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Year Number of Results
2002 3
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2005 1
2006 2
2007 2
2008 4
2009 3
2010 1
2011 4
2012 2
2013 4
2014 2
2015 1
2016 1
2017 3
2018 1
2019 5
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2023 4
2025 1
2026 1

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56 results

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Page 1
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M. Leone MP, et al. Among authors: ferraris a. Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20. Hum Genet. 2023. PMID: 37079061
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Di Giosaffatte N, Daniele P, Petrizzelli F, Iacovino C, Canciani C, Garau ML, Santoro C, Trevisan V, Panfili A, Cavone S, Guida V, D'Asdia MC, Bernardini L, Majore S, Ferraris A, Valiante M, Gensini F, Radio FC, Tortora G, Cassina M, Miele G, Priolo M, Sirchia F, Piccinno L, Flex E, Zampino G, Genuardi M, Nigro V, Salviati L, Papi L, Grammatico P, Leoni C, Piluso G, Giustini S, Mazza T, Upadhyaya M, Tartaglia M, Trevisson E, De Luca A. Di Giosaffatte N, et al. Among authors: ferraris a. Breast. 2025 Dec;84:104618. doi: 10.1016/j.breast.2025.104618. Epub 2025 Oct 22. Breast. 2025. PMID: 41218342 Free PMC article.
The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET.
Talarico R, Aguilera S, Alexander T, Amoura Z, Antunes AM, Arnaud L, Avcin T, Beretta L, Bombardieri S, Burmester GR, Cannizzo S, Cavagna L, Chaigne B, Cornet A, Costedoat-Chalumeau N, Doria A, Ferraris A, Fischer-Betz R, Fonseca JE, Frank C, Gaglioti A, Galetti I, Grunert J, Guimarães V, Hachulla E, Houssiau F, Iaccarino L, Krieg T, Limper M, Malfait F, Mariette X, Marinello D, Martin T, Matthews L, Matucci-Cerinic M, Meyer A, Montecucco C, Mouthon L, Müller-Ladner U, Rednic S, Romão VC, Schneider M, Smith V, Sulli A, Tamirou F, Taruscio D, Taulaigo AV, Terol E, Tincani A, Ticciati S, Turchetti G, van Hagen PM, van Laar JM, Vieira A, de Vries-Bouwstra JK, Cutolo M, Mosca M. Talarico R, et al. Among authors: ferraris a. Nat Rev Rheumatol. 2021 Mar;17(3):177-184. doi: 10.1038/s41584-020-00565-z. Epub 2021 Jan 6. Nat Rev Rheumatol. 2021. PMID: 33408338 Free PMC article. Review.
Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability?
Bottillo I, Savino E, Majore S, Mulargia C, Valiante M, Ferraris A, Rossi V, Svegliati F, Ciccone MP, Brusco F, Grammatico B, Di Giacomo G, Bargiacchi S, D'Angelantonio D, Grammatico P. Bottillo I, et al. Among authors: ferraris a. Eur J Hum Genet. 2023 Apr;31(4):474-478. doi: 10.1038/s41431-022-01270-z. Epub 2022 Dec 19. Eur J Hum Genet. 2023. PMID: 36529819 Free PMC article.
Genetic testing for paediatric neurological disorders.
Valente EM, Ferraris A, Dallapiccola B. Valente EM, et al. Among authors: ferraris a. Lancet Neurol. 2008 Dec;7(12):1113-26. doi: 10.1016/S1474-4422(08)70257-6. Lancet Neurol. 2008. PMID: 19007736 Review.
An overlook on the current registries for rare and complex connective tissue diseases and the future scenario of TogethERN ReCONNET.
Bandeira M, Di Cianni F, Marinello D, Arnaud L, Cannizzo S, Carta C, Cornet A, Barril SM, Bulina I, Ferraris A, Fonseca J, Gaglioti A, Limper M, Lorenzoni V, Majnik J, Matucci-Cerinic M, Palla I, Rednic S, Schneider M, Smith V, Sulli A, Søndergaard K, Ticciati S, Tincani A, Turchetti G, Talarico R, Cutolo M, Mosca M, Taruscio D. Bandeira M, et al. Among authors: ferraris a. Front Med (Lausanne). 2022 Sep 26;9:889997. doi: 10.3389/fmed.2022.889997. eCollection 2022. Front Med (Lausanne). 2022. PMID: 36226147 Free PMC article. Review.
Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.
Elbaz A, Ross OA, Ioannidis JP, Soto-Ortolaza AI, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin MC, Destée A, Ferrarese C, Ferraris A, Gibson JM, Gispert S, Hadjigeorgiou GM, Jasinska-Myga B, Klein C, Krüger R, Lambert JC, Lohmann K, van de Loo S, Loriot MA, Lynch T, Mellick GD, Mutez E, Nilsson C, Opala G, Puschmann A, Quattrone A, Sharma M, Silburn PA, Stefanis L, Uitti RJ, Valente EM, Vilariño-Güell C, Wirdefeldt K, Wszolek ZK, Xiromerisiou G, Maraganore DM, Farrer MJ; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Elbaz A, et al. Among authors: ferraris a. Ann Neurol. 2011 May;69(5):778-92. doi: 10.1002/ana.22321. Epub 2011 Mar 9. Ann Neurol. 2011. PMID: 21391235 Free PMC article.
The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET.
Talarico R, Aguilera S, Alexander T, Amoura Z, Andersen J, Arnaud L, Avcin T, Marsal Barril S, Beretta L, Bombardieri S, Bortoluzzi A, Bouillot C, Bulina I, Burmester GR, Cannizzo S, Cavagna L, Chaigne B, Cornet A, Corti P, Costedoat-Chalumeau N, Dāvidsone Z, Doria A, Fenech C, Ferraris A, Fischer-Betz R, Fonseca JE, Frank C, Gaglioti A, Galetti I, Guimarães V, Hachulla E, Holmner M, Houssiau F, Iaccarino L, Jacobsen S, Limper M, Malfait F, Mariette X, Marinello D, Martin T, Matthews L, Matucci-Cerinic M, Meyer A, Milas-Ahić J, Moinzadeh P, Montecucco C, Mouthon L, Müller-Ladner U, Nagy G, Patarata E, Pileckyte M, Pruunsild C, Rednic S, Romão VC, Schneider M, Scirè CA, Smith V, Sulli A, Tamirou F, Tani C, Taruscio D, Taulaigo AV, Tincani A, Ticciati S, Turchetti G, van Hagen PM, van Laar JM, Viera A, de Vries-Bouwstra JK, Zschocke J, Cutolo M, Mosca M. Talarico R, et al. Among authors: ferraris a. Clin Exp Rheumatol. 2022 May;40 Suppl 134(5):3-11. doi: 10.55563/clinexprheumatol/d2qz38. Epub 2022 Mar 29. Clin Exp Rheumatol. 2022. PMID: 35349419 Free article. Review.
Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study.
Evangelou E, Maraganore DM, Annesi G, Brighina L, Brice A, Elbaz A, Ferrarese C, Hadjigeorgiou GM, Krueger R, Lambert JC, Lesage S, Markopoulou K, Mellick GD, Meeus B, Pedersen NL, Quattrone A, Van Broeckhoven C, Sharma M, Silburn PA, Tan EK, Wirdefeldt K, Ioannidis JP; Genetic Epidemiology of Parkinson's Disease (GEOPD) Consortium. Evangelou E, et al. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):220-8. doi: 10.1002/ajmg.b.30980. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19475631 Free PMC article.
56 results