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

David A Stevenson; Lisa  Schill; Lisa Schoyer; Brage Storstein Andresen; A Bakker; P Bayrak-Toydemir; Emma Burkitt-Wright; K Chatfield; F Elefteriou; Y Elgersma; MJ Fischer; D Franz; Bruce Gelb; Anne Goriely; KW Gripp; A Hardan; K Keppler-Noreuil; B Kerr; B Korf; C Leoni; Frank McCormick; S Plotkin; KA Rauen; K Reilly; A Roberts; A Sandler; D Siegel; K Walsh; BC 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 Storstein Andresen, A Bakker, P Bayrak-Toydemir, Emma Burkitt-Wright, K Chatfield, F Elefteriou, Y Elgersma, MJ Fischer, D Franz, Bruce Gelb, Anne Goriely, KW Gripp, A Hardan, K Keppler-Noreuil , B Kerr, B Korf, C LeoniFrank McCormick, S Plotkin, KA Rauen, K Reilly, A Roberts, A Sandler, D Siegel, K Walsh, BC Widemann

Institut for Biokemi og Molekylær Biologi

Publikation: Bidrag til tidsskrift › Konferenceartikel › Forskning › peer review

Abstrakt

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.

Originalsprog	Engelsk
Tidsskrift	American Journal of Medical Genetics. Part A
Vol/bind	170
Udgave nummer	8
Sider (fra-til)	1959-1966
ISSN	1552-4825
DOI	https://doi.org/10.1002/ajmg.a.37723
Status	Udgivet - 2016
Begivenhed	4th International RASopathies Symposium - Seattle, USA Varighed: 17. jul. 2015 → 19. jul. 2016

Konference

Konference	4th International RASopathies Symposium
Land/Område	USA
By	Seattle
Periode	17/07/2015 → 19/07/2016

Dokumenter og links

10.1002/ajmg.a.37723

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4945362/pdf/nihms795690.pdf

Citationsformater

Stevenson, D. A., Schill, L., Schoyer , L., Andresen, B. S., Bakker, A., Bayrak-Toydemir, P., Burkitt-Wright, E., Chatfield, K., Elefteriou, F., Elgersma, Y., Fischer, MJ., Franz, D., Gelb, B., Goriely, A., Gripp, KW., Hardan, A., Keppler-Noreuil , K., Kerr, B., Korf, B., ... Widemann, BC. (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

Stevenson, David A ; Schill, Lisa ; Schoyer , Lisa ; Andresen, Brage Storstein ; Bakker, A ; Bayrak-Toydemir, P ; Burkitt-Wright, Emma ; Chatfield, K ; Elefteriou, F ; Elgersma, Y ; Fischer, MJ ; Franz, D ; Gelb, Bruce ; Goriely, Anne ; Gripp, KW ; Hardan, A ; Keppler-Noreuil , K ; Kerr, B ; Korf, B ; Leoni, C ; McCormick, Frank ; Plotkin, S ; Rauen, KA ; Reilly, K ; Roberts, A ; Sandler, A ; Siegel, D ; Walsh, K ; Widemann, BC. / The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. I: American Journal of Medical Genetics. Part A. 2016 ; Bind 170, Nr. 8. s. 1959-1966.

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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–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, Mitogen-Activated Protein Kinases/genetics, Signal Transduction, Genetic Diseases, Inborn/diagnosis, Humans, Intersectoral Collaboration, Clinical Trials as Topic, ras Proteins/genetics, Capital Financing, Family",

author = "Stevenson, {David A} and Lisa Schill and Lisa Schoyer and Andresen, {Brage Storstein} and A Bakker and P Bayrak-Toydemir and Emma Burkitt-Wright and K Chatfield and F Elefteriou and Y Elgersma and MJ Fischer and D Franz and Bruce Gelb and Anne Goriely and KW Gripp and A Hardan and K Keppler-Noreuil and B Kerr and B Korf and C Leoni and Frank McCormick and S Plotkin and KA Rauen and K Reilly and A Roberts and A Sandler and D Siegel and K Walsh and BC Widemann",

year = "2016",

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

language = "English",

volume = "170",

pages = "1959--1966",

journal = "American Journal of Medical Genetics. Part A",

issn = "1552-4825",

publisher = "JohnWiley & Sons, Inc.",

number = "8",

note = "4th International RASopathies Symposium ; Conference date: 17-07-2015 Through 19-07-2016",

}

Stevenson, DA, Schill, L, Schoyer , L, Andresen, BS, Bakker, A, Bayrak-Toydemir, P, Burkitt-Wright, E, Chatfield, K, Elefteriou, F, Elgersma, Y, Fischer, MJ, Franz, D, Gelb, B, Goriely, A, Gripp, KW, Hardan, A, Keppler-Noreuil , K, Kerr, B, Korf, B, Leoni, C, McCormick, F, Plotkin, S, 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, bind 170, nr. 8, s. 1959-1966. https://doi.org/10.1002/ajmg.a.37723

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway. / Stevenson, David A; Schill, Lisa ; Schoyer , Lisa; Andresen, Brage Storstein; Bakker, A; Bayrak-Toydemir, P; Burkitt-Wright, Emma; Chatfield, K; Elefteriou, F; Elgersma, Y; Fischer, MJ; Franz, D; Gelb, Bruce; Goriely, Anne; Gripp, KW; Hardan, A; Keppler-Noreuil , K; Kerr, B; Korf, B; Leoni, C; McCormick, Frank; Plotkin, S; Rauen, KA; Reilly, K; Roberts, A; Sandler, A; Siegel, D; Walsh, K; Widemann, BC.

I: American Journal of Medical Genetics. Part A, Bind 170, Nr. 8, 2016, s. 1959-1966.

Publikation: Bidrag til tidsskrift › Konferenceartikel › Forskning › peer review

TY - GEN

T1 - The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway

AU - Stevenson, David A

AU - Schill, Lisa

AU - Schoyer , Lisa

AU - Andresen, Brage Storstein

AU - Bakker, A

AU - Bayrak-Toydemir, P

AU - Burkitt-Wright, Emma

AU - Chatfield, K

AU - Elefteriou, F

AU - Elgersma, Y

AU - Fischer, MJ

AU - Franz, D

AU - Gelb, Bruce

AU - Goriely, Anne

AU - Gripp, KW

AU - Hardan, A

AU - Keppler-Noreuil , K

AU - Kerr, B

AU - Korf, B

AU - Leoni, C

AU - McCormick, Frank

AU - Plotkin, S

AU - Rauen, KA

AU - Reilly, K

AU - Roberts, A

AU - Sandler, A

AU - Siegel, D

AU - Walsh, K

AU - Widemann, BC

PY - 2016

Y1 - 2016

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

KW - Mitogen-Activated Protein Kinases/genetics

KW - Signal Transduction

KW - Genetic Diseases, Inborn/diagnosis

KW - Humans

KW - Intersectoral Collaboration

KW - Clinical Trials as Topic

KW - ras Proteins/genetics

KW - Capital Financing

KW - Family

U2 - 10.1002/ajmg.a.37723

DO - 10.1002/ajmg.a.37723

M3 - Conference article

C2 - 27155140

VL - 170

SP - 1959

EP - 1966

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

SN - 1552-4825

IS - 8

T2 - 4th International RASopathies Symposium

Y2 - 17 July 2015 through 19 July 2016

ER -

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

Abstrakt

Konference

Dokumenter og links

Fingeraftryk

Citationsformater