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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 2
2004 1
2005 1
2007 1
2008 3
2009 2
2010 3
2011 5
2012 4
2013 4
2014 3
2015 4
2016 3
2017 4
2018 6
2019 4
2020 4
2021 9
2022 6
2023 9
2024 2

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72 results

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Page 1
Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders.
Giugliano T, Santoro C, Torella A, Del Vecchio Blanco F, Grandone A, Onore ME, Melone MAB, Straccia G, Melis D, Piccolo V, Limongelli G, Buono S, Perrotta S, Nigro V, Piluso G. Giugliano T, et al. Among authors: piluso g. Genes (Basel). 2019 Jul 31;10(8):580. doi: 10.3390/genes10080580. Genes (Basel). 2019. PMID: 31370276 Free PMC article.
Are SHROOM4 loss-of-function variants pathogenic?
Peduto C, Piluso G, Nigro V, Brunetti-Pierri N. Peduto C, et al. Among authors: piluso g. Am J Med Genet A. 2022 Nov;188(11):3374-3375. doi: 10.1002/ajmg.a.62935. Epub 2022 Aug 16. Am J Med Genet A. 2022. PMID: 36209347 No abstract available.
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
Torella A, Ricca I, Piluso G, Galatolo D, De Michele G, Zanobio M, Trovato R, De Michele G, Zeuli R, Pane C, Cocozza S, Saccà F, Santorelli FM, Nigro V, Filla A. Torella A, et al. Among authors: piluso g. J Neurol. 2023 Oct;270(10):5057-5063. doi: 10.1007/s00415-023-11816-w. Epub 2023 Jul 7. J Neurol. 2023. PMID: 37418012 Free PMC article.
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies.
Zacchia M, Capolongo G, Del Vecchio Blanco F, Secondulfo F, Gupta N, Blasio G, Pollastro RM, Cervesato A, Piluso G, Gigliotti G, Torella A, Nigro V, Perna AF, Capasso G, Trepiccione F. Zacchia M, et al. Among authors: piluso g. Genes (Basel). 2023 Mar 21;14(3):764. doi: 10.3390/genes14030764. Genes (Basel). 2023. PMID: 36981034 Free PMC article.
Therapeutic homology-independent targeted integration in retina and liver.
Tornabene P, Ferla R, Llado-Santaeularia M, Centrulo M, Dell'Anno M, Esposito F, Marrocco E, Pone E, Minopoli R, Iodice C, Nusco E, Rossi S, Lyubenova H, Manfredi A, Di Filippo L, Iuliano A, Torella A, Piluso G, Musacchia F, Surace EM, Cacchiarelli D, Nigro V, Auricchio A. Tornabene P, et al. Among authors: piluso g. Nat Commun. 2022 Apr 12;13(1):1963. doi: 10.1038/s41467-022-29550-8. Nat Commun. 2022. PMID: 35414130 Free PMC article.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KB… See abstract for full author list ➔ Koczkowska M, et al. Among authors: piluso g. Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26. Hum Mutat. 2020. PMID: 31595648 Free PMC article.
72 results