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

B. Pandit; A. Sarkozy; L. A. Pennacchio; C. Carta; K. Oishi; S. Martinelli; E. A. Pogna; W. Schackwitz; A. Ustaszewska; A. Landstrom; J. M. Bos; S. R. Ommen; G. Esposito; F. Lepri; C. Faul; P. Mundel; J. P. Lopez Siguero; Romano Tenconi; A. Selicorni; C. Rossi; L. Mazzanti; I. Torrente; Bruno Marino; M. C. Digilio; Giuseppe Zampino; M. J. Ackerman; Bruno Dallapiccola; Marco Tartaglia; B. T. Gelb

doi:10.1038/ng2073

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

B. Pandit
, A. Sarkozy
, L. A. Pennacchio
, C. Carta
, K. Oishi
, S. Martinelli
, E. A. Pogna
, W. Schackwitz
, A. Ustaszewska
, A. Landstrom
, J. M. Bos
, S. R. Ommen
, G. Esposito
, F. Lepri
, C. Faul
, P. Mundel
, J. P. Lopez Siguero
, Romano Tenconi
, A. Selicorni
, C. Rossi

L. Mazzanti, I. Torrente, Bruno Marino, M. C. Digilio, Giuseppe Zampino, M. J. Ackerman, Bruno Dallapiccola, Marco Tartaglia^*, B. T. Gelb

^*Corresponding author

University of Padua
University of Rome La Sapienza
Ospedale C.S.S. San Giovanni Rotondo
Icahn School of Medicine at Mount Sinai
Istituto Superiore di Sanita

Research output: Contribution to journal › Article

482 Citations (Scopus)

Original language	English
Pages (from-to)	1007-1012
Number of pages	6
Journal	Nature Genetics
Issue number	39 (8)
DOIs	https://doi.org/10.1038/ng2073
Publication status	Published - 2007

All Science Journal Classification (ASJC) codes

Genetics

Keywords

LEOPARD syndrome
Noonan syndrome
RAF1 mutation
hypertrophic cardiomyopathy

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10.1038/ng2073

Cite this

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., Lopez Siguero, J. P., Tenconi, R., Selicorni, A., ... Gelb, B. T. (2007). Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nature Genetics, (39 (8)), 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 = "B. Pandit and A. Sarkozy and Pennacchio, \{L. A.\} and C. Carta and K. Oishi and S. Martinelli and Pogna, \{E. A.\} and W. Schackwitz and A. Ustaszewska and A. Landstrom and Bos, \{J. M.\} and Ommen, \{S. R.\} and G. Esposito and F. Lepri and C. Faul and P. Mundel and \{Lopez Siguero\}, \{J. P.\} and Romano Tenconi and A. Selicorni and C. Rossi and L. Mazzanti and I. Torrente and Bruno Marino and Digilio, \{M. C.\} and Giuseppe Zampino and Ackerman, \{M. J.\} and Bruno Dallapiccola and Marco Tartaglia and Gelb, \{B. T.\}",

year = "2007",

doi = "10.1038/ng2073",

language = "English",

pages = "1007--1012",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "39 (8)",

}

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, Lopez 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, BT 2007, 'Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy', Nature Genetics, no. 39 (8), pp. 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, B.

AU - Sarkozy, A.

AU - Pennacchio, L. A.

AU - Carta, C.

AU - Oishi, K.

AU - Martinelli, S.

AU - Pogna, E. A.

AU - Schackwitz, W.

AU - Ustaszewska, A.

AU - Landstrom, A.

AU - Bos, J. M.

AU - Ommen, S. R.

AU - Esposito, G.

AU - Lepri, F.

AU - Faul, C.

AU - Mundel, P.

AU - Lopez Siguero, J. P.

AU - Tenconi, Romano

AU - Selicorni, A.

AU - Rossi, C.

AU - Mazzanti, L.

AU - Torrente, I.

AU - Marino, Bruno

AU - Digilio, M. C.

AU - Zampino, Giuseppe

AU - Ackerman, M. J.

AU - Dallapiccola, Bruno

AU - Tartaglia, Marco

AU - Gelb, B. T.

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 - https://publicatt.unicatt.it/handle/10807/37023

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UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=34547530823&origin=inward

U2 - 10.1038/ng2073

DO - 10.1038/ng2073

M3 - Article

SN - 1061-4036

SP - 1007

EP - 1012

JO - Nature Genetics

JF - Nature Genetics

IS - 39 (8)

ER -

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

All Science Journal Classification (ASJC) codes

Keywords

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