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Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
Published in:
Cancers, 2023, v. 15, n. 6, p. 1916, doi. 10.3390/cancers15061916
By:
- Ognibene, Marzia;
- Scala, Marcello;
- Iacomino, Michele;
- Schiavetti, Irene;
- Madia, Francesca;
- Traverso, Monica;
- Guerrisi, Sara;
- Di Duca, Marco;
- Caroli, Francesco;
- Baldassari, Simona;
- Tappino, Barbara;
- Romano, Ferruccio;
- Uva, Paolo;
- Vozzi, Diego;
- Chelleri, Cristina;
- Piatelli, Gianluca;
- Diana, Maria Cristina;
- Zara, Federico;
- Capra, Valeria;
- Pavanello, Marco
Publication type:
Article
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.
Published in:
Birth Defects Research, 2022, v. 114, n. 20, p. 1440, doi. 10.1002/bdr2.2113
By:
- Romano, Ferruccio;
- Madia, Francesca;
- De Marco, Patrizia;
- Ognibene, Marzia;
- Guerrisi, Sara;
- Scala, Marcello;
- Iacomino, Michele;
- Baldassari, Simona;
- Vercellino, Nadia;
- Manunza, Francesca;
- Tallone, Ramona;
- Pavanello, Marco;
- Piatelli, Gianluca;
- Garaventa, Alberto;
- Zara, Federico;
- Capra, Valeria
Publication type:
Article
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
Published in:
Frontiers in Molecular Neuroscience, 2024, p. 1, doi. 10.3389/fnmol.2024.1268013
By:
- Iacomino, Michele;
- Houerbi, Nadia;
- Fortuna, Sara;
- Howe, Jennifer;
- Shan Li;
- Scorrano, Giovanna;
- Riva, Antonella;
- Kai-Wen Cheng;
- Steiman, Mandy;
- Peltekova, Iskra;
- Yusuf, Afiqah;
- Baldassari, Simona;
- Tamburro, Serena;
- Scudieri, Paolo;
- Musante, Ilaria;
- Di Ludovico, Armando;
- Guerrisi, Sara;
- Balagura, Ganna;
- Corsello, Antonio;
- Efthymiou, Stephanie
Publication type:
Article
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.
Published in:
Human Mutation, 2023, p. 1, doi. 10.1155/2023/3160653
By:
- Chelleri, Cristina;
- Scala, Marcello;
- De Marco, Patrizia;
- Guerriero, Vittorio;
- Ognibene, Marzia;
- Madia, Francesca;
- Guerrisi, Sara;
- Di Duca, Marco;
- Torre, Michele;
- Tamburro, Serena;
- Scudieri, Paolo;
- Piccolo, Gianluca;
- Mattioli, Girolamo;
- Buffelli, Francesca;
- Uva, Paolo;
- Vozzi, Diego;
- Fulcheri, Ezio;
- Striano, Pasquale;
- Diana, Maria Cristina;
- Zara, Federico
Publication type:
Article

Found: 4

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.

Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.

Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.

Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.