M. Marchi

发表

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 p 53 status

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

Circulating immune complexes in nephritis

R. Coppo, G. Segoloni, G. Piccoli, 1977, La Ricerca in clinica e in laboratorio.

New types of multiple and single gene deletions in the humanIgCH locus

A. Carbonara, M. Marchi, C. Boccazzi, 2006, Immunogenetics.

Gonadal agenesis in a phenotypically normal female with positive H-Y antigen

C. Campagnoli, A. Carbonara, B. Ghiringhello, 1981, Human Genetics.

True hermaphroditism with XX/XY sex chromosome mosaicism: Report of a case

G. Palestro, A. Carbonara, F. Carozzi, 1976, Clinical genetics.

Epidemiology of Duchenne muscular dystrophy in the province of Turin

D. Schiffer, C. Doriguzzi, T. Mongini, 2006, The Italian Journal of Neurological Sciences.

A novel missense mutation in exon 3 of the COL4A5 gene associated with late‐onset Alport syndrome

P. Pignatti, G. Rizzoni, S. Rossetti, 1995, Clinical genetics.

Analysis of Secondary V(D)J Rearrangements in Mature, Peripheral T Cells of Ataxia-Telangiectasia Heterozygotes

C. Giachino, Valentina Turinetto, A. Marchi, 2003, Laboratory Investigation.

Molecular characterization of the P and I variants of α1-antitrypsin

A. Renieri, M. Seri, B. Magi, 1992, International journal of clinical & laboratory research.

Occurrence of transketolase abnormalities in extracts of foreskin fibroblasts from patients with Alzheimer's disease.

S. Sorbi, F. Paoletti, S. Piacentini, 1990, Biochemical and biophysical research communications.

Atypical myeloproliferative disorder associated with a 21 trisomic clone

W. Piacibello, M. Aglietta, A. Carbonara, 1981, La Ricerca in clinica e in laboratorio.

CNVs analysis in a cohort of isolated and syndromic DD / ID reveals novel genomic disorders , position effects and candidate disease genes

Naretto, J. Buxbaum, M. Spielmann, 2022 .

Modeling the role of genetic factors in characterizing extra-intestinal manifestations in Crohn's disease patients: does this improve outcome predictions?

Dario Gregori, Mario De Marchi, D. Giachino, 2007, Current medical research and opinion.

Analysis of transketolase and identification of an enzyme variant in human leukocytes.

F. Paoletti, M. Marchi, A. Mocali, 1989, Biochemical and biophysical research communications.

Bayesian Machine Learning Techniques for revealing complex interactions among genetic and clinical factors in association with extra-intestinal Manifestations in IBD patients

Corrado Lanera, Paola Berchialla, Giulia Lorenzoni, 2016, AMIA.

Molecular biology of Bence Jones protein

A. Carbonara, M. Marchi, 1980, La Ricerca in clinica e in laboratorio.

Association between HLA and Diseases: Biological and Clinical Relevance

A. Carbonara, M. Marchi, 1984 .

Split of HLA-DRw2 into subtypic specificities closely correlated to two HLA-D products

E. Curtoni, M. Belvedere, P. Richiardi, 1978, Immunogenetics.

Relationships between HLA-D and DR

E. Curtoni, C. Savina, A. Carbonara, 1980 .

A new CARD15 mutation in Blau syndrome

Thomas Lengauer, M. Albrecht, L. Punzi, 2005, European Journal of Human Genetics.

PD-010 Pharmacogenetics studies in patients with advanced lung cancer: Prognostic value of the thymidylate synthase 2R/3R polymorphism and predictivity of NER factor XPD K751Q and XRCC1 R399Q polymorphisms following platinum-based chemotherapy

G. Scagliotti, S. Novello, G. Mandrile, 2005 .

Small frameshift deletions within the COL4A5 gene in juvenile-onset Alport syndrome

G. Rizzoni, E. Stramignoni, A. Renieri, 1993, Human Genetics.

p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma

A. Acquaviva, T. Hadjistilianou, M. C. Epistolato, 2011, Journal of Human Genetics.

p 53 Arg 72 Pro and MDM 2 309 SNPs in hereditary retinoblastoma

T. Hadjistilianou, M. C. Epistolato, D. Giachino, 2014 .

Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients

D. Giachino, D. Gregori, A. Pera, 2004, European Journal of Human Genetics.

University of Southern Denmark Oncogenic drivers in 11q13 associated with prognosis and response to therapy in advanced oropharyngeal carcinomas Barros-Filho,

S. Rogatto, C. Nicolau, S. Drigo, 2019 .

Primary hyperoxaluria: report of an Italian family with clear sex conditioned penetrance

G. Mandrile, D. Giachino, P. Stratta, 2008, Urological Research.

Central core disease: Histochemical and ultrastructural study of muscle biopsies of father and daughter

D. Schiffer, G. Monga, L. Palmucci, 1978, Journal of Neurology.

Familial progressive external ophthalmoplegia with multisystem abnormalities: “new” features raising nosological problems

R. Cantello, W. Troni, A. Riccio, 2004, Journal of Neurology.

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.

Literature abstracts

I. Keidan, M. Marchi, L. Massella, 2004, Pediatric Nephrology.

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.

Updated genetic testing of Italian patients referred with a clinical diagnosis of primary hyperoxaluria

L. Peruzzi, A. Amoroso, G. Stallone, 2017, Journal of Nephrology.

Cystic hygroma: Prenatal diagnosis and genetic counselling

C. Marchese, E. Viora, A. Carbonara, 1985, Prenatal diagnosis.

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.

Partial trisomy 3q in a newborn female

O. Zuffardi, W. Schmid, A. Carbonara, 1977, La Ricerca in clinica e in laboratorio.