I. Dianzani

F. Cerutti, I. Dianzani, C. Sacchetti, 1989, Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde.

Erythrocyte Na,Li Countertransport and Arterial Pressure in Diabetic Adolescents

F. Cerutti, R. Coppo, I. Dianzani, 1990, Acta paediatrica Scandinavica.

Evidence for a Possible Role of Lipid Peroxidation in Experimental Liver Fibrosis

I. Dianzani, G. Poli, E. Albano, 1993 .

Vitamin E dietary supplementation inhibits transforming growth factor β1 gene expression in the rat liver

I. Dianzani, G. Poli, M. Parola, 1992, FEBS letters.

Defective function of Fas in T cells from paediatric patients with autoimmune thyroid diseases

A. Chiocchetti, U. Dianzani, I. Dianzani, 2003, Clinical and experimental immunology.

Clustering of distinct autoimmune diseases associated with functional abnormalities of T cell survival in children

U. Dianzani, C. Pignata, I. Dianzani, 2000, Clinical and experimental immunology.

Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience

G. Scagliotti, G. Alí, E. Migliore, 2022, Diagnostics.

CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.

G. Matullo, M. Papotti, F. Grosso, 2016, Cancer letters.

Characterization of Phenylketonuria Alleles in the Italian Population

I. Dianzani, E. Marra, S. Giannattasio, 1995, European journal of human genetics : EJHG.

Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry

Jason E. Farrar, I. Dianzani, K. Onel, 2018, Circulation. Genomic and precision medicine.

High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

I. Dianzani, A. Brusco, J. Svahn, 2012, Haematologica.

IDENTIFICATION OF MICRODELETIONS SPANNING THE DIAMOND-BLACKFAN ANEMIA (DBA) LOCUS ON 19Q13 AND EVIDENCE FOR GENETIC HETEROGENEITY

I. Dianzani, H. Cario, N. Olivieri, 1998, Pediatric Research.

Genetic susceptibility to malignant mesothelioma and exposure to asbestos: the influence of the familial factor.

S. Bonassi, M. Ceppi, M. Neri, 2008, Mutation research.

Phenotyping of phenylketonuric patients by oral phenylalanine loading

P. Guldberg, I. Dianzani, F. Güttler, 1996, European Journal of Pediatrics.

Mutation of FAS, XIAP, and UNC13D Genes in a Patient With a Complex Lymphoproliferative Phenotype

A. Chiocchetti, U. Dianzani, I. Dianzani, 2013, Pediatrics.

Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity.

M. Gallucci, P. Gasparini, I. Dianzani, 1995, American journal of human genetics.

Diamond-Blackfan anemia: a ribosomal puzzle

I. Dianzani, F. Loreni, 2008, Haematologica.

A frequent EcoRI polymorphism in the bcl-2 gene

I. Dianzani, F. caligaris-Cappio, P. Ghia, 1993, Human Genetics.

Deﬁciency of the Fas apoptosis pathway without Fas gene mutations is a familial trait predisposing to development of autoimmune diseases and cancer

I. Dianzani, G. Migliaretti, F. Merletti, 2022 .

Dihydropteridine reductase deficiency in man: From biology to treatment

I. Dianzani, M. Spada, A. Ponzone, 2004, Medicinal research reviews.

Dihydropteridine reductase deficiency in man: From biology to treatment

I. Dianzani, M. Spada, A. Ponzone, 2004, Medicinal research reviews.

Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency.

D. Howells, I. Dianzani, R. Cotton, 1993, Journal of medical genetics.

Tetrahydrobiopterin Loading Test in Hyperphenylalaninemia

I. Dianzani, G. Ferrero, R. Cotton, 1991, Pediatric Research.

Progression of 6-pyruvoyl-tetrahydropterin synthase deficiency from a peripheral into a central phenotype

I. Dianzani, N. Blau, G. Ferrero, 1990, Journal of Inherited Metabolic Disease.

Ribosomal RNA analysis in the diagnosis of Diamond‐Blackfan Anaemia

I. Dianzani, A. Aspesi, S. Ellis, 2016, British journal of haematology.

Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F.

D. Girelli, O. Olivieri, P. Gasparini, 1993, Human molecular genetics.

Genetic Heterogeneity in Five Italian Regions: Analysis of PAH Mutations and Minihaplotypes

A. Piazza, I. Dianzani, F. Calì, 2001, Human Heredity.

Genetic history of phenylketonuria mutations in Italy.

A. Piazza, I. Dianzani, E. Marra, 1994, American journal of human genetics.

Analysis of telomeres in peripheral blood cells from patients with bone marrow failure

I. Dianzani, A. Aspesi, C. Dufour, 2009, Pediatric blood & cancer.

Screening for mutations in the phenylalanine hydroxylase gene from Italian patients with phenylketonuria by using the chemical cleavage method: a new splice mutation.

I. Dianzani, R. Cotton, G. Saglio, 1991, American journal of human genetics.

Phenylalanine and tyrosine metabolism in phenylketonuria heterozygotes: Influence of different phenylalanine hydroxylase mutations

I. Dianzani, M. Spada, A. Ponzone, 1998, Journal of Inherited Metabolic Disease.

Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.

D. Howells, I. Dianzani, R. Cotton, 1991, American journal of human genetics.

Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.

I. Dianzani, R. Cotton, G. Saglio, 1993, Journal of medical genetics.

Simultaneous screening for beta-thalassemia mutations by chemical cleavage of mismatch.

I. Dianzani, R. Cotton, G. Saglio, 1991, Genomics.

Heterozygotes and homozygotes: discrimination by chemical cleavage of mismatch.

I. Dianzani, R. Cotton, S. Forrest, 1991, American journal of human genetics.

HIGH LEVELS OF OSTEOPONTIN ASSOCIATED TO POLYMORPHISMS IN ITS GENE ARE A RISK FACTOR FOR DEVELOPMENT OF AUTOIMMUNITY/LYMPHOPROLIFERATION Running title: Osteopontin in autoimmunity/lymphoproliferation

Riccardo, Annalisa, Mara, 2003 .

NOLA1 gene mutations in acquired aplastic anemia

I. Dianzani, J. Svahn, M. Pillon, 2009, Pediatric blood & cancer.

Haplotype distribution and molecular defects of PKU in Italy

M. Devoto, I. Dianzani, G. Saglio, 1990, Journal of Inherited Metabolic Disease.

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy

M. Devoto, I. Dianzani, G. Saglio, 1990, Human Genetics.

Novel missense mutation in the phenylalanine hydroxylase gene leading to complete loss of enzymatic activity

I. Dianzani, S. Giannattasio, P. Knappskog, 1995, Human mutation.

Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia

I. Dianzani, A. Aspesi, U. Ramenghi, 2010, Pediatric blood & cancer.

Structure function studies of the phenylalanine hydroxylase active site and a summary of structural features.

D. Howells, I. Dianzani, R. Cotton, 1993, Advances in experimental medicine and biology.

Phenylketonuria in Italy: Distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene

I. Dianzani, S. Giannattasio, G. Andria, 1997, Journal of Inherited Metabolic Disease.

Prenatal diagnosis by minisatellite analysis in italian families with phenylketonuria

P. Bosco, I. Dianzani, V. Romano, 1994, Prenatal diagnosis.

Prenatal diagnosis in primary hyperphenylalaninemias

I. Dianzani, R. Ponzone, N. Blau, 1993 .

Spontaneous remission in a Diamond‐Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation

T. Pippucci, I. Dianzani, M. Carella, 2018, British journal of haematology.

A CONGENITAL DEFECT IN ERYTHROPOIESIS

I. Dianzani, U. Ramenghi, E. Garelli, 2005 .

Mutations in the erythropoietin receptor gene are not a common cause of Diamond-Blackfan anemia.

I. Dianzani, F. Locatelli, N. Olivieri, 1996, Blood.

Diamond-Blackfan anemia: a congenital defect in erythropoiesis.

I. Dianzani, U. Ramenghi, E. Garelli, 1996, Haematologica.

Clinical utility gene card for: Diamond – Blackfan Anemia – update 2013

I. Dianzani, J. Lipton, N. Dahl, 2013, European Journal of Human Genetics.

Clinical utility gene card for: Diamond Blackfan anemia

I. Dianzani, J. Lipton, N. Dahl, 2011, European Journal of Human Genetics.

Familial PAX8 small deletion (c.989_992delACCC) associated with extreme phenotype variability.

M. Zannini, I. Dianzani, P. Gianino, 2004, The Journal of clinical endocrinology and metabolism.

A newly‐characterized α‐thalassaemia‐1 deletion removes the entire α‐like globin gene cluster in an Italian family

P. Fortina, I. Dianzani, G. Saglio, 1991 .

Deficiency of ribosomal protein S26, which is mutated in a subset of patients with Diamond Blackfan anemia, impairs erythroid differentiation

I. Dianzani, A. Aspesi, Yukio Nakamura, 2022, Frontiers in Genetics.

Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome.

I. Dianzani, Valentina Mercaldo, F. Loreni, 2007, Human molecular genetics.

Genetic Variants Associated with Increased Risk of Malignant Pleural Mesothelioma: A Genome-Wide Association Study

J. Hui, J. Beilby, A. James, 2013, PloS one.

An Overview of the Genetic Structure within the Italian Population from Genome-Wide Data

A. Piazza, G. Matullo, S. Bonassi, 2012, PloS one.

The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia

Peter Gustavsson, Hans Matsson, I. Dianzani, 1999, Nature Genetics.

Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb

P. Nilsson, I. Dianzani, A. Haeringen, 1997, Nature Genetics.

The spectrum of mutations in dihydropteridine reductase deficiency.

D. Howells, I. Dianzani, R. Cotton, 1993, Advances in experimental medicine and biology.

The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis

I. Dianzani, L. D. Da Costa, A. Migliaccio, 2021, Frontiers in Physiology.

Genetics and Epigenetics of Mesothelioma

G. Matullo, I. Dianzani, S. Guarrera, 2019, Mesothelioma.

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype.

P. Guldberg, I. Dianzani, V. Romano, 1998, American journal of human genetics.

Deficiency of the Fas apoptosis pathway without Fas gene mutations is a familial trait predisposing to development of autoimmune diseases and cancer.

U. Dianzani, I. Dianzani, G. Migliaretti, 2000, Blood.

DNA methylation profiling of asbestos-treated MeT5A cell line reveals novel pathways implicated in asbestos response

G. Matullo, I. Dianzani, S. Guarrera, 2018, Archives of Toxicology.

Genetic susceptibility to malignant pleural mesothelioma and other asbestos-associated diseases.

S. Bonassi, M. Neri, R. Puntoni, 2008, Mutation research.

New DNA Methylation Signals for Malignant Pleural Mesothelioma Risk Assessment

G. Matullo, F. Grosso, D. Ferrante, 2021, Cancers.

DNA Methylation of FKBP5 as Predictor of Overall Survival in Malignant Pleural Mesothelioma

G. Matullo, F. Grosso, D. Ferrante, 2020, Cancers.

Peripheral Blood DNA Methylation as Potential Biomarker of Malignant Pleural Mesothelioma in Asbestos‐Exposed Subjects

G. Matullo, F. Grosso, D. Ferrante, 2019, Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer.

Malignant pleural mesothelioma: Germline variants in DNA repair genes may steer tailored treatment.

G. Scagliotti, E. Migliore, G. Matullo, 2022, European journal of cancer.

Germline mutations in DNA repair genes predispose asbestos-exposed patients to malignant pleural mesothelioma.

G. Matullo, F. Grosso, D. Ferrante, 2017, Cancer letters.

Molecular Analysis of the GNAS1 Gene for the Correct Diagnosis of Albright Hereditary Osteodystrophy and Pseudohypoparathyroidism

M. Maghnie, I. Dianzani, S. Maio, 2003, Pediatric Research.

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression.

I. Dianzani, C. Niemeyer, A. Brusco, 1999, Blood.

Loss of GATA‐1 full length as a cause of Diamond–Blackfan anemia phenotype

I. Dianzani, A. Aspesi, S. Ellis, 2014, Pediatric blood & cancer.

Alteration of heme metabolism in a cellular model of Diamond–Blackfan anemia

L. Silengo, I. Dianzani, A. Aspesi, 2016, European journal of haematology.

The ribosomal basis of diamond‐blackfan anemia: mutation and database update

Mutlu Kartal, Thierry Leblanc, A. Beggs, 2010, Human mutation.

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide

Ivana K. Kim, S. Puig, N. Hayward, 2018, Journal of the National Cancer Institute.

Interactions between RPS19, mutated in Diamond-Blackfan anemia, and the PIM-1 oncoprotein.

Claudio Santoro, Umberto Dianzani, A. Chiocchetti, 2005, Haematologica.

Primer sets for cloning the human repertoire of T cell Receptor Variable regions

I. Dianzani, D. Sblattero, C. Santoro, 2008, BMC Immunology.

Exploiting pre‐rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis

R. Arceci, I. Dianzani, D. Bodine, 2014, American journal of hematology.

Differential proteomic analysis in human cells subjected to ribosomal stress

I. Dianzani, A. Aspesi, F. Loreni, 2013, Proteomics.

Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

Alfredo Brusco, I. Dianzani, A. Aspesi, 2010, Haematologica.

A new database for ribosomal protein genes which are mutated in Diamond‐Blackfan Anemia

I. Dianzani, A. Aspesi, M. Campagnoli, 2008, Human mutation.

Multiplex ligation-dependent probe amplification enhances molecular diagnosis of Diamond-Blackfan anemia due to RPS19 deficiency

I. Dianzani, A. Brusco, M. Barberis, 2008, Haematologica.

Nonsense‐mediated and nonstop decay of ribosomal protein S19 mRNA in Diamond‐Blackfan anemia

A. Chatr-aryamontri, I. Dianzani, F. Loreni, 2004, Human mutation.

Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population.

I. Dianzani, P. Strippoli, A. Brusco, 2000, Blood cells, molecules & diseases.

Fibroblasts from patients with Diamond-Blackfan anaemia show abnormal expression of genes involved in protein synthesis, amino acid metabolism and cancer

Paola Roncaglia, Claudio Santoro, Stefano Gustincich, 2009, BMC Genomics.

Analysis of the Ribosomal Protein S19 Interactome*S

Claudio Santoro, I. Dianzani, A. Aspesi, 2007, Molecular & Cellular Proteomics.

Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia

S. Gustincich, P. Roncaglia, R. Crescitelli, 2014, Gene.

Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy

R. Crescitelli, I. Dianzani, A. Aspesi, 2015, PloS one.

Diamond-Blackfan Anaemia: an overview.

I. Dianzani, U. Ramenghi, E. Garelli, 2000, Paediatric drugs.

Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.

R. Clementi, A. Cometa, A. Chiocchetti, 2004, The New England journal of medicine.

A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation

E. Orilieri, G. Cappellano, A. Chiocchetti, 2015, Genes and Immunity.

Diamond-Blackfan anemia: expansion of erythroid progenitors in vitro by IL-9, but exclusion of a significant pathogenetic role for the IL-9 gene and the hematopoietic gene cluster on chromosome 5q.

I. Dianzani, S. Brandalise, N. Olivieri, 1997, Experimental hematology.

Melanoma-prone families: new evidence of distinctive clinical and histological features of melanomas in CDKN2A mutation carriers

I. Dianzani, B. Pasini, P. Savoia, 2018, Archives of Dermatological Research.

Polymorphisms in DNA repair genes as risk factors for asbestos-related malignant mesothelioma in a general population study.

G. Matullo, D. Ferrante, I. Dianzani, 2006, Mutation research.

III Italian Consensus Conference on Malignant Mesothelioma of the Pleura. Epidemiology, Public Health and Occupational Medicine related issues.

D. Consonni, M. Maule, I. Dianzani, 2015, La Medicina del lavoro.

Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes

G. Scagliotti, G. Matullo, F. Grosso, 2018, Genes, chromosomes & cancer.

Inference on germline BAP1 mutations and asbestos exposure from the analysis of familial and sporadic mesothelioma in a high‐risk area

G. Matullo, G. Pelosi, M. Papotti, 2015, Genes, chromosomes & cancer.

Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.

G. Borsani, A. Ballabio, M. P. Sperandeo, 2000, American journal of human genetics.

Human peripheral blood granulocytes and myeloid leukemic cell lines express both transcripts encoding for stem cell factor

M. Brizzi, I. Dianzani, G. Saglio, 1994, Stem cells.

Erratum: Genetic variants associated with increased risk of malignant pleural mesothelioma: A genome-wide association study (PLoS ONE (2015) 8:4 (e61253) DOI: 10.1371/journal.pone.0061253)

J. Hui, J. Beilby, A. James, 2015 .

Pooled analysis of NAT2 genotypes as risk factors for asbestos-related malignant mesothelioma.

S. Bonassi, M. Neri, D. Ferrante, 2009, International journal of hygiene and environmental health.

Variations of the perforin gene in patients with autoimmunity/lymphoproliferation and defective Fas function.

E. Orilieri, G. Cappellano, R. Clementi, 2006, Blood.

Serum Extracellular Vesicle-Derived microRNAs as Potential Biomarkers for Pleural Mesothelioma in a European Prospective Study

M. Schulze, E. Riboli, P. Vineis, 2022, Cancers.

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.

I. Dianzani, R. Schutgens, K. Gibson, 1991, The Journal of pediatrics.

Genotype–phenotype correlation in dihydropteridine reductase deficiency

I. Dianzani, N. Blau, T. Coşkun, 2000, Journal of Inherited Metabolic Disease.

Catalytic Activity of Tetrahydrobiopterin in Dihydropteridine Reductase Deficiency and Indications for Treatment

I. Dianzani, R. Ponzone, G. Ferrero, 1993, Pediatric Research.

Diminished expression of phosphatidylethanolamine N-methyltransferase 2 during hepatocarcinogenesis.

L. Tessitore, D. Vance, I. Dianzani, 1999, The Biochemical journal.

CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.

G. Matullo, M. Papotti, F. Grosso, 2016, Cancer letters.

Gene-asbestos interaction in malignant pleural mesothelioma susceptibility.

G. Matullo, S. Bonassi, M. Neri, 2015, Carcinogenesis.

A genome-wide association study for malignant mesothelioma risk.

J. Hui, J. Beilby, L. Palmer, 2013, Lung cancer.

TITLE: Gene-asbestos interaction in malignant pleural mesothelioma susceptibility. Running: Gene-asbestos interaction in pleural mesothelioma

G. Matullo, S. Bonassi, M. Neri, 2022 .

autoimmunity/lymphoproliferation and defective Fas function Variations of the perforin gene in patients with

G. Cappellano, A. Cometa, M. Ferretti, 2012 .

The STR252 – IVS10nt546 – VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples

P. Bosco, A. Piazza, I. Dianzani, 1997, Human Genetics.

Construction of a genetic map telomeric to HLA-A by microsatellite analysis.

P. Gasparini, I. Dianzani, C. Camaschella, 1993, Molecular and cellular probes.

Medical and surgical care of mesothelioma patients and their relatives carrying germline BAP1 mutations.

Chuong D. Hoang, V. Rusch, S. Pastorino, 2022, Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer.

Variations of the UNC13D Gene in Patients with Autoimmune Lymphoproliferative Syndrome

E. Orilieri, G. Cappellano, A. Chiocchetti, 2013, PloS one.

A new method for investigating microbiota-produced small molecules in adenomatous polyps.

I. Dianzani, A. Aspesi, E. Marengo, 2021, Analytica chimica acta.

Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations

I. Dianzani, N. Blau, A. Brusco, 1998, Human mutation.

Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy

M. Wlodarski, I. Dianzani, S. Guarrera, 2017, Scientific Reports.

A SPONTANEOUS MUTATION CAUSING UNSTABLE Hb HAMMERSMITH: DETECTION OF THE β42 TTT→TCT CHANGE BY CCM AND DIRECT SEQUENCING

I. Dianzani, C. Camaschella, S. Ramus, 1991, British journal of haematology.

Phenotype characterization and prevalence of rBAT M467T mutation in Italian cystinuric patients

I. Dianzani, L. Bisceglia, A. Ponzone, 1996, Journal of Inherited Metabolic Disease.

Distinct Signatures of Tumor-Associated Microbiota and Metabolome in Low-Grade vs. High-Grade Dysplastic Colon Polyps: Inference of Their Role in Tumor Initiation and Progression

Edoardo Pasolli, D. Ferrante, I. Dianzani, 2023, Cancers.

Gene-asbestos interaction in malignant pleural mesothelioma susceptibility.

G. Matullo, S. Bonassi, M. Neri, 2015, Carcinogenesis.