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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 7, 2002
Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domainJianxin Hu, Stefano Mora, Giacomo Colussi, et al.Clinical Endocrinology|June 1, 2017
Mild TSH resistance: Clinical and hormonal features in childhood and adulthoodMaria Cristina Vigone, Marianna Di Frenna, Fabiana Guizzardi, et al.Journal of Pediatric Gastroenterology and Nutrition|June 6, 2021
Predictive Fat Mass Equations for Children With Inflammatory Bowel DiseaseFrancesca Penagini, Alessandro Leone, Barbara Borsani, et al.Journal of Nephrology|October 19, 2006
Autosomal dominant hypocalcemia with mild type 5 Bartter syndromeGiuseppe Vezzoli, Teresa Arcidiacono, Vera Paloschi, et al.BMC Medical Genetics|April 11, 2012
Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activityJohanna Korvala, Harald Jüppner, Outi Mäkitie, et al.Hormone Research in Paediatrics|May 9, 2013
Genetic analysis of Italian patients with congenital hyperinsulinism of infancyPaola Sogno Valin, Maria Carla Proverbio, Cecilia Diceglie, et al.Experimental and Molecular Pathology|February 24, 2007
Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of InfancyLaura Biagiotti, Maria Carla Proverbio, Laura Bosio, et al.Plos One|July 23, 2013
Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinismMaria Carla Proverbio, Eleonora Mangano, Alessandra Gessi, et al.Journal of Endocrinological Investigation|June 24, 2026
Practical approach to the diagnosis, management, and treatment of pediatric patients with bone fragility: an expert opinionGiampiero I Baroncelli, Daniele Tessaris, Tommaso Aversa, et al.Frontiers in Endocrinology|May 6, 2024
Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and DiabetologyGiampiero I Baroncelli, Pasquale Comberiati, Tommaso Aversa, et al.Pageof 9