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Human Mutation|August 31, 2018
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletionGrazia Nardella, Grazia Visci, Vito Guarnieri, et al.
Oncology Letters|July 12, 2017
Novel association of MEN1 gene mutations with parathyroid carcinomaLuigia Cinque, Angelo Sparaneo, Filomena Cetani, et al.
Acta Bio-Medica : Atenei Parmensis|November 10, 2020
Complications related to in vitro reproductive techniques support the implementation of natural procreative technologiesAysha Karim Kiani, Stefano Paolacci, Pietro Scanzano, et al.
Gene|December 25, 2012
20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosisMichele Ciavarella, Michelina Coco, Filomena Baorda, et al.
The Journal of Clinical Endocrinology and Metabolism|October 5, 2006
Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptorAlfredo Scillitani, Vito Guarnieri, Claudia Battista, et al.
Acta Bio-Medica : Atenei Parmensis|November 10, 2020
Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive testAysha Karim Kiani, Stefano Paolacci, Pietro Scanzano, et al.
Human Molecular Genetics|February 27, 2019
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variantsCarmela Fusco, Grazia Nardella, Rita Fischetto, et al.
The Journal of Clinical Endocrinology and Metabolism|October 4, 2014
Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohortsLeonardo D'Agruma, Michela Coco, Vito Guarnieri, et al.
Plos One|December 17, 2013
Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 geneValerio Pazienza, Annamaria la Torre, Filomena Baorda, et al.
Cellular Oncology (Dordrecht, Netherlands)|September 19, 2012
CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohortVito Guarnieri, Claudia Battista, Lucia Anna Muscarella, et al.
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