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Page 1
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, Tartaglia M. Dentici ML, et al. Among authors: mucciolo m. Eur J Hum Genet. 2024 Aug;32(8):954-963. doi: 10.1038/s41431-024-01642-7. Epub 2024 Jun 1. Eur J Hum Genet. 2024. PMID: 38824261
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
Rapini N, Delvecchio M, Mucciolo M, Ruta R, Rabbone I, Cherubini V, Zucchini S, Cianfarani S, Prandi E, Schiaffini R, Bizzarri C, Piccini B, Maltoni G, Predieri B, Minuto N, Di Paola R, Giordano M, Tinto N, Grasso V, Russo L, Tiberi V, Scaramuzza A, Frontino G, Maggio MC, Musolino G, Piccinno E, Tinti D, Carrera P, Mozzillo E, Cappa M, Iafusco D, Bonfanti R, Novelli A, Barbetti F; Diabetes Study Group of Italian Society for Pediatric Endocrinology and Diabetes (ISPED). Rapini N, et al. Among authors: mucciolo m. J Clin Endocrinol Metab. 2024 Aug 13;109(9):2349-2357. doi: 10.1210/clinem/dgae095. J Clin Endocrinol Metab. 2024. PMID: 38408297 Free PMC article.
Correction to: Monogenic diabetes clinic (MDC): 3‑year experience.
Rapini N, Patera PI, Schiaffini R, Ciampalini P, Pampanini V, Cristina MM, Deodati A, Bracaglia G, Porzio O, Ruta R, Novelli A, Mucciolo M, Cianfarani S, Barbetti F. Rapini N, et al. Among authors: mucciolo m. Acta Diabetol. 2023 Jan;60(1):71. doi: 10.1007/s00592-022-01998-6. Acta Diabetol. 2023. PMID: 36334152 Free PMC article. No abstract available.
Monogenic diabetes clinic (MDC): 3-year experience.
Rapini N, Patera PI, Schiaffini R, Ciampalini P, Pampanini V, Cristina MM, Deodati A, Bracaglia G, Porzio O, Ruta R, Novelli A, Mucciolo M, Cianfarani S, Barbetti F. Rapini N, et al. Among authors: mucciolo m. Acta Diabetol. 2023 Jan;60(1):61-70. doi: 10.1007/s00592-022-01972-2. Epub 2022 Sep 30. Acta Diabetol. 2023. PMID: 36178555 Free PMC article.
Sulfonylurea-Insensitive Permanent Neonatal Diabetes Caused by a Severe Gain-of-Function Tyr330His Substitution in Kir6.2.
McClenaghan C, Rapini N, De Rose DU, Gao J, Roeglin J, Bizzarri C, Schiaffini R, Tiberi E, Mucciolo M, Deodati A, Perri A, Vento G, Barbetti F, Nichols CG, Cianfarani S. McClenaghan C, et al. Among authors: mucciolo m. Horm Res Paediatr. 2022;95(3):215-223. doi: 10.1159/000521858. Epub 2022 Jan 7. Horm Res Paediatr. 2022. PMID: 34999583 Free PMC article.
Prevalence of copy number variants (CNVs) and rhGH treatment efficacy in an Italian cohort of children born small for gestational age (SGA) with persistent short stature associated with a complex clinical phenotype.
Inzaghi E, Deodati A, Loddo S, Mucciolo M, Verdecchia F, Sallicandro E, Catino G, Cappa M, Novelli A, Cianfarani S. Inzaghi E, et al. Among authors: mucciolo m. J Endocrinol Invest. 2022 Jan;45(1):79-87. doi: 10.1007/s40618-021-01617-1. Epub 2021 Jul 13. J Endocrinol Invest. 2022. PMID: 34255311
Differences between transient neonatal diabetes mellitus subtypes can guide diagnosis and therapy.
Bonfanti R, Iafusco D, Rabbone I, Diedenhofen G, Bizzarri C, Patera PI, Reinstadler P, Costantino F, Calcaterra V, Iughetti L, Savastio S, Favia A, Cardella F, Lo Presti D, Girtler Y, Rabbiosi S, D'Annunzio G, Zanfardino A, Piscopo A, Casaburo F, Pintomalli L, Russo L, Grasso V, Minuto N, Mucciolo M, Novelli A, Marucci A, Piccini B, Toni S, Silvestri F, Carrera P, Rigamonti A, Frontino G, Trada M, Tinti D, Delvecchio M, Rapini N, Schiaffini R, Mammì C, Barbetti F; Diabetes Study Group of ISPED. Bonfanti R, et al. Among authors: mucciolo m. Eur J Endocrinol. 2021 Apr;184(4):575-585. doi: 10.1530/EJE-20-1030. Eur J Endocrinol. 2021. PMID: 33606663
Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin.
Bizzarri C, Antonella Giannone G, Gervasoni J, Benedetti S, Albanese F, Dello Strologo L, Guzzo I, Mucciolo M, Diomedi Camassei F, Emma F, Cappa M, Porzio O. Bizzarri C, et al. Among authors: mucciolo m. J Clin Res Pediatr Endocrinol. 2021 Aug 23;13(3):347-352. doi: 10.4274/jcrpe.galenos.2020.2020.0064. Epub 2020 Aug 25. J Clin Res Pediatr Endocrinol. 2021. PMID: 32840097 Free PMC article.
34 results