CRS4

Publications de Palagano au CRS4


Modifier la recherche Format imprimable Votre sélection


8 publications Download the selection

Publications en 2018
Peer-reviewed publications in International Journals
[2-PZP18] [Add to your selection]
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1
Eleonora Palagano, Giulia Zuccarini, Paolo Prontera, ..., Paolo Uva, Manuela Oppo, Paolo Vezzoni, Anna Villa, Giorgio Merlo, Cristina Sobacchi
Bone - june 2018  doi: 10.1016/j.bone.2018.06.013
 
Publications en 2017
Peer-reviewed publications in International Journals
[2-PSU17] [Add to your selection]
Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene
Eleonora Palagano, Mary Slatter, Paolo Uva, Ciro Menale, Anna Villa, Mario Abinun, Cristina Sobacchi
Bone - january 2017  doi: 10.1016/j.bone.2017.01.012
Various talks, works and publications
[6-PSM17] [Add to your selection]
Understanding the genetic basis of Acrofrontofacionasal Dysostosis 1
Eleonora Palagano, Dario Strina, Ciro Menale, Stefano Mantero, Paolo Prontera, Maria Leine Guion-Almeida, Paolo Uva, Andrea Angius, Anna Villa, Cristina Sobacchi
Poster presentation at Telethon Meeting, Marzo 2017, Riva del Garda - march 2017
 
Publications en 2016
Peer-reviewed publications in International Journals
[2-PSM16] [Add to your selection]
Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis
Eleonora Palagano, Lucia Susani, Ciro Menale, Ugo Ramenghi, Massimo Berger, Paolo Uva, Manuela Oppo, Paolo Vezzoni, Anna Villa, Cristina Sobacchi
Journal of Bone and Mineral Research - 2016  doi: 10.1002/jbmr.2929
Peer-reviewed publications in international events
[4-PZM16] [Add to your selection]
NBAS is the gene mutated in two patients affected by Acrofrontofacionasal Dysostosis type 1
Eleonora Palagano, Giulia Zuccarini, Stefano Mantero, Daniele Conte, Andrea Angius, Paolo Uva, Paolo Prontera, Paolo Vezzoni, Anna Villa, Giorgio Merlo, Cristina Sobacchi
43rd Annual European Calcified Tissue Society Congress - april 2016  doi: 10.1530/boneabs.5.P244
 
Publications en 2015
Peer-reviewed publications in International Journals
[2-PBP15] [Add to your selection]
Buried in the Middle, But Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis
Eleonora Palagano, Harry C. Blair, Alessandra Pangrazio, Irina Tourkova, Dario Strina, Andrea Angius, Gianmauro Cuccuru, Manuela Oppo, Paolo Uva, Wim Van Hul, Eveline Boudin, Andrea Superti-Furga, Flavio Faletra, Agostino Nocerino, Matteo C. Ferrari, Marta Monari, Alessandro Montanelli, Paolo Vezzoni, Anna Villa, Cristina Sobacchi
Journal of Bone and Mineral Research Wiley - 2015  doi: 10.1002/jbmr.2517
Various talks, works and publications
[6-PSM15] [Add to your selection]
Understanding the genetic basis of Acrofrontofacionasal Dysostosis 1
Eleonora Palagano, Dario Strina, Ciro Menale, Stefano Mantero, Paolo Prontera, Maria Leine Guion-Almeida, Paolo Uva, Andrea Angius, Gianmauro Cuccuru, Manuela Oppo, Anna Villa, Cristina Sobacchi
Poster presentation at Telethon Convention, Riva del Garda, March 9-11, 2015 - march 2015
 
Publications en 2014
Various talks, works and publications
[6-PPS14] [Add to your selection]
New insights on bone biology from exome sequencing of osteopetrotic patients with atypical presentations
Eleonora Palagano, Alessandra Pangrazio, Dario Strina, Alessandro Puddu, Manuela Oppo, Maria Valentini, Paolo Uva, Gianmauro Cuccuru, Andrea Angius, Paolo Vezzoni, Anna Villa, Cristina Sobacchi
Invited talk at 5th International Conference on Osteoimmunology: Interactions of the Immune and Skeletal Systems, Kos, Greece, June 15-20 - 2014

8 publications Download the selection