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The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.
Kontaridis MI, Roberts AE, Schill L, Schoyer L, Stronach B, Andelfinger G, Aoki Y, Axelrad ME, Bakker A, Bennett AM, Broniscer A, Castel P, Chang CA, Cyganek L, Das TK, den Hertog J, Galperin E, Garg S, Gelb BD, Gordon K, Green T, Gripp KW, Itkin M, Kiuru M, Korf BR, Livingstone JR, López-Juárez A, Magoulas PL, Mansour S, Milner T, Parker E, Pierpont EI, Plouffe K, Rauen KA, Shankar SP, Smith SB, Stevenson DA, Tartaglia M, Van R, Wagner ME, Ware SM, Zenker M. Kontaridis MI, et al. Among authors: andelfinger g. Am J Med Genet A. 2022 Jun;188(6):1915-1927. doi: 10.1002/ajmg.a.62716. Epub 2022 Mar 9. Am J Med Genet A. 2022. PMID: 35266292 Free PMC article.
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition.
Andelfinger G, Marquis C, Raboisson MJ, Théoret Y, Waldmüller S, Wiegand G, Gelb BD, Zenker M, Delrue MA, Hofbeck M. Andelfinger G, et al. J Am Coll Cardiol. 2019 May 7;73(17):2237-2239. doi: 10.1016/j.jacc.2019.01.066. J Am Coll Cardiol. 2019. PMID: 31047013 Free PMC article. No abstract available.
MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease.
Mussa A, Carli D, Giorgio E, Villar AM, Cardaropoli S, Carbonara C, Campagnoli MF, Galletto P, Palumbo M, Olivieri S, Isella C, Andelfinger G, Tartaglia M, Botta G, Brusco A, Medico E, Ferrero GB. Mussa A, et al. Among authors: andelfinger g. Genes (Basel). 2021 Dec 21;13(1):6. doi: 10.3390/genes13010006. Genes (Basel). 2021. PMID: 35052347 Free PMC article.
New prospectives on treatment opportunities in RASopathies.
Gelb BD, Yohe ME, Wolf C, Andelfinger G. Gelb BD, et al. Among authors: andelfinger g. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):541-560. doi: 10.1002/ajmg.c.32024. Epub 2022 Dec 19. Am J Med Genet C Semin Med Genet. 2022. PMID: 36533679 Free PMC article. Review.
Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm.
Chetaille P, Preuss C, Burkhard S, Côté JM, Houde C, Castilloux J, Piché J, Gosset N, Leclerc S, Wünnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, de Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC, Gallo-McFarlane E, Benson DW, Moreau C, Labuda D; FORGE Canada Consortium; Zhan SH, Shen Y, Jomphe M, Jones SJ, Bakkers J, Andelfinger G. Chetaille P, et al. Among authors: andelfinger g. Nat Genet. 2014 Nov;46(11):1245-9. doi: 10.1038/ng.3113. Epub 2014 Oct 5. Nat Genet. 2014. PMID: 25282101
Genetic factors in congenital heart malformation.
Andelfinger G. Andelfinger G. Clin Genet. 2008 Jun;73(6):516-27. doi: 10.1111/j.1399-0004.2008.01009.x. Epub 2008 May 6. Clin Genet. 2008. PMID: 18462450 Review.
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H; FORGE Canada Consortium; Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS. Bernier FP, et al. Among authors: andelfinger g. Am J Hum Genet. 2012 May 4;90(5):925-33. doi: 10.1016/j.ajhg.2012.04.004. Epub 2012 Apr 26. Am J Hum Genet. 2012. PMID: 22541558 Free PMC article.
123 results