2026-07-21T14:26:58Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/231322024-11-29T20:15:13Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597
Repisalud author Rauen, Katherine A author Schoyer, Lisa author McCormick, Frank author Lin, Angela E author Allanson, Judith E author Stevenson, David A author Gripp, Karen W author Neri, Giovanni author Carey, John C author Legius, Eric author Tartaglia, Marco author Schubbert, Suzanne author Roberts, Amy E author Gelb, Bruce D author Shannon, Kevin author Gutmann, David H author McMahon, Martin author Guerra, Carmen author Fagin, James A author Yu, Benjamin author Aoki, Yoko author Neel, Benjamin G author Balmain, Allan author Drake, Richard R author Nolan, Garry P author Zenker, Martin author Bollag, Gideon author Sebolt-Leopold, Judith author Gibbs, Jackson B author Silva, Alcino J author Patton, E Elizabeth author Viskochil, David H author Kieran, Mark W author Korf, Bruce R author Hagerman, Randi J author Packer, Roger J author Melese, Teri funder NIH - National Cancer Institute (NCI) (Estados Unidos) 2024-09-16T08:17:21Z 2024-09-16T08:17:21Z 2010-01 Am J Med Genet A . 2010;152A(1):4-24 10.1002/ajmg.a.33183 1552-4833 American journal of medical genetics. Part A https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051786/pdf/nihms158962.pdf 20014119 https://hdl.handle.net/20.500.12105/23132 The RASopathies are a group of genetic syndromes caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Some of these syndromes are neurofibromatosis type 1, Noonan syndrome, Costello syndrome, cardio-facio-cutaneous syndrome, LEOPARD syndrome and Legius syndrome. Their common underlying pathogenetic mechanism brings about significant overlap in phenotypic features and includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Genetic Syndromes of the Ras/MAPK Pathway: From Bedside to Bench and Back" chronicle the timely and typical research symposium which brought together clinicians, basic scientists, physician-scientists, advocate leaders, trainees, students and individuals with Ras syndromes and their families. The goals, to discuss basic science and clinical issues, to set forth a solid framework for future research, to direct translational applications towards therapy and to set forth best practices for individuals with RASopathies were successfully meet with a commitment to begin to move towards clinical trials. eng Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back research article