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Year Number of Results
1997 1
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2001 1
2003 1
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2007 1
2008 1
2009 1
2010 1
2011 4
2012 2
2013 4
2014 6
2015 6
2016 3
2017 2
2018 1
2019 3
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45 results

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Page 1
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, Venanzi S, Bonaguro M, Kavamura I, Faienza MF, Pilotta A, Stanzial F, Faravelli F, Gabrielli O, Marino B, Neri G, Silengo MC, Ferrero GB, Torrrente I, Selicorni A, Mazzanti L, Digilio MC, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M. Lepri F, et al. Among authors: pilotta a. Hum Mutat. 2011 Jul;32(7):760-72. doi: 10.1002/humu.21492. Epub 2011 Apr 28. Hum Mutat. 2011. PMID: 21387466 Free PMC 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.
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases.
Lucca C, Rosina E, Pezzani L, Piazzolla D, Spaccini L, Scatigno A, Gasperini S, Pezzoli L, Cereda A, Milani D, Cattaneo E, Cavallari U, Frigeni M, Marchetti D, Daolio C, Giordano L, Bellini M, Goisis L, Mongodi C, Tonduti D, Pilotta A, Cazzaniga G, Furlan F, Bedeschi MF, Mangili G, Bonanomi E, Iascone M. Lucca C, et al. Among authors: pilotta a. Clin Genet. 2025 Oct;108(4):412-421. doi: 10.1111/cge.14760. Epub 2025 Apr 24. Clin Genet. 2025. PMID: 40274276 Free PMC article.
Initial observations on the frequency of diabetic ketoacidosis following pilot screening for type 1 diabetes in the general Italian population.
Cherubini V, Scaramuzza AE, Agrimi U, Bonfanti R, Bosi E, D'Avino A, Iafusco D, Marigliano M, Mozzillo E, Pricci F, Rabbone I, Ripoli C, Silano M, Ulivi F, Vincentini O, Gesuita R; Diabetes Study Group of the Italian Society for Pediatric Endocrinology and Diabetology. Cherubini V, et al. Diabetes Obes Metab. 2025 Oct;27(10):6039-6043. doi: 10.1111/dom.16611. Epub 2025 Jul 17. Diabetes Obes Metab. 2025. PMID: 40671622 Free PMC article. No abstract available.
Characteristics of a nationwide cohort of patients presenting with isolated hypogonadotropic hypogonadism (IHH).
Bonomi M, Vezzoli V, Krausz C, Guizzardi F, Vezzani S, Simoni M, Bassi I, Duminuco P, Di Iorgi N, Giavoli C, Pizzocaro A, Russo G, Moro M, Fatti L, Ferlin A, Mazzanti L, Zatelli MC, Cannavò S, Isidori AM, Pincelli AI, Prodam F, Mancini A, Limone P, Tanda ML, Gaudino R, Salerno M, Francesca P, Maghnie M, Maggi M, Persani L; Italian Network on Central Hypogonadism; Italian Network on Central Hypogonadism (NICe group). Bonomi M, et al. Eur J Endocrinol. 2018 Jan;178(1):23-32. doi: 10.1530/EJE-17-0065. Epub 2017 Sep 7. Eur J Endocrinol. 2018. PMID: 28882981 Free 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.
Growth hormone receptor polymorphisms.
Buzi F, Mella P, Pilotta A, Prandi E, Lanfranchi F, Carapella T. Buzi F, et al. Among authors: pilotta a. Endocr Dev. 2007;11:28-35. doi: 10.1159/000111055. Endocr Dev. 2007. PMID: 17986824 Review.
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.
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.
Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C, Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G. Micale L, et al. Among authors: pilotta a. Hum Mutat. 2014 Jul;35(7):841-50. doi: 10.1002/humu.22547. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24633898 Free PMC article.
45 results