Хайлтын үр дүнгүүд - Cinzia Neri
- 3-н 1 - 3 үр дүнгүүдийг харуулж байна
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1
NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome -н Alessandro De Luca, Irene Bottillo, Anna Sárközy, Claudio Carta, Cinzia Neri, Emanuele Bellacchio, Annalisa Schirinzi, Emanuela Conti, Giuseppe Zampino, Agatino Battaglia, Silvia Majore, Maria Michela Rinaldi, Massimo Carella, Bruno Marino, Antonio Pizzuti, M. Cristina Digilio, Marco Tartaglia, Bruno Dallapiccola
Хэвлэсэн 2005Artigo -
2
Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome -н Giuseppe Zampino, Francesca Pantaleoni, Claudio Carta, Gilda Cobellis, Isabella Vasta, Cinzia Neri, Edgar A. Pogna, Emma De Feo, Angelica Bibiana Delogu, Anna Sárközy, Francesca Atzeri, Angelo Selicorni, Katherine A. Rauen, Cheryl Cytrynbaum, Rosanna Weksberg, Bruno Dallapiccola, Andrea Ballabio, Bruce D. Gelb, Giovanni Neri, Marco Tartaglia
Хэвлэсэн 2006Artigo -
3
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome -н Marco Tartaglia, L Pennacchio, Chen Zhao, Kamlesh Yadav, Valentina Fodale, Anna Sárközy, Bhaswati Pandit, Kimihiko Oishi, Simone Martinelli, Wendy Schackwitz, Anna Ustaszewska, Joel Martin, James Bristow, Claudio Carta, Francesca Romana Lepri, Cinzia Neri, Isabella Vasta, Kate Gibson, Cynthia J. Curry, Juan Pedro López Siguero, M. Cristina Digilio, Giuseppe Zampino, Bruno Dallapiccola, Dafna Bar‐Sagi, Bruce D. Gelb
Хэвлэсэн 2006Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Biology
Gene
Genetics
KRAS
Missense mutation
Mutation
Noonan syndrome
Cancer research
Costello syndrome
PTPN11
Endocrinology
Exon
Germline
Germline mutation
Guanine nucleotide exchange factor
HRAS
Kinase
MAPK/ERK pathway
Neurofibromatosis
Neurofibromin 1
Phenotype
Point mutation
Short stature
Signal transduction