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The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

dc.rights.licenseopenen_US
dc.contributor.authorPIERPONT, Elizabeth I
dc.contributor.authorBENNETT, Anton M
dc.contributor.authorSCHOYER, Lisa
dc.contributor.authorSTRONACH, Beth
dc.contributor.authorANSCHUTZ, April
dc.contributor.authorBORRIE, Sarah C
dc.contributor.authorBRIGGS, Benjamin
dc.contributor.authorBURKITT-WRIGHT, Emma
dc.contributor.authorCASTEL, Pau
dc.contributor.authorCIRSTEA, Ion C
dc.contributor.authorDRAAISMA, Fieke
dc.contributor.authorELLIS, Michelle
dc.contributor.authorFEAR, Vanessa S
dc.contributor.authorFRONE, Megan N
dc.contributor.authorFLEX, Elisabetta
dc.contributor.authorGELB, Bruce D
dc.contributor.authorGREEN, Tamar
dc.contributor.authorGRIPP, Karen W
dc.contributor.authorKHOSHKHOO, Sattar
dc.contributor.authorKIERAN, Mark W
dc.contributor.authorKLEEMANN, Karolin
dc.contributor.authorKLEIN-TASMAN, Bonita P
dc.contributor.authorKONTARIDIS, Maria I
dc.contributor.authorKRUSZKA, Paul
dc.contributor.authorLEONI, Chiara
dc.contributor.authorLIU, Clifford Z
dc.contributor.authorMERCHANT, Nadia
dc.contributor.authorMAGOULAS, Pilar L
dc.contributor.authorMOERTEL, Christopher
dc.contributor.authorPRADA, Carlos E
dc.contributor.authorRAUEN, Katherine A
dc.contributor.authorROELOFS, Renée
hal.structure.identifierBiothérapies des maladies génétiques et cancers
hal.structure.identifierCentre de recherche Cardio-Thoracique de Bordeaux [Bordeaux] [CRCTB]
hal.structure.identifierCentre Génomique Fonctionnelle Bordeaux [Bordeaux] [CGFB]
hal.structure.identifierUniversité de Bordeaux [UB]
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorROSSIGNOL, Rodrigue
dc.contributor.authorSEVILLA, Christine
dc.contributor.authorSEVILLA, Gigi
dc.contributor.authorSHEEDY, Ryan
dc.contributor.authorSTIEGLITZ, Elliot
dc.contributor.authorSUN, Daochun
dc.contributor.authorTIEMENS, Dagmar
dc.contributor.authorWHITE, Forest
dc.contributor.authorWINGBERMÜHLE, Ellen
dc.contributor.authorWOLF, Cordula
dc.contributor.authorZENKER, Martin
dc.contributor.authorANDELFINGER, Gregor
dc.date.accessioned2024-07-16T09:43:44Z
dc.date.available2024-07-16T09:43:44Z
dc.date.issued2024-04-01
dc.identifier.issn1552-4833en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/200957
dc.description.abstractEnGermline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems. With increasing global recognition of these conditions, the 8th International RASopathies Symposium spotlighted global perspectives on clinical care and research, including strategies for building international collaborations and developing diverse patient cohorts in anticipation of interventional trials. This biannual meeting, organized by RASopathies Network, was held in a hybrid virtual/in-person format. The agenda featured emerging discoveries and case findings as well as progress in preclinical and therapeutic pipelines. Stakeholders including basic scientists, clinician-scientists, practitioners, industry representatives, patients, and family advocates gathered to discuss cutting edge science, recognize current gaps in knowledge, and hear from people with RASopathies about the experience of daily living. Presentations by RASopathy self-advocates and early-stage investigators were featured throughout the program to encourage a sustainable, diverse, long-term research and advocacy partnership focused on improving health and bringing treatments to people with RASopathies.
dc.language.isoENen_US
dc.rightsAttribution-NonCommercial 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/3.0/us/*
dc.subject.enHumans
dc.subject.enras Proteins
dc.subject.enMAP Kinase Signaling System
dc.subject.enCostello Syndrome
dc.subject.enNeoplasms
dc.subject.enEctodermal Dysplasia
dc.subject.enNoonan Syndrome
dc.subject.enHeart Defects
dc.subject.enCongenital
dc.title.enThe 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.
dc.title.alternativeAm J Med Genet Aen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1002/ajmg.a.63477en_US
dc.subject.halSciences du Vivant [q-bio]/Génétiqueen_US
dc.identifier.pubmed37969032en_US
bordeaux.journalAmerican Journal of Medical Genetics Part Aen_US
bordeaux.page63477en_US
bordeaux.volume194en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue4en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.identifier.funderIDAlexion Pharmaceuticalsen_US
bordeaux.identifier.funderIDBioMarin Pharmaceuticalen_US
bordeaux.import.sourcepubmed
hal.identifierhal-04649533
hal.version1
hal.date.transferred2024-07-16T09:43:51Z
hal.popularnonen_US
hal.audienceInternationaleen_US
hal.exporttrue
workflow.import.sourcepubmed
dc.rights.ccCC BY-NC-SAen_US
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