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Mario De Marchi

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Maria Carmela Epistolato; Theodora Hadjistilianou; Gabriella Livide; Annabella Marozza; Maria Antonietta Mencarelli; Alessandra Renieri; Paolo Toti; Antonio Acquaviva; Mariangela Amenduni; Francesca Ariani; Paola Berchialla; Francesco Cetta; Sonia De Francesco; Mario De Marchi; Vittoria Disciglio; Daniela Giachino
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.
Innocenzo Rainero; Luca Ostacoli; Elisa Rubino; Salvatore Gallone; Pierpaola Fenoglio; Elisa Negro; Carlo Rosso; Paola De Martino; Mario De Marchi; Pier Maria Furlan; Luigi Rocco Picci; Lorenzo Pinessi
Association between major mood disorders and the hypocretin receptor 1 gene.
Valentina Turinetto; Paola Porcedda; Valentina Minieri; Luca Orlando; Erica Lantelme; Lisa Accomasso; Antonio Amoroso; Mario De Marchi; Laura Zannini; Domenico Delia; Claudia Giachino
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells.

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All Publications

2011: Maria Carmela Epistolato; Theodora Hadjistilianou; Gabriella Livide; Annabella Marozza; Maria Antonietta Mencarelli; Alessandra Renieri; Paolo Toti; Antonio Acquaviva; Mariangela Amenduni; Francesca Ariani; Paola Berchialla; Francesco Cetta; Sonia De Francesco; Mario De Marchi; Vittoria Disciglio; Daniela Giachino
p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.
Journal of human genetics 2011;56(9):685-6.
2011: Innocenzo Rainero; Luca Ostacoli; Elisa Rubino; Salvatore Gallone; Pierpaola Fenoglio; Elisa Negro; Carlo Rosso; Paola De Martino; Mario De Marchi; Pier Maria Furlan; Luigi Rocco Picci; Lorenzo Pinessi
Association between major mood disorders and the hypocretin receptor 1 gene.
Journal of affective disorders 2011;130(3):487-91.
2010: Valentina Turinetto; Paola Porcedda; Valentina Minieri; Luca Orlando; Erica Lantelme; Lisa Accomasso; Antonio Amoroso; Mario De Marchi; Laura Zannini; Domenico Delia; Claudia Giachino
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells.
DNA repair 2010;9(11):1200-8.
2010: Angela Robbiano; Vladimir Frecer; Jan Miertus; Cristina Zadro; Sheila Ulivi; Elena Bevilacqua; Giorgia Mandrile; Mario De Marchi; Stanislav Miertus; Antonio Amoroso
Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.
Journal of nephrology 2010;23(6):667-76.
2009: Paola Porcedda; Valentina Turinetto; Luca Orlando; Erica Lantelme; Alfredo Brusco; Mario De Marchi; Antonio Amoroso; Umberto Ricardi; Dario Gregori; Claudia Giachino
Two-tier analysis of histone H2AX phosphorylation allows the identification of Ataxia Telangiectasia heterozygotes.
Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2009;92(1):133-7.
2009: Valentina Turinetto; Paola Porcedda; Luca Orlando; Mario De Marchi; Antonio Amoroso; Claudia Giachino
The cyclin-dependent kinase inhibitor 5, 6-dichloro-1-beta-D-ribofuranosylbenzimidazole induces nongenotoxic, DNA replication-independent apoptosis of normal and leukemic cells, regardless of their p53 status.
BMC cancer 2009;9():281.
2009: Leonardo Punzi; Antonio Furlan; Marta Podswiadek; Alessandra Gava; Marialuisa Valente; Mario De Marchi; Andrea Peserico
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review.
Autoimmunity reviews 2009;8(3):228-32.
2008: Franca Gerosa; Barbara Baldani-Guerra; Lyudmila A Lyakh; Giovanna Batoni; Semih Esin; Robin T Winkler-Pickett; Maria Rita Consolaro; Mario De Marchi; Daniela Giachino; Angela Robbiano; Marco Astegiano; Angela Sambataro; Robert A Kastelein; Giuseppe Carra; Giorgio Trinchieri
Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells.
The Journal of experimental medicine 2008;205(6):1447-61.
2008: Erica Lantelme; Luca Orlando; Paola Porcedda; Valentina Turinetto; Mario De Marchi; Antonio Amoroso; Stefania Mantovani; Claudia Giachino
An in vitro model of T cell receptor revision in mature human CD8+ T cells.
Molecular immunology 2008;45(2):328-37.
2007: Daniela Giachino; Silvia Regazzoni; Marco Bardessono; Mario De Marchi; Dario Gregori
Modeling the role of genetic factors in characterizing extra-intestinal manifestations in Crohn's disease patients: does this improve outcome predictions?
Current medical research and opinion 2007;23(7):1657-65.
2006: Paola Porcedda; Valentina Turinetto; Erica Lantelme; Enrico Fontanella; Krystyna Chrzanowska; Riccardo Ragona; Mario De Marchi; Domenico Delia; Claudia Giachino
Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome.
DNA repair 2006;5(8):904-13.
2005: Marjan van Duist; Mario Albrecht; Marta Podswiadek; Daniela Giachino; Thomas Lengauer; Leonardo Punzi; Mario De Marchi
A new CARD15 mutation in Blau syndrome.
European journal of human genetics : EJHG 2005;13(6):742-7.
2004: Daniela Giachino; Marjan van Duist; Silvia Regazzoni; Dario Gregori; Marco Bardessono; Paola Salacone; Nadia Scaglione; Raffaello Sostegni; Nicoletta Sapone; Francesca Bresso; Angela Sambataro; Ezio Gaia; Angelo Pera; Marco Astegiano; Mario De Marchi
Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients.
European journal of human genetics : EJHG 2004;12(3):206-12.
2003: Erica Lantelme; Valentina Turinetto; Stefania Mantovani; Antonietta Marchi; Silvia Regazzoni; Paola Porcedda; Mario De Marchi; Claudia Giachino
Analysis of secondary V(D)J rearrangements in mature, peripheral T cells of ataxia-telangiectasia heterozygotes.
Laboratory investigation; a journal of technical methods and pathology 2003;83(10):1467-75.
2003: Jean-Philippe jais; bertrand knebelmann; Iannis Giatras; Mario De Marchi; Gianfranco Rizzoni; Alessandra Renieri; Manfred Weber; Oliver Gross; Kai-Olaf Netzer; Frances Flinter; Yves Pirson; Karin Dahan; Jörgen Wieslander; Ulf Persson; Karl Tryggvason; Paula Martin; Jens Michael Hertz; Cornelis Schröder; Marek Sanak; Maria Fernanda Carvalho; Juan Saus; Corinne Antignac; Hubert Smeets; Marie-Claire Gubler
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.
Journal of the American Society of Nephrology : JASN 2003;14(10):2603-10.
2002: Gianna Mazzucco; Mario De Marchi; Guido Monga
Renal biopsy interpretation in Alport Syndrome.
Seminars in diagnostic pathology 2002;19(3):133-45.
2002: Ilaria Longo; Paola Porcedda; Francesca Mari; Daniela Giachino; Ilaria Meloni; Carla Deplano; Alfredo Brusco; Maurizio Bosio; Laura Massella; Giancarlo Lavoratti; Dario Roccatello; Giovanni Frascá; Gianna Mazzucco; Andrea Onetti Muda; Maura Conti; Federica Fasciolo; Christelle Arrondel; Laurence Heidet; Alessandra Renieri; Mario De Marchi
COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
Kidney international 2002;61(6):1947-56.
2001: Paola Barsotti; Andrea Onetti Muda; Gianna Mazzucco; Laura Massella; Bruno Basolo; Mario De Marchi; Gianfranco Rizzoni; Guido Monga; Tullio Faraggiana
Distribution of alpha-chains of type IV collagen in glomerular basement membranes with ultrastructural alterations suggestive of Alport syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2001;16(5):945-52.
2000: Jean-Philippe jais; bertrand knebelmann; I Giatras; Mario De Marchi; Gianfranco Rizzoni; Alessandra Renieri; M Weber; Oliver Gross; Kai-Olaf Netzer; Frances Flinter; Yves Pirson; C Verellen; Jörgen Wieslander; Ulf Persson; Karl Tryggvason; P Martin; Jens Michael Hertz; C Schröder; Marek Sanak; S Krejcova; M F Carvalho; Juan Saus; Corinne Antignac; H Smeets; Marie-Claire Gubler
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
Journal of the American Society of Nephrology : JASN 2000;11(4):649-57.
1999: A Nardacchione; Laura Orsi; Alfredo Brusco; A Franco; Enrico Grosso; Elisa Dragone; Paolo Mortara; D Schiffer; Mario De Marchi
Definition of the smallest pathological CAG expansion in SCA7.
Clinical genetics 1999;56(3):232-4.
1999: Yoav Segal; Bernard Peissel; Alessandra Renieri; Mario De Marchi; A Ballabio; Y Pei; Jing Zhou
LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.
American journal of human genetics 1999;64(1):62-9.
1998: Gianna Mazzucco; Paola Barsotti; Andrea Onetti Muda; Mirella Fortunato; M Mihatsch; L Torri-Tarelli; Alessandra Renieri; Tullio Faraggiana; Mario De Marchi; Guido Monga
Ultrastructural and immunohistochemical findings in Alport's syndrome: a study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations.
Journal of the American Society of Nephrology : JASN 1998;9(6):1023-31.
1998: Tauro M Neri; Paola Francesca Zanelli; giuseppe de palma; Mario Savi; S Rossetti; Alberto Turco; G F Pignatti; L Galli; Mirella Bruttini; Alessandra Renieri; R Mingarelli; A Trivelli; A R Pinciaroli; M Ragaiolo; Gianfranco Rizzoni; Mario De Marchi
Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.
Human mutation 1998;Suppl 1():S106-9.
1997: Alberto Turco; Alessandra Renieri; Mario De Marchi
Alport syndrome--is there a genotype-phenotype relationship?
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1997;12(8):1551-3.
1997: Alessandra Renieri; Mirella Bruttini; M Piccini; M Bruno; M Cecconi; M Conti; R Coppo; Angela La Manna; A Trivelli; Mario De Marchi; A Ballabio
Molecular diagnosis of Alport syndrome: the experience in Siena.
Contributions to nephrology 1997;122():132-3.
1997: Gianna Mazzucco; Paola Barsotti; Andrea Onetti Muda; Mirella Fortunato; Tullio Faraggiana; Mario De Marchi; Guido Monga
Expression of alpha (IV) chains in Alport's syndrome and its correlation with ultrastructural and genetic data.
Contributions to nephrology 1997;122():129-31.
1996: Alessandra Renieri; Mirella Bruttini; L Galli; P Zanelli; T Neri; S Rossetti; Alberto Turco; N Heiskari; J Zhou; R Gusmano; L Massella; G Banfi; F Scolari; Adalberto Sessa; Gianfranco Rizzoni; K Tryggvason; Pier Franco Pignatti; M Savi; A Ballabio; Mario De Marchi
X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
American journal of human genetics 1996;58(6):1192-204.
1996: Alessandra Renieri; Mario De Marchi
New approaches to the DNA diagnosis of Alport syndrome.
Contributions to nephrology 1996;117():183-97.
1995: Alberto Turco; S Rossetti; M O Biasi; Gianfranco Rizzoni; L Massella; N H Saarinen; Alessandra Renieri; Pier Franco Pignatti; Mario De Marchi
A novel missense mutation in exon 3 of the COL4A5 gene associated with late-onset Alport syndrome.
Clinical genetics 1995;48(5):261-3.
1994: Alessandra Renieri; L Galli; J Zhou; A Ballabio; Mario De Marchi
A Bg/II polymorphism in the COL4A6 gene.
Human molecular genetics 1994;3(10):1914.
1994: Alessandra Renieri; L Galli; Mario De Marchi; S Li Volti; F Mollica; A Lupo; Giuseppe Maschio; B Peissel; S Rossetti; Pier Franco Pignatti
Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome.
Human molecular genetics 1994;3(1):201-2.
1994: B Peissel; S Rossetti; Alessandra Renieri; L Galli; Mario De Marchi; Graziana Battini; Mietta Meroni; Adalberto Sessa; S Schiavano; Pier Franco Pignatti
A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
Human mutation 1994;3(4):386-90.
1994: Alessandra Renieri; Mietta Meroni; Adalberto Sessa; Graziana Battini; P Serbelloni; L Torri Tarelli; Marco Seri; L Galli; Mario De Marchi
Variability of clinical phenotype in a large Alport family with Gly 1143 Ser change of collagen alpha 5(IV)-chain.
Nephron 1994;67(4):444-9.
1994: Alessandra Renieri; Maria Teresa Bassi; L Galli; J Zhou; M Giani; Mario De Marchi; A Ballabio
Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.
Human mutation 1994;4(3):195-8.
1994: L Massella; Gianfranco Rizzoni; R De Blasis; Paola Barsotti; Tullio Faraggiana; Alessandra Renieri; Marco Seri; L Galli; Mario De Marchi
De-novo COL4A5 gene mutations in Alport's syndrome.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 1994;9(10):1408-11.
1993: Mietta Meroni; Adalberto Sessa; Graziana Battini; L Torri Tarelli; T Bertani; Alessandra Renieri; Marco Seri; Mario De Marchi
Alport syndrome with type I membranoproliferative glomerulonephritis.
Nephron 1993;65(3):479-80.
1992: Alessandra Renieri; Marco Seri; J C Myers; T Pihlajaniemi; L Massella; Gianfranco Rizzoni; Mario De Marchi
De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.
Human molecular genetics 1992;1(2):127-9.
1992: Alessandra Renieri; Marco Seri; J C Myers; T Pihlajaniemi; Adalberto Sessa; Gianfranco Rizzoni; Mario De Marchi
Alport syndrome caused by a 5' deletion within the COL4A5 gene.
Human genetics 1992;89(1):120-1.