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HRAS-Mutant Cardiomyocyte Model of Multifocal Atrial Tachycardia.
Rodríguez NA, Patel N, Dariolli R, Ng S, Aleman AG, Gong JQX, Lin HM, Rodríguez M, Josowitz R, Sol-Church K, Gripp KW, Lin X, Song SC, Fishman GI, Sobie EA, Gelb BD. Rodríguez NA, et al. Circ Arrhythm Electrophysiol. 2024 Apr;17(4):e012022. doi: 10.1161/CIRCEP.123.012022. Epub 2024 Feb 28. Circ Arrhythm Electrophysiol. 2024. PMID: 38415356
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. 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
New prospectives on treatment opportunities in RASopathies.
Gelb BD, Yohe ME, Wolf C, Andelfinger G. Gelb BD, et al. 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.
MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus.
de Blank PMK, Gross AM, Akshintala S, Blakeley JO, Bollag G, Cannon A, Dombi E, Fangusaro J, Gelb BD, Hargrave D, Kim A, Klesse LJ, Loh M, Martin S, Moertel C, Packer R, Payne JM, Rauen KA, Rios JJ, Robison N, Schorry EK, Shannon K, Stevenson DA, Stieglitz E, Ullrich NJ, Walsh KS, Weiss BD, Wolters PL, Yohay K, Yohe ME, Widemann BC, Fisher MJ. de Blank PMK, et al. Neuro Oncol. 2022 Nov 2;24(11):1845-1856. doi: 10.1093/neuonc/noac165. Neuro Oncol. 2022. PMID: 35788692 Free PMC article. Review.
Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis.
Weaver KN, Chen J, Shikany A, White PS, Prada CE, Gelb BD, Cnota JF; Pediatric Cardiac Genomics Consortium Investigators*. Weaver KN, et al. Circ Genom Precis Med. 2022 Aug;15(4):e003635. doi: 10.1161/CIRCGEN.121.003635. Epub 2022 Jun 6. Circ Genom Precis Med. 2022. PMID: 35666834 Free PMC article.
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. 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.
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Meester JAN, Peeters S, Van Den Heuvel L, Vandeweyer G, Fransen E, Cappella E, Dietz HC, Forbus G, Gelb BD, Goldmuntz E, Hoskoppal A, Landstrom AP, Lee T, Mital S, Morris S, Olson AK, Renard M, Roden DM, Singh MN, Selamet Tierney ES, Tretter JT, Van Driest SL, Willing M, Verstraeten A, Van Laer L, Lacro RV, Loeys BL. Meester JAN, et al. Genet Med. 2022 May;24(5):1045-1053. doi: 10.1016/j.gim.2021.12.015. Epub 2022 Jan 17. Genet Med. 2022. PMID: 35058154 Free PMC article.
38 results