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Year Number of Results
1986 1
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1999 2
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2002 2
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2005 1
2006 1
2007 5
2008 4
2009 3
2010 1
2011 3
2012 1
2013 2
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2016 2
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2019 4
2020 5
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66 results

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Page 1
Hypophosphatemic rickets in an Italian multicentric cohort of 24 subjects: a clinical and molecular characterisation.
Chimenz R, Columbu C, Pugliese F, Arena A, Bonifazi Meffe L, Carbone V, Concolino D, di Filippo L, Eller-Vainicher C, Fischetto R, Giannotta AF, Giustina A, Gori G, Lampis A, Monti L, Naciu AM, Palermo A, Palumbo O, Pracella R, Rutigliano I, Sacco M, Salcuni AS, Sestito S, Tabacco G, Vinci G, Castori M, Scillitani A, Guarnieri V. Chimenz R, et al. Among authors: fischetto r. Endocrine. 2025 Apr;88(1):285-294. doi: 10.1007/s12020-024-04097-4. Epub 2025 Feb 6. Endocrine. 2025. PMID: 39915350
Neurovascular retinal impairment in early-treated adults with phenylketonuria.
Buonamassa R, Boscia G, Gaudiomonte M, Guerriero S, Fischetto R, Montepara A, Grassi MO, Pignataro MG, Puzo P, Giancipoli E, D'addario M, Alessio G, Boscia F, Viggiano P. Buonamassa R, et al. Among authors: fischetto r. Front Neurol. 2024 Jun 21;15:1305984. doi: 10.3389/fneur.2024.1305984. eCollection 2024. Front Neurol. 2024. PMID: 38974690 Free PMC article.
Recurrent, founder and hypomorphic variants contribute to the genetic landscape of Joubert syndrome.
Serpieri V, Mortarini G, Loucks H, Biagini T, Micalizzi A, Palmieri I, Dempsey JC, D'Abrusco F, Mazzotta C, Battini R, Bertini ES, Boltshauser E, Borgatti R, Brockmann K, D'Arrigo S, Nardocci N, Fischetto R, Agolini E, Novelli A, Romano A, Romaniello R, Stanzial F, Signorini S, Strisciuglio P, Gana S, Mazza T, Doherty D, Valente EM. Serpieri V, et al. Among authors: fischetto r. J Med Genet. 2023 Sep;60(9):885-893. doi: 10.1136/jmg-2022-108725. Epub 2023 Feb 14. J Med Genet. 2023. PMID: 36788019 Free PMC article.
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Cinque L, Pugliese F, Salcuni AS, Trombetta D, Battista C, Biagini T, Augello B, Nardella G, Conti F, Corbetta S, Fischetto R, Foiadelli T, Gaudio A, Giannini C, Grosso E, Guabello G, Massuras S, Palermo A, Politano L, Pigliaru F, Ruggeri RM, Scarano E, Vicchio P, Cannavò S, Celli M, Petrizzelli F, Mastroianno M, Castori M, Scillitani A, Guarnieri V. Cinque L, et al. Among authors: fischetto r. Front Endocrinol (Lausanne). 2023 Aug 1;14:1205977. doi: 10.3389/fendo.2023.1205977. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37600704 Free PMC article.
Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA.
Galati A, Muciaccia R, Marucci A, Di Paola R, Menzaghi C, Ortolani F, Rutigliano A, Rotondo A, Fischetto R, Piccinno E, Delvecchio M. Galati A, et al. Among authors: fischetto r. Int J Environ Res Public Health. 2022 Sep 3;19(17):11031. doi: 10.3390/ijerph191711031. Int J Environ Res Public Health. 2022. PMID: 36078750 Free PMC article.
Expanding CEP290 mutational spectrum in ciliopathies.
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group; Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Pa… See abstract for full author list ➔ Travaglini L, et al. Among authors: fischetto r. Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025. Am J Med Genet A. 2009. PMID: 19764032 Free PMC article.
Body Composition in Adolescent PKU Patients: Beyond Fat Mass.
Tummolo A, Carella R, Paterno G, Bartolomeo N, Giotta M, Dicintio A, De Giovanni D, Fischetto R. Tummolo A, et al. Among authors: fischetto r. Children (Basel). 2022 Sep 4;9(9):1353. doi: 10.3390/children9091353. Children (Basel). 2022. PMID: 36138662 Free PMC article.
Alagille Syndrome: A Novel Mutation in JAG1 Gene.
Fischetto R, Palmieri VV, Tripaldi ME, Gaeta A, Michelucci A, Delvecchio M, Francavilla R, Giordano P. Fischetto R, et al. Front Pediatr. 2019 May 15;7:199. doi: 10.3389/fped.2019.00199. eCollection 2019. Front Pediatr. 2019. PMID: 31157196 Free PMC article.
66 results