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Year Number of Results
1996 1
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2002 2
2005 1
2007 1
2009 3
2010 1
2011 5
2012 1
2013 1
2014 1
2015 6
2016 1
2017 5
2018 9
2019 17
2020 6
2021 9
2022 6
2023 9
2024 6

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80 results

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Page 1
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.
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.
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.
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.
Feasibility and usability of remote monitoring in Alzheimer's disease.
Muurling M, de Boer C, Hinds C, Atreya A, Doherty A, Alepopoulos V, Curcic J, Brem AK, Conde P, Kuruppu S, Morató X, Saletti V, Galluzzi S, Vilarino Luis E, Cardoso S, Stukelj T, Kramberger MG, Roik D, Koychev I, Hopøy AC, Schwertner E, Gkioka M, Aarsland D, Visser PJ; RADAR-AD consortium. Muurling M, et al. Among authors: saletti v. Digit Health. 2024 Apr 9;10:20552076241238133. doi: 10.1177/20552076241238133. eCollection 2024 Jan-Dec. Digit Health. 2024. PMID: 38601188 Free PMC article.
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.
Virtual hospital and artificial intelligence: a first step towards the application of an innovative health system for the care of rare cerebrovascular diseases.
Rifino N, Bersano A, Padovani A, Conti GM, Cavallini A, Colombo L, Priori A, Pianese R, Gammone MR, Erbetta A, Ciceri EF, Sattin D, Varvello R, Parati EA, Scelzo E; for NOVHO-rCVD project. Rifino N, et al. Neurol Sci. 2024 May;45(5):2087-2095. doi: 10.1007/s10072-023-07206-9. Epub 2023 Nov 29. Neurol Sci. 2024. PMID: 38017154
The molecular landscape of glioma in patients with Neurofibromatosis 1.
D'Angelo F, Ceccarelli M, Tala, Garofano L, Zhang J, Frattini V, Caruso FP, Lewis G, Alfaro KD, Bauchet L, Berzero G, Cachia D, Cangiano M, Capelle L, de Groot J, DiMeco F, Ducray F, Farah W, Finocchiaro G, Goutagny S, Kamiya-Matsuoka C, Lavarino C, Loiseau H, Lorgis V, Marras CE, McCutcheon I, Nam DH, Ronchi S, Saletti V, Seizeur R, Slopis J, Suñol M, Vandenbos F, Varlet P, Vidaud D, Watts C, Tabar V, Reuss DE, Kim SK, Meyronet D, Mokhtari K, Salvador H, Bhat KP, Eoli M, Sanson M, Lasorella A, Iavarone A. D'Angelo F, et al. Among authors: saletti v. Nat Med. 2019 Jan;25(1):176-187. doi: 10.1038/s41591-018-0263-8. Epub 2018 Dec 10. Nat Med. 2019. PMID: 30531922 Free PMC article.
Diagnosis and treatment of Chiari malformation and syringomyelia in adults: international consensus document.
Ciaramitaro P, Massimi L, Bertuccio A, Solari A, Farinotti M, Peretta P, Saletti V, Chiapparini L, Barbanera A, Garbossa D, Bolognese P, Brodbelt A, Celada C, Cocito D, Curone M, Devigili G, Erbetta A, Ferraris M, Furlanetto M, Gilanton M, Jallo G, Karadjova M, Klekamp J, Massaro F, Morar S, Parker F, Perrini P, Poca MA, Sahuquillo J, Stoodley M, Talamonti G, Triulzi F, Valentini MC, Visocchi M, Valentini L; International Experts Jury of the Chiari Syringomyelia Consensus Conference, Milan, November 11-13, 2019. Ciaramitaro P, et al. Among authors: saletti v. Neurol Sci. 2022 Feb;43(2):1327-1342. doi: 10.1007/s10072-021-05347-3. Epub 2021 Jun 15. Neurol Sci. 2022. PMID: 34129128
80 results