Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Bhaswati Pandit; Anna Sarkozy; Len A. Pennacchio; Claudio Carta; Kimihiko Oishi; Simone Martinelli; Edgar A. Pogna; Wendy Schackwitz; Anna Ustaszewska; Andrew Landstrom; J. Martijn Bos; Steve R. Ommen; Giorgia Esposito; Francesca Lepri; Christian Faul; Peter Mundel; Juan P. López Siguero; Romano Tenconi; Angelo Selicorni; Cesare Rossi; Laura Mazzanti; Isabella Torrente; Bruno Marino; Maria C. Digilio; Giuseppe Zampino; Michael J. Ackerman; Bruno Dallapiccola; Marco Tartaglia; Bruce D. Gelb

doi:10.1038/ng2073

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

Bhaswati Pandit, Anna Sarkozy, Len A. Pennacchio, Claudio Carta, Kimihiko Oishi, Simone Martinelli, Edgar A. Pogna, Wendy Schackwitz, Anna Ustaszewska, Andrew Landstrom, J. Martijn Bos, Steve R. Ommen, Giorgia Esposito, Francesca Lepri, Christian Faul, Peter Mundel, Juan P. López Siguero, Romano Tenconi, Angelo Selicorni, Cesare RossiLaura Mazzanti, Isabella Torrente, Bruno Marino, Maria C. Digilio, Giuseppe Zampino, Michael J. Ackerman, Bruno Dallapiccola, Marco Tartaglia, Bruce D. Gelb

Risultato della ricerca: Contributo in rivista › Articolo in rivista

482 Citazioni (Scopus)

Lingua originale	English
pagine (da-a)	1007-1012
Numero di pagine	6
Rivista	Nature Genetics
DOI	https://doi.org/10.1038/ng2073
Stato di pubblicazione	Pubblicato - 2007

Keywords

LEOPARD syndrome
Noonan syndrome
RAF1 mutation
hypertrophic cardiomyopathy

Accesso al documento

10.1038/ng2073

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Cita questo

Pandit, B., Sarkozy, A., Pennacchio, L. A., Carta, C., Oishi, K., Martinelli, S., Pogna, E. A., Schackwitz, W., Ustaszewska, A., Landstrom, A., Bos, J. M., Ommen, S. R., Esposito, G., Lepri, F., Faul, C., Mundel, P., López Siguero, J. P., Tenconi, R., Selicorni, A., ... Gelb, B. D. (2007). Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nature Genetics, 1007-1012. https://doi.org/10.1038/ng2073

@article{12b5d60ecb1840f58ac9c265f26d4f7b,

title = "Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy",

keywords = "LEOPARD syndrome, Noonan syndrome, RAF1 mutation, hypertrophic cardiomyopathy, LEOPARD syndrome, Noonan syndrome, RAF1 mutation, hypertrophic cardiomyopathy",

author = "Bhaswati Pandit and Anna Sarkozy and Pennacchio, {Len A.} and Claudio Carta and Kimihiko Oishi and Simone Martinelli and Pogna, {Edgar A.} and Wendy Schackwitz and Anna Ustaszewska and Andrew Landstrom and Bos, {J. Martijn} and Ommen, {Steve R.} and Giorgia Esposito and Francesca Lepri and Christian Faul and Peter Mundel and {L{\'o}pez Siguero}, {Juan P.} and Romano Tenconi and Angelo Selicorni and Cesare Rossi and Laura Mazzanti and Isabella Torrente and Bruno Marino and Digilio, {Maria C.} and Giuseppe Zampino and Ackerman, {Michael J.} and Bruno Dallapiccola and Marco Tartaglia and Gelb, {Bruce D.}",

year = "2007",

doi = "10.1038/ng2073",

language = "English",

pages = "1007--1012",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature America Incorporated:345 Park Avenue South, 6th Floor:New York, NY 10010:(888)331-6288, EMAIL: institutions@natureny.com, INTERNET: http://www.nature.com, Fax: (212)689-9108",

}

Pandit, B, Sarkozy, A, Pennacchio, LA, Carta, C, Oishi, K, Martinelli, S, Pogna, EA, Schackwitz, W, Ustaszewska, A, Landstrom, A, Bos, JM, Ommen, SR, Esposito, G, Lepri, F, Faul, C, Mundel, P, López Siguero, JP, Tenconi, R, Selicorni, A, Rossi, C, Mazzanti, L, Torrente, I, Marino, B, Digilio, MC, Zampino, G, Ackerman, MJ, Dallapiccola, B, Tartaglia, M & Gelb, BD 2007, 'Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy', Nature Genetics, pagg. 1007-1012. https://doi.org/10.1038/ng2073

TY - JOUR

T1 - Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

AU - Pandit, Bhaswati

AU - Sarkozy, Anna

AU - Pennacchio, Len A.

AU - Carta, Claudio

AU - Oishi, Kimihiko

AU - Martinelli, Simone

AU - Pogna, Edgar A.

AU - Schackwitz, Wendy

AU - Ustaszewska, Anna

AU - Landstrom, Andrew

AU - Bos, J. Martijn

AU - Ommen, Steve R.

AU - Esposito, Giorgia

AU - Lepri, Francesca

AU - Faul, Christian

AU - Mundel, Peter

AU - López Siguero, Juan P.

AU - Tenconi, Romano

AU - Selicorni, Angelo

AU - Rossi, Cesare

AU - Mazzanti, Laura

AU - Torrente, Isabella

AU - Marino, Bruno

AU - Digilio, Maria C.

AU - Zampino, Giuseppe

AU - Ackerman, Michael J.

AU - Dallapiccola, Bruno

AU - Tartaglia, Marco

AU - Gelb, Bruce D.

PY - 2007

Y1 - 2007

KW - LEOPARD syndrome

KW - Noonan syndrome

KW - RAF1 mutation

KW - hypertrophic cardiomyopathy

KW - LEOPARD syndrome

KW - Noonan syndrome

KW - RAF1 mutation

KW - hypertrophic cardiomyopathy

UR - http://hdl.handle.net/10807/37023

U2 - 10.1038/ng2073

DO - 10.1038/ng2073

M3 - Article

SN - 1061-4036

SP - 1007

EP - 1012

JO - Nature Genetics

JF - Nature Genetics

ER -