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Year Number of Results
2002 3
2003 1
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
2020 6
2021 3
2022 8
2023 4
2024 0

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54 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
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.
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.
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.
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.
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.
Age and sex prevalence estimate of Joubert syndrome in Italy.
Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group. Nuovo S, et al. Neurology. 2020 Feb 25;94(8):e797-e801. doi: 10.1212/WNL.0000000000008996. Epub 2020 Jan 22. Neurology. 2020. PMID: 31969461 Free PMC article.
Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman.
Di Giosaffatte N, Bottillo I, Laino L, Iaquinta G, Ferraris A, Garzia M, Bargiacchi S, Mulargia C, Angelitti MR, Palumbo F, Grammatico B, Bartolelli C, Salerno MG, Rigacci L, Grammatico P. Di Giosaffatte N, et al. Among authors: ferraris a. Prenat Diagn. 2022 Jul;42(8):1000-1003. doi: 10.1002/pd.6158. Epub 2022 May 7. Prenat Diagn. 2022. PMID: 35506546 Free PMC article.
54 results