Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues

Katherine A. Rauen; Susan M. Huson; Emma Burkitt-Wright; D. Gareth Evans; Said Farschtschi; Rosalie E. Ferner; David H. Gutmann; C. Oliver Hanemann; Bronwyn Kerr; Eric Legius; Luis F. Parada; Michael Patton; Juha Peltonen; Nancy Ratner; Vincent M. Riccardi; der Vaart T van; Miikka Vikkula; DH Viskochi; Martin Zenker; Meena Upadhyaya

doi:10.1002/ajmg.a.36793

Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues

Katherine A. Rauen
, Susan M. Huson
, Emma Burkitt-Wright
, D. Gareth Evans
, Said Farschtschi
, Rosalie E. Ferner
, David H. Gutmann
, C. Oliver Hanemann
, Bronwyn Kerr
, Eric Legius
, Luis F. Parada
, Michael Patton
, Juha Peltonen
, Nancy Ratner
, Vincent M. Riccardi
, der Vaart T van
, Miikka Vikkula
, DH Viskochi
, Martin Zenker
, Meena Upadhyaya^*

^*Corresponding author for this work

Peninsula Medical School

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	1-10
Number of pages	0
Journal	AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume	167
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.a.36793
Publication status	Published - 2015

Keywords

capillary malformation-AV malformation syndrome
cardio-facio-cutaneous syndrome
Costello syndrome
neurofibromatosis
Noonan syndrome
Legius syndrome
Ras/MAPK
signal transduction pathway
RASopathy
therapy

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1002/ajmg.a.36793

Cite this

Rauen, K. A., Huson, S. M., Burkitt-Wright, E., Evans, D. G., Farschtschi, S., Ferner, R. E., Gutmann, D. H., Hanemann, C. O., Kerr, B., Legius, E., Parada, L. F., Patton, M., Peltonen, J., Ratner, N., Riccardi, V. M., van, D. V. T., Vikkula, M., Viskochi, DH., Zenker, M., & Upadhyaya, M. (2015). Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 167(1), 1-10. https://doi.org/10.1002/ajmg.a.36793

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title = "Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues",

keywords = "capillary malformation-AV malformation syndrome, cardio-facio-cutaneous syndrome, Costello syndrome, neurofibromatosis, Noonan syndrome, Legius syndrome, Ras/MAPK, signal transduction pathway, RASopathy, therapy",

author = "Rauen, \{Katherine A.\} and Huson, \{Susan M.\} and Emma Burkitt-Wright and Evans, \{D. Gareth\} and Said Farschtschi and Ferner, \{Rosalie E.\} and Gutmann, \{David H.\} and Hanemann, \{C. Oliver\} and Bronwyn Kerr and Eric Legius and Parada, \{Luis F.\} and Michael Patton and Juha Peltonen and Nancy Ratner and Riccardi, \{Vincent M.\} and van, \{der Vaart T\} and Miikka Vikkula and DH Viskochi and Martin Zenker and Meena Upadhyaya",

year = "2015",

doi = "10.1002/ajmg.a.36793",

language = "English",

volume = "167",

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Rauen, KA, Huson, SM, Burkitt-Wright, E, Evans, DG, Farschtschi, S, Ferner, RE, Gutmann, DH, Hanemann, CO, Kerr, B, Legius, E, Parada, LF, Patton, M, Peltonen, J, Ratner, N, Riccardi, VM, van, DVT, Vikkula, M, Viskochi, DH, Zenker, M & Upadhyaya, M 2015, 'Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues', AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol. 167, no. 1, pp. 1-10. https://doi.org/10.1002/ajmg.a.36793

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T1 - Recent Developments in Neurofibromatoses and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues

AU - Rauen, Katherine A.

AU - Huson, Susan M.

AU - Burkitt-Wright, Emma

AU - Evans, D. Gareth

AU - Farschtschi, Said

AU - Ferner, Rosalie E.

AU - Gutmann, David H.

AU - Hanemann, C. Oliver

AU - Kerr, Bronwyn

AU - Legius, Eric

AU - Parada, Luis F.

AU - Patton, Michael

AU - Peltonen, Juha

AU - Ratner, Nancy

AU - Riccardi, Vincent M.

AU - van, der Vaart T

AU - Vikkula, Miikka

AU - Viskochi, DH

AU - Zenker, Martin

AU - Upadhyaya, Meena

PY - 2015

Y1 - 2015

KW - capillary malformation-AV malformation syndrome

KW - cardio-facio-cutaneous syndrome

KW - Costello syndrome

KW - neurofibromatosis

KW - Noonan syndrome

KW - Legius syndrome

KW - Ras/MAPK

KW - signal transduction pathway

KW - RASopathy

KW - therapy

U2 - 10.1002/ajmg.a.36793

DO - 10.1002/ajmg.a.36793

M3 - Article

SN - 1552-4825

VL - 167

SP - 1

EP - 10

JO - AMERICAN JOURNAL OF MEDICAL GENETICS PART A

JF - AMERICAN JOURNAL OF MEDICAL GENETICS PART A

IS - 1

ER -