The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

David A. Stevenson; Lisa Schill; Lisa Schoyer; Brage S. Andresen; Annette Bakker; Pinar Bayrak-Toydemir; Emma Burkitt-Wright; Kathryn Chatfield; Florent Elefteriou; Ype Elgersma; Michael J. Fisher; David Franz; Bruce D. Gelb; Anne Goriely; Karen W. Gripp; Antonio Y. Hardan; Kim M. Keppler-Noreuil; Bronwyn Kerr; Bruce Korf; Chiara Leoni; Frank McCormick; Scott R. Plotkin; Katherine A. Rauen; Karlyne Reilly; Amy Roberts; Abby Sandler; Dawn Siegel; Karin Walsh; Brigitte C. Widemann

doi:10.1002/ajmg.a.37723

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

David A. Stevenson
, Lisa Schill
, Lisa Schoyer
, Brage S. Andresen
, Annette Bakker
, Pinar Bayrak-Toydemir
, Emma Burkitt-Wright
, Kathryn Chatfield
, Florent Elefteriou
, Ype Elgersma
, Michael J. Fisher
, David Franz
, Bruce D. Gelb
, Anne Goriely
, Karen W. Gripp
, Antonio Y. Hardan
, Kim M. Keppler-Noreuil
, Bronwyn Kerr
, Bruce Korf
, Chiara Leoni

Frank McCormick, Scott R. Plotkin, Katherine A. Rauen, Karlyne Reilly, Amy Roberts, Abby Sandler, Dawn Siegel, Karin Walsh, Brigitte C. Widemann

Department of Pediatrics, Delaware Valley

Stanford University
RASopathies Network
University of Southern Denmark
Children's Tumor Foundation
University of Utah
University of Manchester
University of Colorado Denver
Baylor College of Medicine
Erasmus University Rotterdam
University of Pennsylvania
University of Cincinnati
Icahn School of Medicine at Mount Sinai
University of Oxford
National Institutes of Health
University of Alabama at Birmingham
Fondazione Policlinico Universitario “A. Gemelli,” Universita Cattolica del Sacro Cuore
Massachusetts General Hospital
University of California at Davis
Boston Children's Hospital
Medical College of Wisconsin
George Washington University

Producción científica › revisión exhaustiva

25 Citas (Scopus)

Resumen

The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation–arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field.

Idioma original	English
Páginas (desde-hasta)	1959-1966
Número de páginas	8
Publicación	American Journal of Medical Genetics, Part A
Volumen	170
N.º	8
DOI	https://doi.org/10.1002/ajmg.a.37723
Estado	Published - 1 ago 2016

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Stevenson, D. A., Schill, L., Schoyer, L., Andresen, B. S., Bakker, A., Bayrak-Toydemir, P., Burkitt-Wright, E., Chatfield, K., Elefteriou, F., Elgersma, Y., Fisher, M. J., Franz, D., Gelb, B. D., Goriely, A., Gripp, K. W., Hardan, A. Y., Keppler-Noreuil, K. M., Kerr, B., Korf, B., ... Widemann, B. C. (2016). The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. American Journal of Medical Genetics, Part A, 170(8), 1959-1966. https://doi.org/10.1002/ajmg.a.37723

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title = "The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway",

abstract = "The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation{\textendash}arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field.",

keywords = "RASopathy, Ras/MAPK, cancer, clinical trials, experimental models, rare disorders",

author = "Stevenson, \{David A.\} and Lisa Schill and Lisa Schoyer and Andresen, \{Brage S.\} and Annette Bakker and Pinar Bayrak-Toydemir and Emma Burkitt-Wright and Kathryn Chatfield and Florent Elefteriou and Ype Elgersma and Fisher, \{Michael J.\} and David Franz and Gelb, \{Bruce D.\} and Anne Goriely and Gripp, \{Karen W.\} and Hardan, \{Antonio Y.\} and Keppler-Noreuil, \{Kim M.\} and Bronwyn Kerr and Bruce Korf and Chiara Leoni and Frank McCormick and Plotkin, \{Scott R.\} and Rauen, \{Katherine A.\} and Karlyne Reilly and Amy Roberts and Abby Sandler and Dawn Siegel and Karin Walsh and Widemann, \{Brigitte C.\}",

note = "Publisher Copyright: {\textcopyright} 2016 Wiley Periodicals, Inc.",

year = "2016",

month = aug,

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doi = "10.1002/ajmg.a.37723",

language = "English",

volume = "170",

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Stevenson, DA, Schill, L, Schoyer, L, Andresen, BS, Bakker, A, Bayrak-Toydemir, P, Burkitt-Wright, E, Chatfield, K, Elefteriou, F, Elgersma, Y, Fisher, MJ, Franz, D, Gelb, BD, Goriely, A, Gripp, KW, Hardan, AY, Keppler-Noreuil, KM, Kerr, B, Korf, B, Leoni, C, McCormick, F, Plotkin, SR, Rauen, KA, Reilly, K, Roberts, A, Sandler, A, Siegel, D, Walsh, K & Widemann, BC 2016, 'The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway', American Journal of Medical Genetics, Part A, vol. 170, n.º 8, pp. 1959-1966. https://doi.org/10.1002/ajmg.a.37723

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AU - Stevenson, David A.

AU - Schill, Lisa

AU - Schoyer, Lisa

AU - Andresen, Brage S.

AU - Bakker, Annette

AU - Bayrak-Toydemir, Pinar

AU - Burkitt-Wright, Emma

AU - Chatfield, Kathryn

AU - Elefteriou, Florent

AU - Elgersma, Ype

AU - Fisher, Michael J.

AU - Franz, David

AU - Gelb, Bruce D.

AU - Goriely, Anne

AU - Gripp, Karen W.

AU - Hardan, Antonio Y.

AU - Keppler-Noreuil, Kim M.

AU - Kerr, Bronwyn

AU - Korf, Bruce

AU - Leoni, Chiara

AU - McCormick, Frank

AU - Plotkin, Scott R.

AU - Rauen, Katherine A.

AU - Reilly, Karlyne

AU - Roberts, Amy

AU - Sandler, Abby

AU - Siegel, Dawn

AU - Walsh, Karin

AU - Widemann, Brigitte C.

PY - 2016/8/1

Y1 - 2016/8/1

N2 - The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation–arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field.

AB - The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation–arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field.

KW - RASopathy

KW - Ras/MAPK

KW - cancer

KW - clinical trials

KW - experimental models

KW - rare disorders

UR - https://www.scopus.com/pages/publications/84966292091

U2 - 10.1002/ajmg.a.37723

DO - 10.1002/ajmg.a.37723

M3 - Article

C2 - 27155140

AN - SCOPUS:84966292091

SN - 1552-4825

VL - 170

SP - 1959

EP - 1966

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 8

ER -

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

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