GERMLINE BRAF MUTATIONS IN NOONAN, LEOPARD, AND CARDIOFACIOCUTANEOUS SYNDROMES: MOLECULAR DIVERSITY AND ASSOCIATED PHENOTYPIC SPECTRUM

Giuseppe Zampino; Marco Tartaglia; Anna Sarkozy; Claudio Carta; Sonia Moretti; Maria C. Digilio; Francesca Pantaleoni; Anna Paola Scioletti; Giorgia Esposito; Viviana Cordeddu; Francesca Lepri; Valentina Petrangeli; Maria L. Dentici; Grazia M. S. Mancini; Angelo Selicorni; Cesare Rossi; Laura Mazzanti; Bruno Marino; Giovanni B. Ferrero; Margherita Cirillo Silengo; Luigi Memo; Franco Stanzial; Francesca Faravelli; Liborio Stuppia; Efisio Puxeddu; Bruce D. Gelb; Bruno Dallapiccola

GERMLINE BRAF MUTATIONS IN NOONAN, LEOPARD, AND CARDIOFACIOCUTANEOUS SYNDROMES: MOLECULAR DIVERSITY AND ASSOCIATED PHENOTYPIC SPECTRUM

Giuseppe Zampino, Marco Tartaglia, Anna Sarkozy, Claudio Carta, Sonia Moretti, Maria C. Digilio, Francesca Pantaleoni, Anna Paola Scioletti, Giorgia Esposito, Viviana Cordeddu, Francesca Lepri, Valentina Petrangeli, Maria L. Dentici, Grazia M. S. Mancini, Angelo Selicorni, Cesare Rossi, Laura Mazzanti, Bruno Marino, Giovanni B. Ferrero, Margherita Cirillo SilengoLuigi Memo, Franco Stanzial, Francesca Faravelli, Liborio Stuppia, Efisio Puxeddu, Bruce D. Gelb, Bruno Dallapiccola

Research output: Contribution to journal › Article

183 Citations (Scopus)

Original language	English
Pages (from-to)	695-702
Number of pages	8
Journal	Human Mutation
Volume	30 (4)
Publication status	Published - 2009

Keywords

NOONAN, LEOPARD AND CARDIOFACIOCUTANEOUS SYNDROMES

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Zampino, G., Tartaglia, M., Sarkozy, A., Carta, C., Moretti, S., Digilio, M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., Cordeddu, V., Lepri, F., Petrangeli, V., Dentici, M. L., Mancini, G. M. S., Selicorni, A., Rossi, C., Mazzanti, L., Marino, B., Ferrero, G. B., ... Dallapiccola, B. (2009). GERMLINE BRAF MUTATIONS IN NOONAN, LEOPARD, AND CARDIOFACIOCUTANEOUS SYNDROMES: MOLECULAR DIVERSITY AND ASSOCIATED PHENOTYPIC SPECTRUM. Human Mutation, 30 (4), 695-702.

Zampino, Giuseppe ; Tartaglia, Marco ; Sarkozy, Anna ; Carta, Claudio ; Moretti, Sonia ; Digilio, Maria C. ; Pantaleoni, Francesca ; Scioletti, Anna Paola ; Esposito, Giorgia ; Cordeddu, Viviana ; Lepri, Francesca ; Petrangeli, Valentina ; Dentici, Maria L. ; Mancini, Grazia M. S. ; Selicorni, Angelo ; Rossi, Cesare ; Mazzanti, Laura ; Marino, Bruno ; Ferrero, Giovanni B. ; Silengo, Margherita Cirillo ; Memo, Luigi ; Stanzial, Franco ; Faravelli, Francesca ; Stuppia, Liborio ; Puxeddu, Efisio ; Gelb, Bruce D. ; Dallapiccola, Bruno. / GERMLINE BRAF MUTATIONS IN NOONAN, LEOPARD, AND CARDIOFACIOCUTANEOUS SYNDROMES: MOLECULAR DIVERSITY AND ASSOCIATED PHENOTYPIC SPECTRUM. In: Human Mutation. 2009 ; Vol. 30 (4). pp. 695-702.

@article{828f60e9d9294d2db345be96576c3270,

title = "GERMLINE BRAF MUTATIONS IN NOONAN, LEOPARD, AND CARDIOFACIOCUTANEOUS SYNDROMES: MOLECULAR DIVERSITY AND ASSOCIATED PHENOTYPIC SPECTRUM",

keywords = "NOONAN, LEOPARD AND CARDIOFACIOCUTANEOUS SYNDROMES, NOONAN, LEOPARD AND CARDIOFACIOCUTANEOUS SYNDROMES",

author = "Giuseppe Zampino and Marco Tartaglia and Anna Sarkozy and Claudio Carta and Sonia Moretti and Digilio, {Maria C.} and Francesca Pantaleoni and Scioletti, {Anna Paola} and Giorgia Esposito and Viviana Cordeddu and Francesca Lepri and Valentina Petrangeli and Dentici, {Maria L.} and Mancini, {Grazia M. S.} and Angelo Selicorni and Cesare Rossi and Laura Mazzanti and Bruno Marino and Ferrero, {Giovanni B.} and Silengo, {Margherita Cirillo} and Luigi Memo and Franco Stanzial and Francesca Faravelli and Liborio Stuppia and Efisio Puxeddu and Gelb, {Bruce D.} and Bruno Dallapiccola",

year = "2009",

language = "English",

volume = "30 (4)",

pages = "695--702",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley & Sons Incorporated:Customer Service, 111 River Street:Hoboken, NJ 07030:(800)225-5945, (201)748-6000, EMAIL: societyinfo@wiley.com, INTERNET: http://www.wiley.com, Fax: (212)748-6551",

}

Zampino, G, Tartaglia, M, Sarkozy, A, Carta, C, Moretti, S, Digilio, MC, Pantaleoni, F, Scioletti, AP, Esposito, G, Cordeddu, V, Lepri, F, Petrangeli, V, Dentici, ML, Mancini, GMS, Selicorni, A, Rossi, C, Mazzanti, L, Marino, B, Ferrero, GB, Silengo, MC, Memo, L, Stanzial, F, Faravelli, F, Stuppia, L, Puxeddu, E, Gelb, BD & Dallapiccola, B 2009, 'GERMLINE BRAF MUTATIONS IN NOONAN, LEOPARD, AND CARDIOFACIOCUTANEOUS SYNDROMES: MOLECULAR DIVERSITY AND ASSOCIATED PHENOTYPIC SPECTRUM', Human Mutation, vol. 30 (4), pp. 695-702.

GERMLINE BRAF MUTATIONS IN NOONAN, LEOPARD, AND CARDIOFACIOCUTANEOUS SYNDROMES: MOLECULAR DIVERSITY AND ASSOCIATED PHENOTYPIC SPECTRUM. / Zampino, Giuseppe; Tartaglia, Marco; Sarkozy, Anna; Carta, Claudio; Moretti, Sonia; Digilio, Maria C.; Pantaleoni, Francesca; Scioletti, Anna Paola; Esposito, Giorgia; Cordeddu, Viviana; Lepri, Francesca; Petrangeli, Valentina; Dentici, Maria L.; Mancini, Grazia M. S.; Selicorni, Angelo; Rossi, Cesare; Mazzanti, Laura; Marino, Bruno; Ferrero, Giovanni B.; Silengo, Margherita Cirillo; Memo, Luigi; Stanzial, Franco; Faravelli, Francesca; Stuppia, Liborio; Puxeddu, Efisio; Gelb, Bruce D.; Dallapiccola, Bruno.

In: Human Mutation, Vol. 30 (4), 2009, p. 695-702.

Research output: Contribution to journal › Article

TY - JOUR

T1 - GERMLINE BRAF MUTATIONS IN NOONAN, LEOPARD, AND CARDIOFACIOCUTANEOUS SYNDROMES: MOLECULAR DIVERSITY AND ASSOCIATED PHENOTYPIC SPECTRUM

AU - Zampino, Giuseppe

AU - Tartaglia, Marco

AU - Sarkozy, Anna

AU - Carta, Claudio

AU - Moretti, Sonia

AU - Digilio, Maria C.

AU - Pantaleoni, Francesca

AU - Scioletti, Anna Paola

AU - Esposito, Giorgia

AU - Cordeddu, Viviana

AU - Lepri, Francesca

AU - Petrangeli, Valentina

AU - Dentici, Maria L.

AU - Mancini, Grazia M. S.

AU - Selicorni, Angelo

AU - Rossi, Cesare

AU - Mazzanti, Laura

AU - Marino, Bruno

AU - Ferrero, Giovanni B.

AU - Silengo, Margherita Cirillo

AU - Memo, Luigi

AU - Stanzial, Franco

AU - Faravelli, Francesca

AU - Stuppia, Liborio

AU - Puxeddu, Efisio

AU - Gelb, Bruce D.

AU - Dallapiccola, Bruno

PY - 2009

Y1 - 2009

KW - NOONAN, LEOPARD AND CARDIOFACIOCUTANEOUS SYNDROMES

UR - http://hdl.handle.net/10807/37018

M3 - Article

VL - 30 (4)

SP - 695

EP - 702

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

ER -

GERMLINE BRAF MUTATIONS IN NOONAN, LEOPARD, AND CARDIOFACIOCUTANEOUS SYNDROMES: MOLECULAR DIVERSITY AND ASSOCIATED PHENOTYPIC SPECTRUM

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