NF1 gene mutations represent the major molecular event underlying Neurofibromatosis-Noonan syndrome

Alessandro De Luca; Irene Bottillo; Anna Sarkozy; Claudio Carta; Cinzia Neri; Emanuele Bellacchio; Annalisa Schirinzi; Emanuela Conti; Giuseppe Zampino; Agatino Battaglia; Silvia Majore; Maria M. Rinaldi; Massimo Carella; Bruno Marino; Antonio Pizzuti; Maria Cristina Digilio; Marco Tartaglia; Bruno Dallapiccola

doi:10.1086/498454

NF1 gene mutations represent the major molecular event underlying Neurofibromatosis-Noonan syndrome

Alessandro De Luca, Irene Bottillo, Anna Sarkozy, Claudio Carta, Cinzia Neri, Emanuele Bellacchio, Annalisa Schirinzi, Emanuela Conti, Giuseppe Zampino, Agatino Battaglia, Silvia Majore, Maria M. Rinaldi, Massimo Carella, Bruno Marino, Antonio Pizzuti, Maria Cristina Digilio, Marco Tartaglia, Bruno Dallapiccola

Risultato della ricerca: Contributo in rivista › Articolo in rivista

110 Citazioni (Scopus)

Lingua originale	English
pagine (da-a)	1092-1101
Numero di pagine	10
Rivista	American Journal of Human Genetics
DOI	https://doi.org/10.1086/498454
Stato di pubblicazione	Pubblicato - 2005

Keywords

NF1 gene mutations
Neurofibromatosis-Noonan syndrome

Accesso al documento

10.1086/498454

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De Luca, A., Bottillo, I., Sarkozy, A., Carta, C., Neri, C., Bellacchio, E., Schirinzi, A., Conti, E., Zampino, G., Battaglia, A., Majore, S., Rinaldi, M. M., Carella, M., Marino, B., Pizzuti, A., Digilio, M. C., Tartaglia, M., & Dallapiccola, B. (2005). NF1 gene mutations represent the major molecular event underlying Neurofibromatosis-Noonan syndrome. American Journal of Human Genetics, 1092-1101. https://doi.org/10.1086/498454

@article{61bdd78d6f874f7f924b9ff0f773f370,

title = "NF1 gene mutations represent the major molecular event underlying Neurofibromatosis-Noonan syndrome",

keywords = "NF1 gene mutations, Neurofibromatosis-Noonan syndrome, NF1 gene mutations, Neurofibromatosis-Noonan syndrome",

author = "{De Luca}, Alessandro and Irene Bottillo and Anna Sarkozy and Claudio Carta and Cinzia Neri and Emanuele Bellacchio and Annalisa Schirinzi and Emanuela Conti and Giuseppe Zampino and Agatino Battaglia and Silvia Majore and Rinaldi, {Maria M.} and Massimo Carella and Bruno Marino and Antonio Pizzuti and Digilio, {Maria Cristina} and Marco Tartaglia and Bruno Dallapiccola",

year = "2005",

doi = "10.1086/498454",

language = "English",

pages = "1092--1101",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

}

De Luca, A, Bottillo, I, Sarkozy, A, Carta, C, Neri, C, Bellacchio, E, Schirinzi, A, Conti, E, Zampino, G, Battaglia, A, Majore, S, Rinaldi, MM, Carella, M, Marino, B, Pizzuti, A, Digilio, MC, Tartaglia, M & Dallapiccola, B 2005, 'NF1 gene mutations represent the major molecular event underlying Neurofibromatosis-Noonan syndrome', American Journal of Human Genetics, pagg. 1092-1101. https://doi.org/10.1086/498454

TY - JOUR

T1 - NF1 gene mutations represent the major molecular event underlying Neurofibromatosis-Noonan syndrome

AU - De Luca, Alessandro

AU - Bottillo, Irene

AU - Sarkozy, Anna

AU - Carta, Claudio

AU - Neri, Cinzia

AU - Bellacchio, Emanuele

AU - Schirinzi, Annalisa

AU - Conti, Emanuela

AU - Zampino, Giuseppe

AU - Battaglia, Agatino

AU - Majore, Silvia

AU - Rinaldi, Maria M.

AU - Carella, Massimo

AU - Marino, Bruno

AU - Pizzuti, Antonio

AU - Digilio, Maria Cristina

AU - Tartaglia, Marco

AU - Dallapiccola, Bruno

PY - 2005

Y1 - 2005

KW - NF1 gene mutations

KW - Neurofibromatosis-Noonan syndrome

KW - NF1 gene mutations

KW - Neurofibromatosis-Noonan syndrome

UR - http://hdl.handle.net/10807/37019

U2 - 10.1086/498454

DO - 10.1086/498454

M3 - Article

SN - 0002-9297

SP - 1092

EP - 1101

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

ER -