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A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.
Palumbo S, Cirillo G, Sanchez G, Aiello F, Fachin A, Baldo F, Pellegrin MC, Cassio A, Salerno M, Maghnie M, Faienza MF, Wasniewska M, Fintini D, Giacomozzi C, Ciccone S, Miraglia Del Giudice E, Tornese G, Grandone A. Palumbo S, et al. Among authors: maghnie m. J Endocrinol Invest. 2023 Jun;46(6):1233-1240. doi: 10.1007/s40618-022-01997-y. Epub 2022 Dec 28. J Endocrinol Invest. 2023. PMID: 36577869
New understandings of the genetic basis of isolated idiopathic central hypogonadism.
Bonomi M, Libri DV, Guizzardi F, Guarducci E, Maiolo E, Pignatti E, Asci R, Persani L; Idiopathic Central Hypogonadism Study Group of the Italian Societies of Endocrinology and Pediatric Endocrinology and Diabetes. Bonomi M, et al. Asian J Androl. 2012 Jan;14(1):49-56. doi: 10.1038/aja.2011.68. Epub 2011 Dec 5. Asian J Androl. 2012. PMID: 22138902 Free PMC article. Review.
Whole genome sequencing in ROHHAD trios proved inconclusive: what's beyond?
Grossi A, Rusmini M, Cusano R, Massidda M, Santamaria G, Napoli F, Angelelli A, Fava D, Uva P, Ceccherini I, Maghnie M. Grossi A, et al. Among authors: maghnie m. Front Genet. 2023 Aug 7;14:1031074. doi: 10.3389/fgene.2023.1031074. eCollection 2023. Front Genet. 2023. PMID: 37609037 Free PMC article.
Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry.
Calcaterra V, Tornese G, Zuccotti G, Staiano A, Cherubini V, Gaudino R, Fazzi EM, Barbi E, Chiarelli F, Corsello G, Esposito SMR, Ferrara P, Iughetti L, Laforgia N, Maghnie M, Marseglia G, Perilongo G, Pettoello-Mantovani M, Ruggieri M, Russo G, Salerno M, Striano P, Valerio G, Wasniewska M; Italian Academy of Pediatrics, Italian Society of Pediatrics, Italian Society for Pediatric Endocrinology and Diabetes, Italian Society of Adolescent Medicine, Italian Society of Child and Adolescent Neuropsychiatry. Calcaterra V, et al. Among authors: maghnie m. Ital J Pediatr. 2024 Apr 18;50(1):73. doi: 10.1186/s13052-024-01644-7. Ital J Pediatr. 2024. PMID: 38637868 Free PMC article.
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V, Maroofian R, Zaki MS, Wangen J, Ciolfi A, Barresi S, Efthymiou S, Lamaze A, Aughey GN, Al Mutairi F, Rad A, Rocca C, Calì E, Accogli A, Zara F, Striano P, Mojarrad M, Tariq H, Giacopuzzi E, Taylor JC, Oprea G, Skrahina V, Rehman KU, Abd Elmaksoud M, Bassiony M, El Said HG, Abdel-Hamid MS, Al Shalan M, Seo G, Kim S, Lee H, Khang R, Issa MY, Elbendary HM, Rafat K, Marinakis NM, Traeger-Synodinos J, Ververi A, Sourmpi M, Eslahi A, Khadivi Zand F, Beiraghi Toosi M, Babaei M, Jackson A; SYNAPS Study Group; Bertoli-Avella A, Pagnamenta AT, Niceta M, Battini R, Corsello A, Leoni C, Chiarelli F, Dallapiccola B, Faqeih EA, Tallur KK, Alfadhel M, Alobeid E, Maddirevula S, Mankad K, Banka S, Ghayoor-Karimiani E, Tartaglia M, Chung WK, Green R, Alkuraya FS, Jepson JEC, Houlden H. Salpietro V, et al. Am J Hum Genet. 2024 Jan 4;111(1):200-210. doi: 10.1016/j.ajhg.2023.11.012. Epub 2023 Dec 20. Am J Hum Genet. 2024. PMID: 38118446 Free PMC article.
Physician experience with once-weekly somatrogon versus once-daily rhGH regimen in pediatric patients with growth hormone deficiency: a cross-sectional survey of physicians from the global phase 3 study.
Gomez R, Lamoureux R, Turner-Bowker DM, Loftus J, Maghnie M, Miller BS, Polak M, Yaworsky A. Gomez R, et al. Among authors: maghnie m. Front Endocrinol (Lausanne). 2023 Oct 17;14:1254424. doi: 10.3389/fendo.2023.1254424. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37955005 Free PMC article. Clinical Trial.
288 results