White F, Wingbermühle E, Wolf C, Zenker M, Andelfinger G. Pierpont EI, et al. Among authors: andelfinger g. Am J Med Genet A. 2024 Apr;194(4):e63477. doi: 10.1002/ajmg.a.63477. Epub 2023 Nov 15. Am J Med Genet A. 2024. PMID: 37969032
Loss of ADAMTS19 causes progressive non-syndromic heart valve disease.
Wünnemann F, Ta-Shma A, Preuss C, Leclerc S, van Vliet PP, Oneglia A, Thibeault M, Nordquist E, Lincoln J, Scharfenberg F, Becker-Pauly C, Hofmann P, Hoff K, Audain E, Kramer HH, Makalowski W, Nir A, Gerety SS, Hurles M, Comes J, Fournier A, Osinska H, Robins J, Pucéat M; MIBAVA Leducq Consortium principal investigators; Elpeleg O, Hitz MP, Andelfinger G. Wünnemann F, et al. Among authors: andelfinger g. Nat Genet. 2020 Jan;52(1):40-47. doi: 10.1038/s41588-019-0536-2. Epub 2019 Dec 16. Nat Genet. 2020. PMID: 31844321 Free PMC article.
Cé anvi baille ki baille (C'est l'envie de donner qui donne-It Is the Desire to Give That Gives).
Alami Laroussi N, Andelfinger G, Bigras JL, Boutin C, Brassard M, Dahdah N, Fournier A, Miró J, Raboisson MJ, van Doesburg N. Alami Laroussi N, et al. Among authors: andelfinger g. CJC Pediatr Congenit Heart Dis. 2022 Nov 23;2(1):1-2. doi: 10.1016/j.cjcpc.2022.11.003. eCollection 2023 Feb. CJC Pediatr Congenit Heart Dis. 2022. PMID: 37970102 Free PMC article. No abstract available.
Treatment of Refractory Epilepsy With MEK Inhibitor in Patients With RASopathy.
D'Onofrio G, Delrue MA, Lortie A, Marquis C, Striano P, Jaworski M, Andelfinger G, Perreault S. D'Onofrio G, et al. Among authors: andelfinger g. Pediatr Neurol. 2023 Nov;148:148-151. doi: 10.1016/j.pediatrneurol.2023.08.019. Epub 2023 Aug 20. Pediatr Neurol. 2023. PMID: 37722300
122 results