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Page 1
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.
Madeo SF, Zagaroli L, Vandelli S, Calcaterra V, Crinò A, De Sanctis L, Faienza MF, Fintini D, Guazzarotti L, Licenziati MR, Mozzillo E, Pajno R, Scarano E, Street ME, Wasniewska M, Bocchini S, Bucolo C, Buganza R, Chiarito M, Corica D, Di Candia F, Francavilla R, Fratangeli N, Improda N, Morabito LA, Mozzato C, Rossi V, Schiavariello C, Farello G, Iughetti L, Salpietro V, Salvatoni A, Giordano M, Grugni G, Delvecchio M. Madeo SF, et al. Among authors: pajno r. Front Endocrinol (Lausanne). 2024 Apr 26;15:1382583. doi: 10.3389/fendo.2024.1382583. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 38737552 Free PMC article. Review.
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency.
Migliavacca M, Barzaghi F, Fossati C, Rancoita PMV, Gabaldo M, Dionisio F, Giannelli S, Salerio FA, Ferrua F, Tucci F, Calbi V, Gallo V, Recupero S, Consiglieri G, Pajno R, Sambuco M, Priolo A, Ferri C, Garella V, Monti I, Silvani P, Darin S, Casiraghi M, Corti A, Zancan S, Levi M, Cesana D, Carlucci F, Pituch-Noworolska A, AbdElaziz D, Baumann U, Finocchi A, Cancrini C, Ladogana S, Meinhardt A, Meyts I, Montin D, Notarangelo LD, Porta F, Pasquet M, Speckmann C, Stepensky P, Tommasini A, Rabusin M, Karakas Z, Galicchio M, Leonardi L, Duse M, Guner SN, Di Serio C, Ciceri F, Bernardo ME, Aiuti A, Cicalese MP. Migliavacca M, et al. Among authors: pajno r. Nat Med. 2024 Feb;30(2):488-497. doi: 10.1038/s41591-023-02789-4. Epub 2024 Feb 14. Nat Med. 2024. PMID: 38355973 Free PMC article.
Urogenital Abnormalities in Adenosine Deaminase Deficiency.
Pajno R, Pacillo L, Recupero S, Cicalese MP, Ferrua F, Barzaghi F, Ricci S, Marzollo A, Pecorelli S, Azzari C, Finocchi A, Cancrini C, Di Matteo G, Russo G, Alfano M, Lesma A, Salonia A, Adams S, Booth C, Aiuti A. Pajno R, et al. J Clin Immunol. 2020 May;40(4):610-618. doi: 10.1007/s10875-020-00777-8. Epub 2020 Apr 19. J Clin Immunol. 2020. PMID: 32307643 Free PMC article.
Ictal central sleep-related apnoea in Prader-Willi syndrome.
Giacobbe A, Andreoli L, Mauri E, Pajno R, Patria F, Pinzani R, Costantino AM, Barbieri S, Dilena R. Giacobbe A, et al. Among authors: pajno r. Epileptic Disord. 2022 Oct 1;24(5):957-960. doi: 10.1684/epd.2022.1455. Epileptic Disord. 2022. PMID: 35811433 Free article. English. No abstract available.
Anthropometric characteristics of newborns with Prader-Willi syndrome.
Salvatoni A, Moretti A, Grugni G, Agosti M, Azzolini S, Bonaita V, Cianci P, Corica D, Crinò A, Delvecchio M, Ferraris S, Greggio NA, Iughetti L, Licenziati MR, Madeo SF, Nosetti L, Pajno R, Rutigliano I, Sacco M, Salvatore S, Scarano E, Trifirò G, Wasniewska M. Salvatoni A, et al. Among authors: pajno r. Am J Med Genet A. 2019 Oct;179(10):2067-2074. doi: 10.1002/ajmg.a.61304. Epub 2019 Jul 30. Am J Med Genet A. 2019. PMID: 31361394
First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature.
Migliavacca M, Assanelli A, Ponzoni M, Pajno R, Barzaghi F, Giglio F, Ferrua F, Frittoli M, Brigida I, Dionisio F, Nicoletti R, Casiraghi M, Roncarolo MG, Doglioni C, Peccatori J, Ciceri F, Cicalese MP, Aiuti A. Migliavacca M, et al. Among authors: pajno r. Front Immunol. 2018 Feb 2;9:113. doi: 10.3389/fimmu.2018.00113. eCollection 2018. Front Immunol. 2018. PMID: 29456531 Free PMC article. Review.
Diazoxide toxicity in congenital hyperinsulinism: A case report.
Pajno R, Visconti C, Bucolo C, Guarneri MP, Del Barba P, Silvani P, Gregnanin M, Barera G. Pajno R, et al. World J Clin Pediatr. 2024 Dec 9;13(4):94156. doi: 10.5409/wjcp.v13.i4.94156. eCollection 2024 Dec 9. World J Clin Pediatr. 2024. PMID: 39654669 Free PMC article.
Outcomes of noninvasive ventilation as the ceiling of treatment in patients with COVID-19.
Ramirez GA, Bozzolo EP, Gobbi A, Castelli E, Centurioni C, DI Meo M, Della Torre E, DI Scala F, Morgillo A, Marinosci A, Miglio M, Scarpellini P, Tassan Din C, Castiglioni B, Oltolini C, Ripa M, DI Terlizzi G, DA Prat V, Damanti S, Scotti R, DI Lucca G, Baiardo Redaelli M, Plumari VP, Moizo E, Carcó F, Silvani P, DE Cobelli F, Landoni G, Tresoldi M; COVID-BioB group. Ramirez GA, et al. Panminerva Med. 2022 Dec;64(4):506-516. doi: 10.23736/S0031-0808.21.04280-4. Epub 2021 Apr 16. Panminerva Med. 2022. PMID: 33860653
Multicentric Italian case-control study on 25OH vitamin D levels in children and adolescents with Prader-Willi syndrome.
Panfili FM, Convertino A, Grugni G, Mazzitelli L, Bocchini S, Crinò A, Campana G, Cappa M, Delvecchio M, Faienza MF, Licenziati MR, Mariani M, Osimani S, Pajno R, Patti G, Rutigliano I, Sacco M, Scarano E, Fintini D; on behalf of the Genetic Obesity Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED). Panfili FM, et al. Among authors: pajno r. J Endocrinol Invest. 2023 Jul;46(7):1397-1406. doi: 10.1007/s40618-022-01990-5. Epub 2023 Jan 28. J Endocrinol Invest. 2023. PMID: 36708456
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