Sfoglia per AUTORE
DE SANCTIS L
Collezione AOU Città della Salute di Torino

  

Items : 20

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations. in Clinical genetics / Clin Genet. 2025 Mar;107(3):354-358. doi: 10.1111/cge.14654. Epub 2024 Nov 27.
2025
AO Cuneo
AOU San Luigi di Orbassano
AOU Città della Salute di Torino

Ferrero GB; Brusco A; Buxbaum JD; Tartaglia M; Sadikovic B; De Rubeis S; Cardaropoli S; Bruselles A; Balzo M; Todd E; Rzasa J; McConkey H; Kerkhof J; De Sanctis L; Mantovani G; Sorasio L; Carestiato S; Trajkova S; Pavinato L;

Paediatric type 1 diabetes mellitus: A comparison between multi-injection therapy and advanced hybrid closed-loop pump in the first year after diabetes onset. in Diabetes, obesity & metabolism / Diabetes Obes Metab. 2024 Sep;26(9):4100-4104. doi: 10.1111/dom.15704. Epub 2024 Jun 11.
2024
AOU Città della Salute di Torino

Trada M; Rosso A; Baretta I; Nobili C; Tinti D; de Sanctis L;

Functional evaluation of a novel nonsense variant of the calcium-sensing receptor gene leading to hypocalcemia. in European journal of endocrinology / Eur J Endocrinol. 2024 Mar 30;190(4):296-306. doi: 10.1093/ejendo/lvae035.
2024
AOU Città della Salute di Torino

Saglia C; Arruga F; Scolari C; Kalantari S; Albanese S; Bracciamà V; Corso Faini A; Brach Del Prever G; Luca M; Romeo C; Mioli F; Migliorero M; Tessaris D; Carli D; Amoroso A; Vaisitti T; De Sanctis L; Deaglio S;

Neurological dysfunction screening in a cohort of adolescents with type 1 diabetes: a six-year follow-up. in Frontiers in medicine / Front Med (Lausanne). 2024 May 9;11:1331145. doi: 10.3389/fmed.2024.1331145. eCollection 2024.
2024
AOU Città della Salute di Torino

Rabbone I; Daniele E; Marcotulli D; Nobili C; Canavese C; Tinti D; de Sanctis L;

Pediatric Myxedema Due to Autoimmune Hypothyroidism: A Rare Complication of a Common Disorder. in Children (Basel, Switzerland) / Children (Basel). 2023 Mar 24;10(4):614. doi: 10.3390/children10040614.
2023
AOU Città della Salute di Torino

Bonino E; Matarazzo P; Buganza R; Tuli G; Munarin J; Bondone C; de Sanctis L;

Trends and cyclic variation in the incidence of childhood type 1 diabetes in two Italian regions over 33?years and during the COVID-19 pandemic. in Diabetes, obesity & metabolism / Diabetes Obes Metab. 2023 Jun;25(6):1698-1703. doi: 10.1111/dom.15024. Epub 2023 Mar 9.
2023
ASL Torino 5
AOU Città della Salute di Torino

Cherubini V; Carle F; Tinti D; Favella L; Giorda C; Iannilli A; Tiberi V; Marconi V; De Sanctis L; Marino M; Rabbone I; Gesuita R;

COVID-19 forced restrictions did not affect metabolic control in youth with T2D in Italy. in Nutrition, metabolism, and cardiovascular diseases : NMCD / Nutr Metab Cardiovasc Dis. 2023 Jan;33(1):232-233. doi: 10.1016/j.numecd.2022.10.012. Epub 2022 Oct
2023
AOU Città della Salute di Torino

Tinti D; Piscopo A; Tiberi V; Zanfardino A; Predieri B; Minuto N; Rabbone I; Delvecchio M; Arnaldi C; Gallo F; Calcaterra V; Mozzillo E; Lenzi L; Maltoni G; De Sanctis L; Cherubini V; Iafusco D; Zucchini S; Rapini N; Toni S; Schiaffini R;

The Italian registry for patients with Prader-Willi syndrome. in Orphanet journal of rare diseases / Orphanet J Rare Dis. 2023 Feb 15;18(1):28. doi: 10.1186/s13023-023-02633-5.
2023
AOU Città della Salute di Torino

Salvatore M; Torreri P; Grugni G; Rocchetti A; Maghnie M; Patti G; Crinò A; Elia M; Greco D; Romano C; Franzese A; Mozzillo E; Colao A; Pugliese G; Pagotto U; Lo Preiato V; Scarano E; Schiavariello C; Tornese G; Fintini D; Bocchini S; Osimani S; De Sanctis L; Sacco M; Rutigliano I; Delvecchio M; Faienza MF; Wasniewska M; Corica D; et alii...

Menorrhagia as main presentation sign of severe hypothyroidism in a pediatric patient: a case report. in Italian journal of pediatrics / Ital J Pediatr. 2022 Sep 11;48(1):171. doi: 10.1186/s13052-022-01363-x.
2022
AOU Città della Salute di Torino

Barbero A; Pagano M; Tuli G; Buganza R; de Sanctis L; Bondone C;

Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome. in Genes, chromosomes & cancer / Genes Chromosomes Cancer. 2022 Dec;61(12):740-746. doi: 10.1002/gcc.23092. Epub 2022 Sep 19.
2022
AOU Città della Salute di Torino

Medico E; Brusco A; Ramenghi U; Palumbo M; Pullano V; Lepri FR; Cesario C; La Selva R; Coppo P; Tessaris D; Cardaropoli S; Carli D; De Sanctis L; Ferrero GB; Mussa A;

Increase in newly diagnosed type 1 diabetes and serological evidence of recent SARS-CoV-2 infection: Is there a connection? in Frontiers in medicine / Front Med (Lausanne). 2022 Jul 28;9:927099. doi: 10.3389/fmed.2022.927099. eCollection 2022.
2022
AOU Città della Salute di Torino

Garazzino S; Bondone C; Rosati S; Moretto M; Novara C; Funiciello E; Tinti D; Trada M; Denina M; De Sanctis L;

Case Report: Role of Ketone Monitoring in Diabetic Ketoacidosis With Acute Kidney Injury: Better Safe Than Sorry. in Frontiers in pediatrics / Front Pediatr. 2022 May 6;10:869299. doi: 10.3389/fped.2022.869299. eCollection 2022.
2022
AOU Città della Salute di Torino

De Sanctis L; Peruzzi L; Savastio S; Tinti D; Rabbone I;

Corrigendum: The silent epidemic of diabetic ketoacidosis at diagnosis of type 1 diabetes in children and adolescents in italy during the covid-19 pandemic in 2020. in Frontiers in endocrinology / Front Endocrinol (Lausanne). 2022 Aug 4;13:977211. doi: 10.3389/fendo.2022.977211. eCollection 2022.
2022
AOU Città della Salute di Torino
AOU Novara

Zucchini S; Rabbone I; Moretti C; Pozzi E; Matteoli MC; Lenzi L; Iannilli A; Talarico V; Maltoni G; Musolino G; Franco F; Tornese G; Cauvin V; Guerraggio LP; Franceschi R; Trada M; De Sanctis L; Tinti D; Meloni G; Schiaffini R; Rutigliano I; Patera PI; Pampanini V; Lasagni A; Berioli MG; Iovane B; Calcaterra V; Piredda G; Cardella F; et alii...

The Silent Epidemic of Diabetic Ketoacidosis at Diagnosis of Type 1 Diabetes in Children and Adolescents in Italy During the COVID-19 Pandemic in 2020. in Frontiers in endocrinology / Front Endocrinol (Lausanne). 2022 Jun 17;13:878634. doi: 10.3389/fendo.2022.878634. eCollection 2022
2022
AOU Città della Salute di Torino
AOU Novara

Gesuita R; Rabbone I; Zucchini S; Moretti C; Pozzi E; Matteoli MC; Lenzi L; Iannilli A; Talarico V; Maltoni G; Musolino G; Franco F; Tornese G; Cauvin V; Franceschi R; Guerraggio LP; Trada M; Tinti D; De Sanctis L; Meloni G; Rutigliano I; Schiaffini R; Patera PI; Pampanini V; Lasagni A; Berioli MG; Calcaterra V; Iovane B; Cardella F; et alii...

Impact of lockdown during COVID-19 emergency on glucose metrics of children and adolescents with type 1 diabetes in Piedmont, Italy. in Acta diabetologica / Acta Diabetol. 2021 Jul;58(7):959-961. doi: 10.1007/s00592-021-01702-0. Epub 2021 Mar 15.
2021
AO Cuneo
AOU Città della Salute di Torino

Tappi E; Felici E; Pozzi E; Marchisio M; Franceschi L; Bertelli E; Nugnes M; De Donno V; Trada M; Grosso C; De Sanctis L; Savastio S; Tinti D; Rabbone I;

Variants in the 5'UTR reduce SHOX expression and contribute to SHOX haploinsufficiency. in European journal of human genetics : EJHG / Eur J Hum Genet. 2021 Jan;29(1):110-121. doi: 10.1038/s41431-020-0676-y. Epub 2020 Jul 9.
2021
AOU Città della Salute di Torino
AOU Novara

Prodam F; De Sanctis L; Stuppia L; Monzani A; Vinci G; Bellone S; Grandone A; Corrado L; Essa WA; Baffico AM; Mellone S; Fanelli A; Vannelli S; Babu D; Giordano M;

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients. in European journal of endocrinology / Eur J Endocrinol. 2021 Feb;184(2):311-320. doi: 10.1530/EJE-20-0625.
2021
AOU Città della Salute di Torino

Pereda A; Elli FM; Thiele S; de Sanctis L; Rothenbuhler A; Hanna P; Francou B; Ertl DA; Perez de Nanclares G; Linglart A; Mantovani G;

Growth Assessment in Preterm Children from Birth to Preschool Age. in Nutrients / Nutrients. 2020 Jun 30;12(7):1941. doi: 10.3390/nu12071941.
2020
AOU Città della Salute di Torino
ASL Biella

Ceratto S; Savino F; Vannelli S; De Sanctis L; Giuliani F;

2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance. in Frontiers in endocrinology / Front Endocrinol (Lausanne). 2019 Aug 29;10:604. doi: 10.3389/fendo.2019.00604. eCollection 2019.
2019
AOU Città della Salute di Torino

Arosio M; Pirelli A; Bordogna P; Maffini MA; Madeo B; de Sanctis L; Elli FM; Mantovani G;

Combining Real-Time COLD- and MAMA-PCR TaqMan Techniques to Detect and Quantify R201 GNAS Mutations in the McCune-Albright Syndrome?. in Hormone research in paediatrics / Horm Res Paediatr. 2017;87(5):342-349. doi: 10.1159/000463384. Epub 2017 Mar 23.
2017
AOU Città della Salute di Torino

de Sanctis L; Galliano I; Montanari P; Matarazzo P; Tessaris D; Bergallo M;