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Year Number of Results
2005 2
2007 1
2008 3
2009 3
2010 1
2011 2
2012 2
2014 2
2016 2
2017 1
2018 1
2020 1
2021 1
2022 4
2023 1
2024 1

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Page 1
Fifteen Years of Iodine Prophylaxis in Italy: Results of a Nationwide Surveillance (Period 2015-2019).
De Angelis S, Medda E, Rotondi D, Masocco M, Minardi V, Contoli B, Possenti V, Sorbo A, D'Amato M, Turco AC, Pastorelli AA, Stacchini P, Cas RD, Bagnasco M, Bonofiglio D, Gasperi M, Meringolo D, Mian C, Moleti M, Vermiglio F, Puxeddu E, Taccaliti A, Tonacchera M, Ulisse S, Dimida A, Rago T, Nazzari E, Schiavo M, Bossert I, Sturniolo G, Corbetta C, Cereda C, Cappelletti L, Camilot M, Teofoli F, Ciatti R, Tarsi E, Perrotti N, Marasco O, Scozzafava G, Righetti F, Andò S, Catalano S, Cristofaro M, Sorrenti G, Censi S, Morelli S, Baldini E, Plutino G, Copparoni R, Alonzo E, Giacomozzi C, Silano M, Olivieri A. De Angelis S, et al. Among authors: teofoli f. J Clin Endocrinol Metab. 2024 Jan 18;109(2):e495-e507. doi: 10.1210/clinem/dgad593. J Clin Endocrinol Metab. 2024. PMID: 37820735 Free PMC article.
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
Macchione F, Salviati L, Bordugo A, Vincenzi M, Camilot M, Teofoli F, Pancheri E, Zordan R, Bertolin C, Rossi S, Vattemi G, Tonin P. Macchione F, et al. Among authors: teofoli f. J Neurol. 2020 May;267(5):1414-1419. doi: 10.1007/s00415-020-09729-z. Epub 2020 Jan 29. J Neurol. 2020. PMID: 31997039
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Ruoppolo M, Malvagia S, Boenzi S, Carducci C, Dionisi-Vici C, Teofoli F, Burlina A, Angeloni A, Aronica T, Bordugo A, Bucci I, Camilot M, Carbone MT, Cardinali R, Carducci C, Cassanello M, Castana C, Cazzorla C, Ciatti R, Ferrari S, Frisso G, Funghini S, Furlan F, Gasperini S, Gragnaniello V, Guzzetti C, La Marca G, La Spina L, Lorè T, Meli C, Messina M, Morrone A, Nardecchia F, Ortolano R, Parenti G, Pavanello E, Pieragostino D, Pillai S, Porta F, Righetti F, Rossi C, Rovelli V, Salina A, Santoro L, Sauro P, Schiaffino MC, Simonetti S, Vincenzi M, Tarsi E, Uccheddu AP. Ruoppolo M, et al. Among authors: teofoli f. Int J Neonatal Screen. 2022 Aug 9;8(3):47. doi: 10.3390/ijns8030047. Int J Neonatal Screen. 2022. PMID: 35997437 Free PMC article.
A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?
Franceschi R, Maines E, Bellizzi M, Rivieri F, Bacca A, Filippi A, Valente EM, Plumari M, Soffiati M, Vincenzi M, Teofoli F, Camilot M. Franceschi R, et al. Among authors: teofoli f. Arch Endocrinol Metab. 2023 Jan 18;67(1):143-149. doi: 10.20945/2359-3997000000546. Epub 2022 Dec 1. Arch Endocrinol Metab. 2023. PMID: 36468928 Free PMC article.
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
Maguolo A, Rodella G, Dianin A, Monge I, Messina M, Rigotti E, Pellegrini F, Molinaro G, Lupi F, Pasini A, Campostrini N, Ion Popa F, Teofoli F, Vincenzi M, Camilot M, Piacentini G, Bordugo A. Maguolo A, et al. Among authors: teofoli f. Front Pediatr. 2021 May 31;9:661416. doi: 10.3389/fped.2021.661416. eCollection 2021. Front Pediatr. 2021. PMID: 34136440 Free PMC article.
Possible andrologic markers in elevated neonatal 17-hydroxyprogesterone.
Cavarzere P, Vincenzi M, Gaudino R, Franceschi R, Perlini S, Camilot M, Teofoli F, Antoniazzi F, Tatò L. Cavarzere P, et al. Among authors: teofoli f. Fertil Steril. 2010 Nov;94(6):2350-2. doi: 10.1016/j.fertnstert.2010.04.040. Epub 2010 May 26. Fertil Steril. 2010. PMID: 20537623 Free article.
A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.
Maguolo A, Rodella G, Giorgetti A, Nicolodi M, Ribeiro R, Dianin A, Cantalupo G, Monge I, Carcereri S, De Bernardi ML, Delledonne M, Pasini A, Campostrini N, Ion Popa F, Piacentini G, Teofoli F, Vincenzi M, Camilot M, Bordugo A. Maguolo A, et al. Among authors: teofoli f. Genes (Basel). 2022 Jan 26;13(2):233. doi: 10.3390/genes13020233. Genes (Basel). 2022. PMID: 35205278 Free PMC article.
Enhanced interpretation of newborn screening results without analyte cutoff values.
Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, R… See abstract for full author list ➔ Marquardt G, et al. Among authors: teofoli f. Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16. Genet Med. 2012. PMID: 22766634 Free article.
23 results