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

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

Growth Assessment in Preterm Children from Birth to Preschool Age

Tekijä Ceratto, Simone, Savino, Francesco, Vannelli, Silvia, De Sanctis, Luisa, Giuliani, Francesca
Julkaisussa 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

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

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

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

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

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

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

Tekijä Moia, Stefania, Tessaris, Daniele, Einaudi, Silvia, de Sanctis, Luisa, Bona, Gianni, Bellone, Simonetta, Prodam, Flavia
Julkaisussa 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...

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

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

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

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

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

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

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

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

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

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

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

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

Tekijä Tessaris, Daniele, Bonino, Elisa, Weber, Giovanna, Wasniewska, Malgorzata, Corica, Domenico, Pitea, Marco, Scirè, Giuseppe, Caruso-Nicoletti, Manuela, Fintini, Danilo, de Sanctis, Luisa
Julkaisussa 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

Tekijä 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
Julkaisussa Acta Diabetol (2021)

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

Tekijä 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
Julkaisussa 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()

Tekijä 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
Julkaisussa 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...

Tekijä 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
Julkaisussa Thyroid (2021)

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

Tekijä 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
Julkaisussa Horm Res Paediatr (2020)

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

Tekijä 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
Julkaisussa Nat Rev Endocrinol (2018)