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

Year Number of Results
2009 1
2010 1
2011 1
2012 1
2013 2
2016 3
2017 1
2018 1
2019 1
2020 3
2021 4
2022 1
2023 5
2024 1

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22 results

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Page 1
RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome.
Sambri I, Ferniani M, Campostrini G, Testa M, Meraviglia V, de Araujo MEG, Dokládal L, Vilardo C, Monfregola J, Zampelli N, Vecchio Blanco FD, Torella A, Ruosi C, Fecarotta S, Parenti G, Staiano L, Bellin M, Huber LA, De Virgilio C, Trepiccione F, Nigro V, Ballabio A. Sambri I, et al. Among authors: vecchio blanco fd. Nat Commun. 2023 May 15;14(1):2775. doi: 10.1038/s41467-023-38428-2. Nat Commun. 2023. PMID: 37188688 Free PMC article.
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: del vecchio blanco f. Genes (Basel). 2019 Jul 31;10(8):580. doi: 10.3390/genes10080580. Genes (Basel). 2019. PMID: 31370276 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: del vecchio blanco f. Genes (Basel). 2023 Mar 21;14(3):764. doi: 10.3390/genes14030764. Genes (Basel). 2023. PMID: 36981034 Free PMC article.
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement.
Onore ME, Torella A, Musacchia F, D'Ambrosio P, Zanobio M, Del Vecchio Blanco F, Piluso G, Nigro V. Onore ME, et al. Among authors: del vecchio blanco f. Genes (Basel). 2021 Jan 21;12(2):133. doi: 10.3390/genes12020133. Genes (Basel). 2021. PMID: 33494189 Free PMC article.
An atypical Aymé-Gripp phenotype detected by exome sequencing.
Caiazza M, Budillon A, Monda E, Aruta G, Esposito A, Del Vecchio Blanco F, Piluso G, Nigro V, Scarano G, Limongelli G. Caiazza M, et al. Among authors: del vecchio blanco f. Am J Med Genet A. 2024 Jan;194(1):70-76. doi: 10.1002/ajmg.a.63406. Epub 2023 Sep 15. Am J Med Genet A. 2024. PMID: 37712597
Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells.
Marchese E, Caterino M, Viggiano D, Cevenini A, Tolone S, Docimo L, Di Iorio V, Del Vecchio Blanco F, Fedele R, Simonelli F, Perna A, Nigro V, Capasso G, Ruoppolo M, Zacchia M. Marchese E, et al. Among authors: del vecchio blanco f. iScience. 2022 Sep 27;25(11):105230. doi: 10.1016/j.isci.2022.105230. eCollection 2022 Nov 18. iScience. 2022. PMID: 36281451 Free PMC article.
Urine concentrating defect as presenting sign of progressive renal failure in Bardet-Biedl syndrome patients.
Zacchia M, Blanco FDV, Torella A, Raucci R, Blasio G, Onore ME, Marchese E, Trepiccione F, Vitagliano C, Iorio VD, Alessandra P, Simonelli F, Nigro V, Capasso G, Viggiano D. Zacchia M, et al. Among authors: blanco fdv. Clin Kidney J. 2020 Dec 6;14(6):1545-1551. doi: 10.1093/ckj/sfaa182. eCollection 2021 Jun. Clin Kidney J. 2020. PMID: 34084454 Free PMC article.
22 results