Paola Bettinaglio

All papers authored by Paola Bettinaglio

This paper was not found in any repository, but could be made available legally by the author.

2023 Paola Bettinaglio

, Viviana Tritto, Rosina Paterra, Marica Eoli, Paola Riva

Expression analysis of NF1‐mutated alleles in a rare compound heterozygous spinal NF1 patient by digital PCR

Upload

This paper is made freely available by the publisher.

2022 Rosina Paterra, Paola Bettinaglio

, Arianna Borghi

, Eleonora Mangano

, Viviana Tritto, Claudia Cesaretti

, Carla Schettino, Roberta Bordoni, Claudia Santoro

, Sabrina Avignone, Marco Moscatelli, Mariarosa Anna Beatrice Melone

, Veronica Saletti, Giulio Piluso

, Federica Natacci and 2 other authors

A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort

Download from doi.org

This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2021 Paola Bettinaglio

“NF1 mutational spectrum and candidate modifier genes in spinal and classical neurofibromatosis”. P. Bettinaglio, E. Mangano , C. Cesaretti , R. Bordoni , V. Tritto , A. Zamboni Radic , M. Volontè , C. Battaglia, V. Saletti , D. Bianchessi , M. Melone, C. Schettino , F. Natacci , M. Eoli , I.Tramacere, P. Riva.

Upload

Paola Bettinaglio

“Position effect and of modifier Ras pathway genes in Neurofibromatosis type I microdeletion syndrome”. P. Bettinaglio, V. Tritto, E. Mangano, R. Bordoni, C. Castronuovo, M. Volontè, C. Cesaretti, G. Cagnoli, C. Battaglia, V. Saletti D. Bianchessi, F. Natacci, M. Eoli, P. Riva

Upload

Paola Bettinaglio

Identification of New Pathomechanisms in Neurofibromatosis Type 1 Microdeletion Syndrome: Position Effect and Modifier Role of the RAS Pathway Genes .P.Bettinaglio, : V. Tritto , E. Mangano , R. Bordoni , C. Castronovo , M. Volontè , C. Cesaretti , G. Cagnoli, C. Battaglia, V. Saletti, D. Bianchessi , F. Natacci , M. Eoli , P. Riva

Upload

2020 Paola Bettinaglio

Candidate modifier genes in familial and sporadic spinal neurofibromatosis patients. P. Bettinaglio , M.E. Mangano, R. Bordoni , V. Tritto , C. Cesaretti, G. Cagnoli , A. Zamboni Radic, M. Volontè, C. Battaglia, V. Saletti , D. Bianchessi, M. Melone, G. Finocchiaro , C. Schettino , F. Natacci , M. Eoli, P. Riva

Upload

Paola Bettinaglio

Prevalence of NF1 missense mutations and candidate modifier genes in 12 familial and 15 sporadic spinal neurofibromatosis patients. P. Riva, E. Mangano, C. Cesaretti, P. Bettinaglio, R. Bordoni, V. Tritto, C. Battaglia, V. Saletti, D. Bianchessi, M. Marina Melone, C. Schettino, F. Natacci, M. Eoli

Upload

This paper is available in a repository.

2008 Piero Ruggenenti, Paola Bettinaglio

, Franck Pinares, Giuseppe Remuzzi

Angiotensin Converting Enzyme Insertion/Deletion Polymorphism and Renoprotection in Diabetic and Nondiabetic Nephropathies

Download from europepmc.org

2007 G. Monteferrante, S. Brioschi, J. Caprioli, G. Pianetti, P. Bettinaglio

, E. Bresin, G. Remuzzi, M. Noris

Genetic analysis of the complement factor H related 5 gene in haemolytic uraemic syndrome

Upload

2006 Marina Noris, Gaia Pianetti, Federica Castelletti, Caterina Mele, Linda Cassis, Sara Gamba, Francesca Porrati, Giuseppe Monteferrante, Celia J. Fang, M. K. Liszewski, David Kavanagh, Giuseppe Remuzzi, Simona Brioschi, Elena Bresin, Jessica Caprioli and 3 other authors

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome

Download from ashpublications.org

2005 Giuseppe Remuzzi, Piero Ruggenenti, Michele Colledan, Bruno Gridelli, Alessandro Bertani, Paola Bettinaglio

, Sara Bucchioni, Aurelio Sonzogni, Ezio Bonanomi, Valter Sonzogni, Jeffrey L. Platt, Norberto Perico, Marina Noris

Hemolytic Uremic Syndrome: A Fatal Outcome after Kidney and Liver Transplantation Performed to Correct Factor H Gene Mutation

Download from www.researchgate.net

2003 Jessica Caprioli, Federica Castelletti, Sara Bucchioni, Paola Bettinaglio

, Elena Bresin, Gaia Pianetti, Sara Gamba, Simona Brioschi, Erica Daina, Giuseppe Remuzzi, Marina Noris

Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease

Upload

2002 Paola Bettinaglio

, Andrea Galbusera, Jessica Caprioli, Silvia Orisio, Annalisa Perna, Federica Arnoldi, Sara Bucchioni, Marina Noris

Single strand conformation polymorphism (SSCP) as a quick and reliable method to genotype M235T polymorphism of angiotensinogen gene

Upload

2001 J. Caprioli, P. F. Zipfel, E. Daina, S. Gamba, C. Skerka, N. Marziliano, G. Remuzzi, M. Noris, B. Amadei, Paola Bettinaglio

The molecular basis of familial hemolytic uremic syndrome: Mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20

Download from www.researchgate.net

1970 Paola Bettinaglio

IDENTIFICATION OF NEW CANDIDATE GENES IN NOONAN SYNDROME PATIENTS WITHOUT CONVENTIONAL MOLECULAR DIAGNOSIS: LOOKING BEYOND THE RAS PATHWAY GENES Viviana Tritto1 , Eleonora Mangano2 , Maria Teresa Bonati3 , Riccardo Pizzichemi1 , Paola Bettinaglio1 , Cristina Battaglia1,2, Roberta Bordoni2 , Paola Riva1

Upload

Missing publications? Search for publications with a matching author name.

Researcher

Statistics

Refine

All papers authored by Paola Bettinaglio