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Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Peluso F, Caraffi SG, Contrò G, Valeri L, Napoli M, Carboni G, Seth A, Zuntini R, Coccia E, Astrea G, Bisgaard AM, Ivanovski I, Maitz S, Brischoux-Boucher E, Carter MT, Dentici ML, Devriendt K, Bellini M, Digilio MC, Doja A, Dyment DA, Farholt S, Ferreira CR, Wolfe LA, Gahl WA, Gnazzo M, Goel H, Grønborg SW, Hammer T, Iughetti L, Kleefstra T, Koolen DA, Lepri FR, Lemire G, Louro P, McCullagh G, Madeo SF, Milone A, Milone R, Nielsen JEK, Novelli A, Ockeloen CW, Pascarella R, Pippucci T, Ricca I, Robertson SP, Sawyer S, Falkenberg Smeland M, Stegmann S, Stumpel CT, Goel A, Taylor JM, Barbuti D, Soresina A, Bedeschi MF, Battini R, Cavalli A, Fusco C, Iascone M, Van Maldergem L, Venkateswaran S, Zuffardi O, Vergano S, Garavelli L, Bayat A. Peluso F, et al. Among authors: iughetti l. J Med Genet. 2023 Nov 27;60(12):1224-1234. doi: 10.1136/jmg-2023-109141. J Med Genet. 2023. PMID: 37586838 Free PMC article. Review.
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.
Refinement of the diagnostic approach for the identification of children and adolescents affected by familial hypercholesterolemia: Evidence from the LIPIGEN study.
Casula M, Gazzotti M, Capra ME, Olmastroni E, Galimberti F, Catapano AL, Pederiva C; LIPIGEN Group and the LIPIGEN Paediatric Group. Casula M, et al. Atherosclerosis. 2023 Nov;385:117231. doi: 10.1016/j.atherosclerosis.2023.117231. Epub 2023 Aug 12. Atherosclerosis. 2023. PMID: 37648636 Free article.
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry.
D'Erasmo L, Bini S, Casula M, Gazzotti M, Bertolini S, Calandra S, Tarugi P, Averna M, Iannuzzo G, Fortunato G, Catapano AL, Arca M; LIPIGEN HoFH group. D'Erasmo L, et al. Eur J Prev Cardiol. 2024 Feb 20:zwae036. doi: 10.1093/eurjpc/zwae036. Online ahead of print. Eur J Prev Cardiol. 2024. PMID: 38374534
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: iughetti l. 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.
Effects of COVID-19-targeted non-pharmaceutical interventions on pediatric hospital admissions in North Italian hospitals, 2017 to 2022: a quasi-experimental study interrupted time-series analysis.
Maglietta G, Puntoni M, Caminiti C, Pession A, Lanari M, Caramelli F, Marchetti F, De Fanti A, Iughetti L, Biasucci G, Suppiej A, Miceli A, Ghizzi C, Vergine G, Aricò M, Stella M, Esposito S; Emilia-Romagna Paediatric COVID-19 network. Maglietta G, et al. Among authors: iughetti l. Front Public Health. 2024 Apr 18;12:1393677. doi: 10.3389/fpubh.2024.1393677. eCollection 2024. Front Public Health. 2024. PMID: 38699417 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: iughetti l. 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.
333 results