Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome

Giuseppe Zampino; Francesca Pantaleoni; Claudio Carta; Gilda Cobellis; Isabella Vasta; Cinzia Neri; Edgar A. Pogna; Emma De Feo; Angelica Bibiana Delogu; Anna Sarkozy; Francesca Atzeri; Angelo Selicorni; Katherine A. Rauen; Cheryl S. Cytrynbaum; Rosanna Weksberg; Bruno Dallapiccola; Andrea Ballabio; Bruce D. Gelb; Giovanni Neri; Marco Tartaglia

doi:10.1002/humu.20431

Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome

Giuseppe Zampino
, Francesca Pantaleoni
, Claudio Carta
, Gilda Cobellis
, Isabella Vasta
, Cinzia Neri
, Edgar A. Pogna
, Emma De Feo
, Angelica Bibiana Delogu
, Anna Sarkozy
, Francesca Atzeri
, Angelo Selicorni
, Katherine A. Rauen
, Cheryl S. Cytrynbaum
, Rosanna Weksberg
, Bruno Dallapiccola
, Andrea Ballabio
, Bruce D. Gelb
, Giovanni Neri
, Marco Tartaglia

Istituto Superiore di Sanita
University of Naples Federico II
IRCCS Ospedale Casa Sollievo della Sofferenza - San Giovanni Rotondo (FG)
University of Milan
University of California at San Francisco
University of Toronto
Icahn School of Medicine at Mount Sinai

Risultato della ricerca: Contributo in rivista › Articolo

97 Citazioni (Scopus)

Lingua originale	Inglese
pagine (da-a)	265-272
Numero di pagine	8
Rivista	Human Mutation
DOI	https://doi.org/10.1002/humu.20431
Stato di pubblicazione	Pubblicato - 2007

Keywords

Costello syndrome
HRAS de novo

Accesso al documento

10.1002/humu.20431

Altri file e collegamenti

Link a IRIS PubliCatt

Cita questo

Zampino, G., Pantaleoni, F., Carta, C., Cobellis, G., Vasta, I., Neri, C., Pogna, E. A., De Feo, E., Delogu, A. B., Sarkozy, A., Atzeri, F., Selicorni, A., Rauen, K. A., Cytrynbaum, C. S., Weksberg, R., Dallapiccola, B., Ballabio, A., Gelb, B. D., Neri, G., & Tartaglia, M. (2007). Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome. Human Mutation, 265-272. https://doi.org/10.1002/humu.20431

@article{8949516c198e4617b0bae9b5b08547f9,

title = "Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome",

keywords = "Costello syndrome, HRAS de novo, Costello syndrome, HRAS de novo",

author = "Giuseppe Zampino and Francesca Pantaleoni and Claudio Carta and Gilda Cobellis and Isabella Vasta and Cinzia Neri and Pogna, \{Edgar A.\} and \{De Feo\}, Emma and Delogu, \{Angelica Bibiana\} and Anna Sarkozy and Francesca Atzeri and Angelo Selicorni and Rauen, \{Katherine A.\} and Cytrynbaum, \{Cheryl S.\} and Rosanna Weksberg and Bruno Dallapiccola and Andrea Ballabio and Gelb, \{Bruce D.\} and Giovanni Neri and Marco Tartaglia",

year = "2007",

doi = "10.1002/humu.20431",

language = "English",

pages = "265--272",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "John Wiley and Sons Inc.",

}

Zampino, G, Pantaleoni, F, Carta, C, Cobellis, G, Vasta, I, Neri, C, Pogna, EA, De Feo, E, Delogu, AB, Sarkozy, A, Atzeri, F, Selicorni, A, Rauen, KA, Cytrynbaum, CS, Weksberg, R, Dallapiccola, B, Ballabio, A, Gelb, BD, Neri, G & Tartaglia, M 2007, 'Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome', Human Mutation, pagg. 265-272. https://doi.org/10.1002/humu.20431

TY - JOUR

T1 - Diversity parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome

AU - Zampino, Giuseppe

AU - Pantaleoni, Francesca

AU - Carta, Claudio

AU - Cobellis, Gilda

AU - Vasta, Isabella

AU - Neri, Cinzia

AU - Pogna, Edgar A.

AU - De Feo, Emma

AU - Delogu, Angelica Bibiana

AU - Sarkozy, Anna

AU - Atzeri, Francesca

AU - Selicorni, Angelo

AU - Rauen, Katherine A.

AU - Cytrynbaum, Cheryl S.

AU - Weksberg, Rosanna

AU - Dallapiccola, Bruno

AU - Ballabio, Andrea

AU - Gelb, Bruce D.

AU - Neri, Giovanni

AU - Tartaglia, Marco

PY - 2007

Y1 - 2007

KW - Costello syndrome

KW - HRAS de novo

KW - Costello syndrome

KW - HRAS de novo

UR - http://hdl.handle.net/10807/37025

U2 - 10.1002/humu.20431

DO - 10.1002/humu.20431

M3 - Article

SN - 1059-7794

SP - 265

EP - 272

JO - Human Mutation

JF - Human Mutation

ER -