Title: Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back
Authors: Rauen, Katherine A ×
Schoyer, Lisa
McCormick, Frank
Lin, Angela E
Allanson, Judith E
Stevenson, David A
Gripp, Karen W
Neri, Giovanni
Carey, John C
Legius, Eric
Tartaglia, Marco
Schubbert, Suzanne
Roberts, Amy E
Gelb, Bruce D
Shannon, Kevin
Gutmann, David H
McMahon, Martin
Guerra, Carmen
Fagin, James A
Yu, Benjamin
Aoki, Yoko
Neel, Benjamin G
Balmain, Allan
Drake, Richard R
Nolan, Garry P
Zenker, Martin
Bollag, Gideon
Sebolt-Leopold, Judith
Gibbs, Jackson B
Silva, Alcino J
Patton, E Elizabeth
Viskochil, David H
Kieran, Mark W
Korf, Bruce R
Hagerman, Randi J
Packer, Roger J
Melese, Teri #
Issue Date: Jan-2010
Publisher: Wiley-Liss
Series Title: American Journal of Medical Genetics A vol:152 issue:1 pages:4-24
Abstract: 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. (c) 2009 Wiley-Liss, Inc.
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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