Publications by authors named "Maria C Proverbio"

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Genetic variants of PARP4 gene and PARP4P2 pseudogene in patients with multiple primary tumors including thyroid cancer.
Valentina Cirello, Carla Colombo, Gabriele Pogliaghi, Maria Carla Proverbio, Stefania Rossi

Mutat Res· November 2019

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Impact of Mutation Density and Heterogeneity on Papillary Thyroid Cancer Clinical Features and Remission Probability.
Carla Colombo, Marina Muzza, Maria Carla Proverbio, Delfina Tosi, Davide Soranna

Thyroid· February 2019

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MassARRAY-based simultaneous detection of hotspot somatic mutations and recurrent fusion genes in papillary thyroid carcinoma: the PTC-MA assay.
Chiara Pesenti, Marina Muzza, Carla Colombo, Maria Carla Proverbio, Claudia Farè

Endocrine· July 2018

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Transcriptional profiling of human bronchial epithelial cell BEAS-2B exposed to diesel and biomass ultrafine particles.
Andrea Grilli, Rossella Bengalli, Eleonora Longhin, Laura Capasso, Maria Carla Proverbio

BMC Genomics· April 2018

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Letter regarding the article: "Multiple HABP2 variants in familial papillary thyroid carcinoma: Contribution of a group of "thyroid-checked" controls" by Kern et al.
Carla Colombo, Laura Fugazzola, Marina Muzza, Maria Carla Proverbio, Valentina Cirello

Eur J Med Genet· February 2018

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The role of IL-6 released from pulmonary epithelial cells in diesel UFP-induced endothelial activation.
Rossella Bengalli, Eleonora Longhin, Sara Marchetti, Maria C Proverbio, Cristina Battaglia

Environ Pollut· December 2017

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Segregation and expression analyses of hyaluronan-binding protein 2 (HABP2): insights from a large series of familial non-medullary thyroid cancers and literature review.
Carla Colombo, Marina Muzza, Maria Carla Proverbio, Giulia Ercoli, Michela Perrino

Clin Endocrinol (Oxf)· June 2017

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Integrative transcriptomic and protein analysis of human bronchial BEAS-2B exposed to seasonal urban particulate matter.
Eleonora Longhin, Laura Capasso, Cristina Battaglia, Maria Carla Proverbio, Cristina Cosentino

Environ Pollut· February 2016

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Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.
Maria Carla Proverbio, Eleonora Mangano, Alessandra Gessi, Roberta Bordoni, Roberta Spinelli

PLoS One· March 2014

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Genetic analysis of Italian patients with congenital hyperinsulinism of infancy.
Paola Sogno Valin, Maria Carla Proverbio, Cecilia Diceglie, Alessandra Gessi, Stefania di Candia

Horm Res Paediatr· December 2013

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Gene expression profiling of A549 cells exposed to Milan PM2.5.
Maurizio Gualtieri, Eleonora Longhin, Michela Mattioli, Paride Mantecca, Valentina Tinaglia, Maria Carla Proverbio

Toxicol Lett· March 2012

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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.
Stefania Di Candia, Alessandra Gessi, Gino Pepe, Paola Sogno Valin, Eleonora Mangano, Maria Carla Proverbio

Eur J Endocrinol· June 2009

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Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy.
Laura Biagiotti, Maria Carla Proverbio, Laura Bosio, Fabio Gervasi, Ermanna Rovida

Exp Mol Pathol· August 2007

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Severe hypocalcemia due to a de novo mutation in the fifth transmembrane domain of the calcium-sensing receptor.
Stefano Mora, Ilaria Zamproni, Maria Carla Proverbio, Valentina Bozzetti, Giuseppe Chiumello

Am J Med Genet A· January 2006

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RNA-mediated interference indicates that SEL1L plays a role in pancreatic beta-cell growth.
Giuseppe Diaferia, Monica Cattaneo, Giuliana Saltini, Maria Carla Proverbio, Eugenia Monferini

DNA Cell Biol· August 2004

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Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor.
Jianxin Hu, Stefano Mora, Giovanna Weber, Ilaria Zamproni, Maria Carla Proverbio

J Bone Miner Res· April 2004

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Longitudinal changes in bone metabolism and bone mineral content in children with celiac disease during consumption of a gluten-free diet.
Graziano Barera, Sabrina Beccio, Maria Carla Proverbio, Stefano Mora

Am J Clin Nutr· January 2004

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Polymorphism of vitamin D receptor gene start codon in patients with calcium kidney stones.
Giuseppe Vezzoli, Laura Soldati, Maria Carla Proverbio, Donatella Adamo, Alessandro Rubinacci

J Nephrol· January 2003

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Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain.
Jianxin Hu, Stefano Mora, Giacomo Colussi, Maria Carla Proverbio, Kendra A Jones

J Bone Miner Res· August 2002

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Germline mutations of TSH receptor gene as cause of nonautoimmune subclinical hypothyroidism.
Luisella Alberti, Maria Carla Proverbio, Sabine Costagliola, Roberto Romoli, Benedetta Boldrighini

J Clin Endocrinol Metab· June 2002

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