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

Year Number of Results
1995 3
1996 1
1997 1
1998 4
1999 2
2000 4
2001 2
2002 1
2003 4
2004 2
2005 3
2006 2
2007 6
2008 2
2009 3
2010 1
2011 2
2012 1
2013 1
2014 1
2015 2
2016 2
2017 1
2018 4
2019 4
2020 6
2021 12
2022 7
2023 2
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73 results
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Page 1
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H. Savige J, et al. Among authors: bruttini m. Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9. Pediatr Nephrol. 2019. PMID: 29987460 Free article. Review.
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Bruno LP, Doddato G, Valentino F, Baldassarri M, Tita R, Fallerini C, Bruttini M, Lo Rizzo C, Mencarelli MA, Mari F, Pinto AM, Fava F, Fabbiani A, Lamacchia V, Carrer A, Caputo V, Granata S, Benetti E, Zguro K, Furini S, Renieri A, Ariani F. Bruno LP, et al. Among authors: bruttini m. Int J Mol Sci. 2021 Dec 14;22(24):13439. doi: 10.3390/ijms222413439. Int J Mol Sci. 2021. PMID: 34948243 Free PMC article. Clinical Trial.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C, Picchiotti N, Baldassarri M, Zguro K, Daga S, Fava F, Benetti E, Amitrano S, Bruttini M, Palmieri M, Croci S, Lista M, Beligni G, Valentino F, Meloni I, Tanfoni M, Minnai F, Colombo F, Cabri E, Fratelli M, Gabbi C, Mantovani S, Frullanti E, Gori M, Crawley FP, Butler-Laporte G, Richards B, Zeberg H, Lipcsey M, Hultström M, Ludwig KU, Schulte EC, Pairo-Castineira E, Baillie JK, Schmidt A, Frithiof R; WES/WGS Working Group Within the HGI; GenOMICC Consortium; GEN-COVID Multicenter Study; Mari F, Renieri A, Furini S. Fallerini C, et al. Among authors: bruttini m. Hum Genet. 2022 Jan;141(1):147-173. doi: 10.1007/s00439-021-02397-7. Epub 2021 Dec 10. Hum Genet. 2022. PMID: 34889978 Free PMC article.
Natural history of KBG syndrome in a large European cohort.
Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano EF, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A, Pinto AM. Loberti L, et al. Among authors: bruttini m. Hum Mol Genet. 2022 Dec 16;31(24):4131-4142. doi: 10.1093/hmg/ddac167. Hum Mol Genet. 2022. PMID: 35861666 Free PMC article.
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients.
Mantovani S, Daga S, Fallerini C, Baldassarri M, Benetti E, Picchiotti N, Fava F, Gallì A, Zibellini S, Bruttini M, Palmieri M, Croci S, Amitrano S, Alaverdian D, Capitani K, Furini S, Mari F, Meloni I; GEN-COVID Multicenter Study; Frullanti E, Mondelli MU, Renieri A. Mantovani S, et al. Among authors: bruttini m. Genes Immun. 2022 Feb;23(1):51-56. doi: 10.1038/s41435-021-00157-1. Epub 2021 Dec 24. Genes Immun. 2022. PMID: 34952932 Free PMC article.
Type-IV collagen related diseases.
Pescucci C, Longo I, Bruttini M, Mari F, Renieri A. Pescucci C, et al. Among authors: bruttini m. J Nephrol. 2003 Mar-Apr;16(2):314-6. J Nephrol. 2003. PMID: 12768082 Review.
Evidence of predisposing epimutation in retinoblastoma.
Gelli E, Pinto AM, Somma S, Imperatore V, Cannone MG, Hadjistilianou T, De Francesco S, Galimberti D, Currò A, Bruttini M, Mari F, Renieri A, Ariani F. Gelli E, et al. Among authors: bruttini m. Hum Mutat. 2019 Feb;40(2):201-206. doi: 10.1002/humu.23684. Epub 2018 Nov 26. Hum Mutat. 2019. PMID: 30427563
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.
Currò A, Doddato G, Bruttini M, Zollino M, Marangi G, Zappella M, Renieri A, Pinto AM. Currò A, et al. Among authors: bruttini m. Eur J Med Genet. 2021 Jan;64(1):104102. doi: 10.1016/j.ejmg.2020.104102. Epub 2020 Nov 18. Eur J Med Genet. 2021. PMID: 33220470
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.
Baldassarri M, Zguro K, Tomati V, Pastorino C, Fava F, Croci S, Bruttini M, Picchiotti N, Furini S, Pedemonte N, Gabbi C, Renieri A, Fallerini C; Gen-Covid Multicenter Study. Baldassarri M, et al. Among authors: bruttini m. Cells. 2022 Dec 16;11(24):4096. doi: 10.3390/cells11244096. Cells. 2022. PMID: 36552859 Free PMC article.
73 results