M. de Marchi

发表

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.

E. Salido, M. Daudon, N. Jamieson, 2012, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Pothomorphe umbellata: antifungal activity against strains of Trichophyton rubrum.

A. G. dos Santos, F. S. Leite, G. Zocolo, 2012, Journal de mycologie medicale.

Antibody-dependent cell-mediated cytotoxicity in humans. I. Characterization of the effector cell.

G. Trinchieri, M. De Marchi, Z. Tökés, 1975, Journal of immunology.

Missense mutations in the COL4A5 gene in patients with X‐linked alport syndrome

G. Rizzoni, R. Mingarelli, S. Rossetti, 1998, Human mutation.

Unequal homologous crossing over resulting in duplication of 36 base pairs within Exon 47 of the COL4A5 gene in a family with Alport syndrome

T. Pihlajaniemi, A. Renieri, E. Hämäläinen, 1996, Human mutation.

LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.

A. Ballabio, Y. Pei, A. Renieri, 1999, American journal of human genetics.

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

A. Amoroso, C. Giachino, Valentina Turinetto, 2009, BMC Cancer.

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

J. Buxbaum, M. Spielmann, P. Provero, 2017, Clinical genetics.

Antibody-dependent cell-mediated cytotoxicity in humans. III. Effect of protease inhibitors and substrates.

G. Trinchieri, M. De Marchi, M. de Marchi, 1976, Journal of immunology.

Impaired elimination of DNA double-strand break-containing lymphocytes in ataxia telangiectasia and Nijmegen breakage syndrome.

D. Delia, K. Chrzanowska, C. Giachino, 2006, DNA repair.

Pulsed-field gel analysis of human immunoglobulin heavy-chain constant region gene deletions reveals the extent of unmapped regions within the locus.

A. Bottaro, N. Migone, A. Carbonara, 1989, Genomics.

Patients with different lung cancers show normal expression of fra(3)(p14.2) in aphidicolin-treated lymphocyte cultures.

B. Porfirio, M. Cintorino, M. De Marchi, 1989, Cancer genetics and cytogenetics.

Alport syndrome--is there a genotype-phenotype relationship?

A. Renieri, A. Turco, M. de Marchi, 1997, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Differential regulation of interleukin 12 and interleukin 23 production in human dendritic cells

G. Trinchieri, R. Kastelein, D. Giachino, 2008, The Journal of experimental medicine.

Two-tier analysis of histone H2AX phosphorylation allows the identification of Ataxia Telangiectasia heterozygotes.

A. Amoroso, A. Brusco, C. Giachino, 2009, Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology.

Lymphocyte antibody lymphocytolytic interaction (LALI) with special emphasis on HL-A.

G. Trinchieri, W. Mayr, M. De Marchi, 1973, Transplantation proceedings.

COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.

G. Mazzucco, G. Frascà, D. Roccatello, 2002, Kidney international.

Definition of the smallest pathological CAG expansion in SCA7

L. Orsi, A. Brusco, D. Schiffer, 1999, Clinical genetics.

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

A. Ballabio, P. Pignatti, G. Rizzoni, 1996, American journal of human genetics.

Genetic analysis and biological properties of products of the third SD (AJ) locus of the HL-A region.

W. Mayr, D. Bernoco, R. Ceppellini, 1973, Transplantation proceedings.

A radioimmunoassay typing study of non-DQw2-associated celiac disease.

I. Polanco, M. De Marchi, R. Tosi, 1986, Clinical immunology and immunopathology.

A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells.

A. Amoroso, D. Delia, C. Giachino, 2010, DNA repair.

Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

F. Brancati, G. Ghiggeri, S. Feriozzi, 2014, Clinical Genetics.

Antibody-dependent cell-mediated cytotoxicity in humans. II. Energy requirement.

G. Trinchieri, M. De Marchi, M. de Marchi, 1975, Journal of immunology.

Distribution of alpha-chains of type IV collagen in glomerular basement membranes with ultrastructural alterations suggestive of Alport syndrome.

G. Mazzucco, G. Rizzoni, T. Faraggiana, 2001, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

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.

M. Mihatsch, G. Mazzucco, T. Faraggiana, 1998, Journal of the American Society of Nephrology : JASN.

An in vitro model of T cell receptor revision in mature human CD8+ T cells.

A. Amoroso, C. Giachino, Valentina Turinetto, 2008, Molecular immunology.

A novel frameshift deletion in type IV collagen α5 gene in a juvenile‐type Alport syndrome patient: An adenine deletion (2940/2943 del A) in exon 34 of COL4A5

P. Pignatti, S. Rossetti, A. Sessa, 1994 .

Circulating immune complexes containing IgA, IgG and IgM in patients with primary IgA nephropathy and with Henoch-Schoenlein nephritis. Correlation with clinical and histologic signs of activity.

G. Mazzucco, R. Coppo, G. Piccoli, 1982, Clinical nephrology.

Properdin factor B and glyoxalase 1 polymorphism in celiac disease.

F. Malavasi, N. Ansaldi, A. Carbonara, 1980, The New England journal of medicine.

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.

H. Smeets, J. Jais, M. Sanak, 2003, Journal of the American Society of Nephrology : JASN.

X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.

H. Smeets, J. Jais, M. Sanak, 2000, Journal of the American Society of Nephrology : JASN.

IgA1 and IgA2 immune complexes in primary IgA nephropathy and Henoch-Schönlein nephritis.

G. Mazzucco, R. Coppo, D. Roccatello, 1984, Clinical and experimental immunology.

De-novo COL4A5 gene mutations in Alport's syndrome.

G. Rizzoni, T. Faraggiana, A. Renieri, 1994, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Alport syndrome with type I membranoproliferative glomerulonephritis.

A. Sessa, A. Renieri, M. De Marchi, 1993, Nephron.

Modeling the effect of 3 missense AGXT mutations on dimerization of the AGT enzyme in primary hyperoxaluria type 1.

S. Ulivi, A. Amoroso, S. Miertus, 2010, Journal of nephrology.

In Silico Modeling of Liver Metabolism in a Human Disease Reveals a Key Enzyme for Histidine and Histamine Homeostasis

Roberto Pagliarini, Diego di Bernardo, Patrizia Annunziata, 2016, Cell reports.

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms.

F. Scolari, C. Izzi, A. Amoroso, 2012, Kidney international.

Association between major mood disorders and the hypocretin receptor 1 gene.

L. Pinessi, L. Ostacoli, I. Rainero, 2011, Journal of affective disorders.

Heterozygous Deletion of KLHL1/ATX8OS at the SCA8 Locus Is Unlikely Associated With Cerebellar Impairment in Humans

A. Brusco, G. Mandrile, D. Giachino, 2016, The Cerebellum.