Tolvaptan Treatment in Children with Chronic Hyponatremia due to Inappropriate Antidiuretic Hormone Secretion: A Report of Three Cases

ανά Tuli, Gerdi, Tessaris, Daniele, Einaudi, Silvia, De Sanctis, Luisa, Matarazzo, Patrizia
Τόπος έκδοσης J Clin Res Pediatr Endocrinol (2017)

Growth Assessment in Preterm Children from Birth to Preschool Age

ανά Ceratto, Simone, Savino, Francesco, Vannelli, Silvia, De Sanctis, Luisa, Giuliani, Francesca
Τόπος έκδοσης Nutrients (2020)

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

ανά Vannelli, Silvia, Buganza, Raffaele, Runfola, Federica, Mussinatto, Ilaria, Andreacchio, Antonio, de Sanctis, Luisa
Τόπος έκδοσης Ital J Pediatr (2020)

Distribution of plasma copeptin levels and influence of obesity in children and adolescents

ανά Tuli, Gerdi, Munarin, Jessica, Tessaris, Daniele, Einaudi, Silvia, Matarazzo, Patrizia, de Sanctis, Luisa
Τόπος έκδοσης Eur J Pediatr (2020)

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

ανά Tuli, Gerdi, Munarin, Jessica, Tessaris, Daniele, Buganza, Raffaele, Matarazzo, Patrizia, De Sanctis, Luisa
Τόπος έκδοσης Case Rep Endocrinol (2021)

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

ανά Moia, Stefania, Tessaris, Daniele, Einaudi, Silvia, de Sanctis, Luisa, Bona, Gianni, Bellone, Simonetta, Prodam, Flavia
Τόπος έκδοσης Ital J Pediatr (2017)

Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-r...

ανά Thiele, Susanne, de Sanctis, Luisa, Werner, Ralf, Grötzinger, Joachim, Aydin, Cumhur, Jüppner, Harald, Bastepe, Murat, Hiort, Olaf
Έκδοση 2011

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

ανά Elli, Francesca Marta, de Sanctis, Luisa, Madeo, Bruno, Maffini, Maria A., Bordogna, Paolo, Pirelli, Arianna, Arosio, Maura, Mantovani, Giovanna
Τόπος έκδοσης Front Endocrinol (Lausanne) (2019)

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

ανά Vannelli, Silvia, Baffico, Maria, Buganza, Raffaele, Verna, Francesca, Vinci, Giulia, Tessaris, Daniele, Di Rosa, Gianpaolo, Borraccino, Alberto, de Sanctis, Luisa
Τόπος έκδοσης Ital J Pediatr (2020)

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

ανά Carpino, Andrea, Buganza, Raffaele, Matarazzo, Patrizia, Tuli, Gerdi, Pinon, Michele, Calvo, Pier Luigi, Montin, Davide, Licciardi, Francesco, De Sanctis, Luisa
Τόπος έκδοσης Genes (Basel) (2021)

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

ανά Elli, Francesca Marta, de Sanctis, Luisa, Bergallo, Massimiliano, Maffini, Maria Antonia, Pirelli, Arianna, Galliano, Ilaria, Bordogna, Paolo, Arosio, Maura, Mantovani, Giovanna
Τόπος έκδοσης Front Genet (2019)

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

ανά Tessaris, Daniele, Matarazzo, Patrizia, Tuli, Gerdi, Tuscano, Antonella, Rabbone, Ivana, Spinardi, Alessandra, Lezo, Antonella, Fenocchio, Giorgia, Buganza, Raffaele, de Sanctis, Luisa
Τόπος έκδοσης Children (Basel) (2021)

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

ανά Tessaris, Daniele, Bonino, Elisa, Weber, Giovanna, Wasniewska, Malgorzata, Corica, Domenico, Pitea, Marco, Scirè, Giuseppe, Caruso-Nicoletti, Manuela, Fintini, Danilo, de Sanctis, Luisa
Τόπος έκδοσης Ital J Pediatr (2021)

Impact of lockdown during COVID-19 emergency on glucose metrics of children and adolescents with type 1 diabetes in Piedmont, Italy

ανά Tinti, Davide, Savastio, Silvia, Grosso, Caterina, De Donno, Valeria, Trada, Michela, Nugnes, Martina, Bertelli, Enrica, Franceschi, Luisa, Marchisio, Martina, Pozzi, Erica, Tappi, Eleonora, Felici, Enrico, De Sanctis, Luisa, Rabbone, Ivana
Τόπος έκδοσης Acta Diabetol (2021)

Variants in the 5′UTR reduce SHOX expression and contribute to SHOX haploinsufficiency

ανά Babu, Deepak, Vannelli, Silvia, Fanelli, Antonella, Mellone, Simona, Baffico, Ave Maria, Corrado, Lucia, Essa, Wael Al, Grandone, Anna, Bellone, Simonetta, Monzani, Alice, Vinci, Giulia, De Sanctis, Luisa, Stuppia, Liborio, Prodam, Flavia, Giordano, Mara
Τόπος έκδοσης Eur J Hum Genet (2020)

Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity()

ανά Hanna, Patrick, Grybek, Virginie, de Nanclares, Guiomar Perez, Tran, Léa C., de Sanctis, Luisa, Elli, Francesca, Errea, Javier, Francou, Bruno, Kamenicky, Peter, Linglart, Léa, Pereda, Arrate, Rothenbuhler, Anya, Tessaris, Daniele, Thiele, Susanne, Usardi, Alessia, Shoemaker, Ashley H., Kottler, Marie-Laure, Jüppner, Harald, Mantovani, Giovanna, Linglart, Agnès
Τόπος έκδοσης J Bone Miner Res (2018)

Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and th...

ανά van Trotsenburg, Paul, Stoupa, Athanasia, Léger, Juliane, Rohrer, Tilman, Peters, Catherine, Fugazzola, Laura, Cassio, Alessandra, Heinrichs, Claudine, Beauloye, Veronique, Pohlenz, Joachim, Rodien, Patrice, Coutant, Regis, Szinnai, Gabor, Murray, Philip, Bartés, Beate, Luton, Dominique, Salerno, Mariacarolina, de Sanctis, Luisa, Vigone, Mariacristina, Krude, Heiko, Persani, Luca, Polak, Michel
Τόπος έκδοσης Thyroid (2021)

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

ανά Mantovani, Giovanna, Bastepe, Murat, Monk, David, de Sanctis, Luisa, Thiele, Susanne, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M., Ramirez, Aurora Garcia, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen A.T., Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, Minagawa, Manasori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebeca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H., Shore, Eileen M., Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M. Carola, de Nanclares, Guiomar Perez, Linglart, Agnès
Τόπος έκδοσης Horm Res Paediatr (2020)

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

ανά Mantovani, Giovanna, Bastepe, Murat, Monk, David, de Sanctis, Luisa, Thiele, Susanne, Usardi, Alessia, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M., Freson, Kathleen, García Ramirez, Aurora, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen, Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Kottler, Marie-Laure, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, Minagawa, Masanori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebecca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H., Shore, Eileen M., Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M. Carola, Perez de Nanclares, Guiomar, Linglart, Agnès
Τόπος έκδοσης Nat Rev Endocrinol (2018)