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126 novel mutations in Italian patients with neurofibromatosis type 1.
Bianchessi D, Morosini S, Saletti V, Ibba MC, Natacci F, Esposito S, Cesaretti C, Riva D, Finocchiaro G, Eoli M. Bianchessi D, et al. Among authors: saletti v. Mol Genet Genomic Med. 2015 Jul 7;3(6):513-25. doi: 10.1002/mgg3.161. eCollection 2015 Nov. Mol Genet Genomic Med. 2015. PMID: 26740943 Free PMC article.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM. Koczkowska M, et al. Among authors: saletti v. Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28. Am J Hum Genet. 2018. PMID: 29290338 Free PMC article.
Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.
Melloni G, Eoli M, Cesaretti C, Bianchessi D, Ibba MC, Esposito S, Scuvera G, Morcaldi G, Micheli R, Piozzi E, Avignone S, Chiapparini L, Pantaleoni C, Natacci F, Finocchiaro G, Saletti V. Melloni G, et al. Among authors: saletti v. Cancers (Basel). 2019 Nov 21;11(12):1838. doi: 10.3390/cancers11121838. Cancers (Basel). 2019. PMID: 31766501 Free PMC article.
Neurological malignancies in neurofibromatosis type 1.
Eoli M, Saletti V, Finocchiaro G. Eoli M, et al. Among authors: saletti v. Curr Opin Oncol. 2019 Nov;31(6):554-561. doi: 10.1097/CCO.0000000000000576. Curr Opin Oncol. 2019. PMID: 31436563 Review.
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: saletti v. 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.
Neuroradiological diagnosis of Chiari malformations.
Chiapparini L, Saletti V, Solero CL, Bruzzone MG, Valentini LG. Chiapparini L, et al. Among authors: saletti v. Neurol Sci. 2011 Dec;32 Suppl 3:S283-6. doi: 10.1007/s10072-011-0695-0. Neurol Sci. 2011. PMID: 21800079 Review.
DNA methylation episignature in Gabriele-de Vries syndrome.
Cherik F, Reilly J, Kerkhof J, Levy M, McConkey H, Barat-Houari M, Butler KM, Coubes C, Lee JA, Le Guyader G, Louie RJ, Patterson WG, Tedder ML, Bak M, Hammer TB, Craigen W, Démurger F, Dubourg C, Fradin M, Franciskovich R, Frengen E, Friedman J, Palares NR, Iascone M, Misceo D, Monin P, Odent S, Philippe C, Rouxel F, Saletti V, Strømme P, Thulin PC, Sadikovic B, Genevieve D. Cherik F, et al. Among authors: saletti v. Genet Med. 2022 Apr;24(4):905-914. doi: 10.1016/j.gim.2021.12.003. Epub 2022 Jan 10. Genet Med. 2022. PMID: 35027293 Free article.
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ. Rice GI, et al. Among authors: saletti v. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020 Jan 14. Hum Mutat. 2020. PMID: 31898846 Free PMC article.
Pharmacokinetics and Safety of Selumetinib Granule Formulation in Children With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform Neurofibromas (SPRINKLE; phase I/II).
Hernáiz Driever P, Kordes UR, Brecht IB, Saletti V, Fisher MJ, Doughton G, Arefayene M, Rigazio A, Lluch N, Llorente N, Diede SJ, Salvador H. Hernáiz Driever P, et al. Among authors: saletti v. J Clin Oncol. 2026 Apr;44(10):849-860. doi: 10.1200/JCO-25-01447. Epub 2026 Jan 27. J Clin Oncol. 2026. PMID: 41592259 Free PMC article. Clinical Trial.
New insights into the molecular basis of spinal neurofibromatosis type 1.
Bettinaglio P, Mangano E, Tritto V, Bordoni R, Paterra R, Borghi A, Volontè M, Battaglia C, Saletti V, Cesaretti C, Natacci F, Melone MAB, Eoli M, Riva P. Bettinaglio P, et al. Among authors: saletti v. Eur J Hum Genet. 2023 Aug;31(8):931-938. doi: 10.1038/s41431-023-01377-x. Epub 2023 May 22. Eur J Hum Genet. 2023. PMID: 37217626 Free PMC article.
77 results