Publications by authors named "Mario De Marchi"

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Analysis of BCLI, N363S and ER22/23EK Polymorphisms of the Glucocorticoid Receptor Gene in Adrenal Incidentalomas.
Giuseppe Reimondo, Iacopo Chiodini, Soraya Puglisi, Anna Pia, Valentina Morelli, Mario De Marchi

PLoS One· August 2017

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Bayesian Machine Learning Techniques for revealing complex interactions among genetic and clinical factors in association with extra-intestinal Manifestations in IBD patients.
E Menti, C Lanera, G Lorenzoni, Daniela F Giachino, Mario De Marchi

AMIA Annu Symp Proc· August 2017

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Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria.
Alessandra Pelle, Alessandra Cuccurullo, Cecilia Mancini, Regina Sebastiano, Giovanni Stallone, Mario De Marchi

J Nephrol· April 2017

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In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis.
Roberto Pagliarini, Raffaele Castello, Francesco Napolitano, Roberta Borzone, Patrizia Annunziata, Mario De Marchi

Cell Rep· June 2016

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Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans.
Giorgia Mandrile, Eleonora Di Gregorio, Himanshu Goel, Daniela Giachino, Stefania De Mercanti, Mario De Marchi

Cerebellum· April 2016

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SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients.
Maria Teresa Ricci, Silvia Menegon, Simona Vatrano, Giorgia Mandrile, Natascia Cerrato, Mario De Marchi

Sci Rep· September 2014

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[Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates].
Céline Schaeffer, Angela Cattaneo, Matteo Trudu, Sara Santambrogio, Ilenia Bernascone, Mario De Marchi

G Ital Nefrol· September 2013

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Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
Pierre Cochat, Sally-Anne Hulton, Cécile Acquaviva, Christopher J Danpure, Michel Daudon, Mario De Marchi

Nephrol Dial Transplant· May 2012

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Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.
Céline Schaeffer, Angela Cattaneo, Matteo Trudu, Sara Santambrogio, Ilenia Bernascone, Mario De Marchi

Kidney Int· April 2012

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p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.
Maria Carmela Epistolato, Vittoria Disciglio, Gabriella Livide, Paola Berchialla, Maria Antonietta Mencarelli, Mario De Marchi

J Hum Genet· September 2011

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Association between major mood disorders and the hypocretin receptor 1 gene.
Innocenzo Rainero, Luca Ostacoli, Elisa Rubino, Salvatore Gallone, Luigi Rocco Picci, Mario De Marchi

J Affect Disord· May 2011

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Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.
Angela Robbiano, Vladimir Frecer, Jan Miertus, Cristina Zadro, Sheila Ulivi, Mario De Marchi

J Nephrol· January 2011

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A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells.
Valentina Turinetto, Paola Porcedda, Valentina Minieri, Luca Orlando, Erica Lantelme, Mario De Marchi

DNA Repair (Amst)· November 2010

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Novel human pathological mutations. Gene symbol: AGXT. Disease: hyperoxaluria.
Angela Robbiano, Giorgia Mandrile, Mario De Marchi, Bodo Beck, Anne Baasner

Hum Genet· April 2010

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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.
Valentina Turinetto, Paola Porcedda, Luca Orlando, Mario De Marchi, Antonio Amoroso

BMC Cancer· August 2009

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Two-tier analysis of histone H2AX phosphorylation allows the identification of Ataxia Telangiectasia heterozygotes.
Paola Porcedda, Valentina Turinetto, Luca Orlando, Erica Lantelme, Alfredo Brusco, Mario De Marchi

Radiother Oncol· July 2009

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Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review.
Leonardo Punzi, Antonio Furlan, Marta Podswiadek, Alessandra Gava, Marialuisa Valente, Mario De Marchi

Autoimmun Rev· January 2009

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Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells.
Franca Gerosa, Barbara Baldani-Guerra, Lyudmila A Lyakh, Giovanna Batoni, Semih Esin, Mario De Marchi

J Exp Med· June 2008

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An in vitro model of T cell receptor revision in mature human CD8+ T cells.
Erica Lantelme, Luca Orlando, Paola Porcedda, Valentina Turinetto, Mario De Marchi

Mol Immunol· January 2008

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Modeling the role of genetic factors in characterizing extra-intestinal manifestations in Crohn's disease patients: does this improve outcome predictions?
Daniela F Giachino, Silvia Regazzoni, Marco Bardessono, Mario De Marchi, Dario Gregori

Curr Med Res Opin· July 2007

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Prospective assessment of XPD Lys751Gln and XRCC1 Arg399Gln single nucleotide polymorphisms in lung cancer.
Daniela F Giachino, Paolo Ghio, Silvia Regazzoni, Giorgia Mandrile, Silvia Novello, Mario DeMarchi

Clin Cancer Res· May 2007

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Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome.
Paola Porcedda, Valentina Turinetto, Erica Lantelme, Enrico Fontanella, Krystyna Chrzanowska, Mario De Marchi

DNA Repair (Amst)· August 2006

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A new CARD15 mutation in Blau syndrome.
Marjan M van Duist, Mario Albrecht, Marta Podswiadek, Daniela Giachino, Thomas Lengauer, Mario De Marchi

Eur J Hum Genet· June 2005

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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.
Jean Philippe Jais, Bertrand Knebelmann, Iannis Giatras, Mario De Marchi, Gianfranco Rizzoni

J Am Soc Nephrol· October 2003

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Analysis of secondary V(D)J rearrangements in mature, peripheral T cells of ataxia-telangiectasia heterozygotes.
Erica Lantelme, Valentina Turinetto, Stefania Mantovani, Antonietta Marchi, Silvia Regazzoni, Mario De Marchi

Lab Invest· October 2003

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