PROVERBIO, MARIA CARLA
PROVERBIO, MARIA CARLA
Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti
A computational approach to identify whole genome homozygosity mapping across multiple SNP mapping experiments
2008 R. Spinelli, A. Gessi, M. Proverbio, E. Mangano, F. Ferrari, I. Cifola, M. Bardini, G. Cazzaniga, A. Salvatoni, C. Battaglia
A novel germline mutation in the TSH receptor gene causes non-autoimmune autosomal dominant hyperthyroidism
2001 L. Alberti, M. C. Proverbio, S. Costagliola, G. Weber, P. Beck-Peccoz, G. Chiumello, L. Persani
Congenital hyperinsulinism of infancy (CHI) : clinical and metabolic evaluation, molecular analysis and phenotype correlation : Institution of the Italian National Registry
2008 M. Bove, P. Sogno Valin, S. Di Candia, I. Zamproni, S. Mora, M.C. Proverbio, E. Mangano, R. Spinelli, C. Battaglia, L. Bosio, M. Caruso, A. Salvatoni, G. Chiumello, A. Gessi
Congenital Hyperinsulinism of Infancy (CHI) : hunt for new genes
2014 C. Battaglia, C. Cosentino, M. Proverbio, A. Pietrelli, E. Mangano, R. Bordoni, C. Perego, E. Di Cairano, A. Maggi, L. Tattini, G. De Bellis
Congenital hyperinsulinism of infancy : a dominant K-ATP channel mutation in a Italian family
2009 P. Sogno Valin, M. Bove, S. Di Candia, I. Zamproni, S. Mora, M.C. Proverbio, A. gessi, A. Gabrieli, C. Battaglia, M. Caruso, A. Salvatoni, G. Chiumello
Congenital hypothyroidism with gland in situ: diagnostic re-evaluation
2005 G. Weber, M.C. Vigone, A. Passoni, M. Odoni, P.L. Paesano, F. Dosio, M.C. Proverbio, C. Corbetta, L. Persani, G. Chiumello
Congenital hypothyroidism with gland in situ: diagnostic revaluation.
2005 G. Weber, M.C. Vigone, A. Passoni, M. Odoni, P.L. Paesano, F. Dosio, M.C. Proverbio, C. Corbetta, L. Persani, G. Chiumello
Defect in β-oxidation SCHAD enzyme in familial congenital hyperinsulinism of infancy (CHI)
2008 A. Gessi, M.C. Proverbio, E. Mangano, R. Spinelli, M. Bove, P. Sogno Valin, S. Di Candia, I. Zamproni, S. Mora, L. Bosio, M. Caruso, A. Salvatoni, G. Chiumello, C. Battaglia
Expression of S561F CDKAL1 variant modifies the constitutive trafficking and affects insulin release in INS1E cells
2017 E.S. Di Cairano, C. Cosentino, A. Galli, M.C. Proverbio, C. Battaglia, C. Perego
Familial hypocalciuric hypocalcaemia: a new inactivating mutation of calcium sensing receptor
2007 R. Biasion, T. Arcidiacono, A. Terranegra, D. Cusi, E. Dogliotti, V. Paloschi, G. Vezzoli, S. Mora, R. Lanzi, M.C. Proverbio, L. Soldati
Gene expression profiling of A549 cells exposed to Milan PM2.5
2012 M. Gualtieri, E. Longhin, M. Mattioli, P. Mantecca, V. Tinaglia, E. Mangano, M.C. Proverbio, M. Camatini, C. Battaglia
Gene expression profiling of human bronchial epithelial cells exposed to seasonal Milan particulate matter
2014 E. Longhin, L. Capasso, C. Battaglia, C. Cosentino, M.C. Proverbio, I. Cifola, E. Mangano, M. Camatini, M. Gualtieri
Genetic analysis of Italian patients with congenital hyperinsulinism of infancy
2013 P. Sogno Valin, M.C. Proverbio, C. Diceglie, A. Gessi, S. Di Candia, B. Mariani, I. Zamproni, E. Mangano, R. Asselta, C. Battaglia, M. Caruso Nicoletti, S. Mora, A. Salvatoni
Genetic variants of PARP4 gene and PARP4P2 pseudogene in patients with multiple primary tumors including thyroid cancer.
2019 V. Cirello, C. Colombo, G. Pogliaghi, M. Proverbio, S. Rossi, E. Mussani, D. Tosi, G. Bulfamante, E. Bonoldi, G. Gherardi, L. Persani, L. Fugazzola
Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical Hypothyroidism
2002 LUISELLA ALBERTI, MARIA CARLA PROVERBIO, SABINE COSTAGLIOLA, ROBERTO ROMOLI, BENEDETTA BOLDRIGHINI, MARIA CRISTINA VIGONE, GIOVANNA WEBER, GIUSEPPE CHIUMELLO, PAOLO BECK-PECCOZ, LUCA PERSANI
Homozygousity mapping of congenital hyperinsulinism of infancy (CHI) in Italian patients
2008 A. Gessi, M.C. Proverbio, E. Mangano, R. Spinelli, M. Bove, P. Sogno Valin, S. Di Candia, I. Zamproni, S. Mora, L. Bosio, M. Caruso, A. Salvatoni, G. Chiumello, C. Battaglia
Hyperplastic pituitary gland, high serum glycoprotein hormone alpha-subunit, and variable circulating thyrotropin (TSH) levels as hallmark of central hypothyroidism due to mutations of the TSH beta gene
2001 M. Bonomi, M.C. Proverbio, G. Weber, G. Chiumello, P. Beck Peccoz, L. Persani
Identification of a diffuse form of hyperinsulinemic hypoglycemia by 18-fluoro-L-3,4 dihydroxyphenylalanine positron emission tomography/CT in a patient carrying a novel mutation of the HADH gene
2009 S. Di Candia, A. Gessi, G. Pepe, P. Sogno Valin, E. Mangano, G. Chiumello, L. Gianolli, M.C. Proverbio, S. Mora
Impact of Mutation Density and Heterogeneity on Papillary Thyroid Cancer Clinical Features and Remission Probability
2019 C. Colombo, M. Muzza, M.C. Proverbio, D. Tosi, D. Soranna, C. Pesenti, S. Rossi, V. Cirello, S. De Leo, N. Fusco, M. Miozzo, G. Bulfamante, L. Vicentini, S. Ferrero, A. Zambon, S. Tabano, L. Fugazzola
Integrated genomics analysis of gene and miRNA expression profiles in clear cell renal carcinoma cell lines
2011 V. Tinaglia, I. Cifola, F. Frascati, E. Mangano, M. Biasolo, M.C. Proverbio, S. Bortoluzzi, V. Di Stefano, C. Bianchi, R. Perego, C. Battaglia