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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.
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.
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
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
Baban A, Olivini N, Lepri FR, Calì F, Mucciolo M, Digilio MC, Calcagni G, di Mambro C, Dallapiccola B, Adorisio R, Novelli A, Drago F. Baban A, et al. Among authors: mucciolo m. Am J Med Genet A. 2019 Oct;179(10):2083-2090. doi: 10.1002/ajmg.a.61312. Epub 2019 Aug 1. Am J Med Genet A. 2019. PMID: 31368652 Review.
Providing more evidence on LZTR1 variants in Noonan syndrome patients.
Chinton J, Huckstadt V, Mucciolo M, Lepri F, Novelli A, Gravina LP, Obregon MG. Chinton J, et al. Among authors: mucciolo m. Am J Med Genet A. 2020 Feb;182(2):409-414. doi: 10.1002/ajmg.a.61445. Epub 2019 Dec 11. Am J Med Genet A. 2020. PMID: 31825158
34 results