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Featured researches published by Mario Savi.


Breast Cancer Research and Treatment | 2005

A breast cancer patient from Italy with germline mutations in both the BRCA1 and BRCA2 genes

Antonino Musolino; Nadia Naldi; Maria Michiara; Maria Angela Bella; Paola Zanelli; Beatrice Bortesi; Marzia Capelletti; Mario Savi; Tauro Maria Neri; Andrea Ardizzoni

We report the first case in Italy of a non-Ashkenazi double heterozygote for BRCA1 and BRCA2 genes. This finding is predictably rare, with a maximum frequency of 1/250,000. The proband and her mother were diagnosed with early-onset breast cancer. No other relatives with breast and/or ovarian cancer were observed. The implications of this case in regard to genetic testing and counseling are substantial.


Arthritis & Rheumatism | 2007

HLA–DRB4 as a genetic risk factor for Churg-Strauss syndrome

Augusto Vaglio; Davide Martorana; Umberto Maggiore; Chiara Grasselli; Adele Zanetti; Alberto Pesci; Giovanni Garini; Paolo Manganelli; Paolo Bottero; Bruno Tumiati; Renato Alberto Sinico; Mario Savi; Carlo Buzio; Tauro Maria Neri


American Journal of Human Genetics | 1996

X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

Alessandra Renieri; Mirella Bruttini; Lucia Galli; Paola Zanelli; Tauro Maria Neri; Sandro Rossetti; Alberto E. Turco; N. Heiskari; Jing Zhou; R. Gusmano; Laura Massella; G. Banfi; Francesco Scolari; Adalberto Sessa; Gianfranco Rizzoni; Karl Tryggvason; Pier Franco Pignatti; Mario Savi; Andrea Ballabio; M. De Marchi


The Breast | 2007

BRCA mutations, molecular markers, and clinical variables in early-onset breast cancer: A population-based study

Antonino Musolino; Maria Angela Bella; Beatrice Bortesi; Maria Michiara; Nadia Naldi; Paola Zanelli; Marzia Capelletti; Debora Pezzuolo; Roberta Camisa; Mario Savi; Tauro Maria Neri; Andrea Ardizzoni


Arthritis Care and Research | 2006

Chronic periaortitis and HLA–DRB1*03: Another clue to an autoimmune origin

Davide Martorana; Augusto Vaglio; Paolo Greco; Adele Zanetti; Gabriella Moroni; Carlo Salvarani; Mario Savi; Carlo Buzio; Tauro Maria Neri


Arthritis & Rheumatism | 1988

Hla—dr antigens and anticardiolipin antibodies in northern italian systemic lupus erythematosus patients

Mario Savi; G. F. Ferraccioli; Tauro Maria Neri; P. Zanelli; P. P. Dall'Aglio; A. Tincani; G. Balestrieri; G. Carella; R. Cattaneo


Arthritis & Rheumatism | 1989

HLA-DR antigens and anticardiolipin antibodies in patients with systemic lupus erythematosus

Neil McHugh; Peter Maddison; Mario Savi; G. F. Ferraccioli; Tauro Maria Neri; P. Zanelli; A. Tincani; Genesio Balestrieri; G. Carella; R. Cattaneo


American Journal of Medical Genetics | 1995

Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.

Alessandra Renieri; Lucia Galli; Alessandra Grillo; Mirella Bruttini; Tauro Maria Neri; Paola Zanelli; Gianfranco Rizzoni; Laura Massella; Adalberto Sessa; Mietta Meroni; Leopoldo Peratoner; Peter Riegler; Francesco Scolari; Maurizio Mileti; Marisa Giani; Maria Matilde Cossu; Mario Savi; Andrea Ballabio; Mario Marchi


JAMA Internal Medicine | 1978

Unusual Immunologic Findings in Familial Mediterranean Fever

Mario Savi; Giuliano Asinari; Vito Gaudiano; Giorgio Olivetti; Tauro Maria Neri


Tumori | 2005

Molecular profile and clinical variables in BRCA1-positive breast cancers. A population-based study.

Antonino Musolino; Maria Michiara; Maria Angela Bella; Nadia Naldi; Paola Zanelli; Beatrice Bortesi; Marzia Capelletti; Linda Soldani; Roberta Camisa; Eugenia Martella; Vittorio Franciosi; Mario Savi; Tauro Maria Neri; Andrea Ardizzoni; Stefano Cascinu

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