Growth Assessment in Preterm Children from Birth to Preschool Age

by Simone Ceratto, Francesco Savino, Silvia Vannelli, Luisa De Sanctis, Francesca Giuliani
Published 2020-06-01

“Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature”

by Gerdi Tuli, Jessica Munarin, Daniele Tessaris, Raffaele Buganza, Patrizia Matarazzo, Luisa De Sanctis
Published 2021-01-01

Jaffe-Campanacci syndrome or neurofibromatosis type 1: a case report of phenotypic overlap with detection of NF1 gene mutation in non-ossifying fibroma

by Silvia Vannelli, Raffaele Buganza, Federica Runfola, Ilaria Mussinatto, Antonio Andreacchio, Luisa de Sanctis
Published 2020-05-01

Compound heterozygosity for two GHR missense mutations in a patient affected by Laron Syndrome: a case report

by Stefania Moia, Daniele Tessaris, Silvia Einaudi, Luisa de Sanctis, Gianni Bona, Simonetta Bellone, Flavia Prodam
Published 2017-10-01

Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy in Two Siblings: Same Mutations but Very Different Phenotypes

by Andrea Carpino, Raffaele Buganza, Patrizia Matarazzo, Gerdi Tuli, Michele Pinon, Pier Luigi Calvo, Davide Montin, Francesco Licciardi, Luisa De Sanctis
Published 2021-01-01

SHOX deficiency in children with growth impairment: evaluation of known and new auxological and radiological indicators

by Silvia Vannelli, Maria Baffico, Raffaele Buganza, Francesca Verna, Giulia Vinci, Daniele Tessaris, Gianpaolo Di Rosa, Alberto Borraccino, Luisa de Sanctis
Published 2020-11-01

Multidisciplinary Approach for Hypothalamic Obesity in Children and Adolescents: A Preliminary Study

by Daniele Tessaris, Patrizia Matarazzo, Gerdi Tuli, Antonella Tuscano, Ivana Rabbone, Alessandra Spinardi, Antonella Lezo, Giorgia Fenocchio, Raffaele Buganza, Luisa de Sanctis
Published 2021-06-01

Pseudohypoparathyroidism: application of the Italian common healthcare-pathway for a homogeneous clinical approach and a shared follow up

by Daniele Tessaris, Elisa Bonino, Giovanna Weber, Malgorzata Wasniewska, Domenico Corica, Marco Pitea, Giuseppe Scirè, Manuela Caruso-Nicoletti, Danilo Fintini, Luisa de Sanctis
Published 2021-03-01

2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance

by Francesca Marta Elli, Luisa de Sanctis, Bruno Madeo, Maria A. Maffini, Paolo Bordogna, Arianna Pirelli, Maura Arosio, Maura Arosio, Giovanna Mantovani, Giovanna Mantovani
Published 2019-08-01

Improved Molecular Diagnosis of McCune–Albright Syndrome and Bone Fibrous Dysplasia by Digital PCR

by Francesca Marta Elli, Luisa de Sanctis, Massimiliano Bergallo, Maria Antonia Maffini, Arianna Pirelli, Ilaria Galliano, Paolo Bordogna, Maura Arosio, Maura Arosio, Giovanna Mantovani, Giovanna Mantovani
Published 2019-09-01

The European Registry for Rare Bone and Mineral Conditions (EuRR-Bone): First year experience of the use of an e-reporting tool

by Ana Luisa Priego Zurita, Agnès Linglart, Inês Alves, Renata Simona Auriemma, Manila Boarini, Jillian Bryce, Luisa DeSanctis, Diana-Alexandra Ertl, Hoong-Wei Gan, Corinna Grasemann, Wolfgang Högler, M. Kassim Javaid, Klaus Mohnike, Marina Mordenti, Adalbert Raimann, Luca Sangiorgi, Marco Roos, Rebecca Skarberg, Ondrej Soucek, Judit Toke, Erica van den Akker, Almudena Vicente, Ahmed S. Faisal, Natasha Appelman-Dijkstra
Published 2021-04-01