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42 results

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Page 1
Generation of human induced pluripotent stem cell lines derived from three Noonan syndrome patients from a single family carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation.
Sbrini G, Tomasoni Z, Cutrì MR, Pilotta A, Mingotti C, Badolato R, La Via L, Barbon A, Bono F, Fiorentini C. Sbrini G, et al. Among authors: pilotta a. Stem Cell Res. 2024 Feb;74:103293. doi: 10.1016/j.scr.2023.103293. Epub 2023 Dec 28. Stem Cell Res. 2024. PMID: 38160629 Free article.
Monoallelic de novo AJAP1 loss-of-function variants disrupt trans-synaptic control of neurotransmitter release.
Früh S, Boudkkazi S, Koppensteiner P, Sereikaite V, Chen LY, Fernandez-Fernandez D, Rem PD, Ulrich D, Schwenk J, Chen Z, Le Monnier E, Fritzius T, Innocenti SM, Besseyrias V, Trovò L, Stawarski M, Argilli E, Sherr EH, van Bon B, Kamsteeg EJ, Iascone M, Pilotta A, Cutrì MR, Azamian MS, Hernández-García A, Lalani SR, Rosenfeld JA, Zhao X, Vogel TP, Ona H, Scott DA, Scheiffele P, Strømgaard K, Tafti M, Gassmann M, Fakler B, Shigemoto R, Bettler B. Früh S, et al. Among authors: pilotta a. Sci Adv. 2024 Jul 12;10(28):eadk5462. doi: 10.1126/sciadv.adk5462. Epub 2024 Jul 10. Sci Adv. 2024. PMID: 38985877 Free PMC article.
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants.
Ferilli M, Ciolfi A, Pedace L, Niceta M, Radio FC, Pizzi S, Miele E, Cappelletti C, Mancini C, Galluccio T, Andreani M, Iascone M, Chiriatti L, Novelli A, Micalizzi A, Matraxia M, Menale L, Faletra F, Prontera P, Pilotta A, Bedeschi MF, Capolino R, Baban A, Seri M, Mammì C, Zampino G, Digilio MC, Dallapiccola B, Priolo M, Tartaglia M. Ferilli M, et al. Among authors: pilotta a. Genes (Basel). 2022 Nov 19;13(11):2163. doi: 10.3390/genes13112163. Genes (Basel). 2022. PMID: 36421837 Free PMC article.
Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Manara E, Paolacci S, D'Esposito F, Abeshi A, Ziccardi L, Falsini B, Colombo L, Iarossi G, Pilotta A, Boccone L, Guerri G, Monica M, Marta B, Maltese PE, Buzzonetti L, Rossetti L, Bertelli M. Manara E, et al. Among authors: pilotta a. Ital J Pediatr. 2019 Jun 13;45(1):72. doi: 10.1186/s13052-019-0659-1. Ital J Pediatr. 2019. PMID: 31196119 Free PMC article.
Clinical and Laboratory Features of 184 Italian Pediatric Patients Affected with Selective IgA Deficiency (SIgAD): a Longitudinal Single-Center Study.
Lougaris V, Sorlini A, Monfredini C, Ingrasciotta G, Caravaggio A, Lorenzini T, Baronio M, Cattalini M, Meini A, Ruggeri L, Salpietro A, Pilotta A, Grazzani L, Prandi E, Felappi B, Gualdi G, Fabiano A, Fuoti M, Ravelli A, Villanacci V, Soresina A, Badolato R, Plebani A. Lougaris V, et al. Among authors: pilotta a. J Clin Immunol. 2019 Jul;39(5):470-475. doi: 10.1007/s10875-019-00647-y. Epub 2019 May 25. J Clin Immunol. 2019. PMID: 31129864
Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients.
Iughetti L, Vivi G, Balsamo A, Corrias A, Crinò A, Delvecchio M, Gargantini L, Greggio NA, Grugni G, Hladnik U, Pilotta A, Ragusa L, Salvatoni A, Wasniewska M, Weber G, Predieri B. Iughetti L, et al. Among authors: pilotta a. J Pediatr Endocrinol Metab. 2019 Feb 25;32(2):159-165. doi: 10.1515/jpem-2018-0388. J Pediatr Endocrinol Metab. 2019. PMID: 30703060
42 results