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

Year Number of Results
1986 2
1987 1
1988 2
1989 1
1990 2
1991 1
1992 6
1993 6
1994 2
1995 4
1996 2
1997 4
1998 1
1999 6
2000 5
2001 6
2002 2
2003 4
2004 2
2005 2
2006 3
2007 2
2009 1
2010 2
2011 5
2012 4
2013 9
2014 10
2015 7
2016 8
2017 7
2018 7
2019 6
2020 6
2021 3
2022 2
2023 1
2024 1

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127 results

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Page 1
Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F. Savige J, et al. Among authors: flinter f. Clin J Am Soc Nephrol. 2022 Jan;17(1):143-154. doi: 10.2215/CJN.04230321. Epub 2021 Dec 20. Clin J Am Soc Nephrol. 2022. PMID: 34930753 Free PMC article.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. Among authors: flinter f. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.
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: flinter f. 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.
Use and misuse of preimplantation genetic testing.
Braude P, Flinter F. Braude P, et al. Among authors: flinter f. BMJ. 2007 Oct 13;335(7623):752-4. doi: 10.1136/bmj.39314.439491.AD. Epub 2007 Sep 6. BMJ. 2007. PMID: 17823145 Free PMC article. Review.
Alport's syndrome.
Flinter F. Flinter F. J Med Genet. 1997 Apr;34(4):326-30. doi: 10.1136/jmg.34.4.326. J Med Genet. 1997. PMID: 9138159 Free PMC article. Review.
Preimplantation genetic diagnosis.
Flinter FA. Flinter FA. BMJ. 2001 Apr 28;322(7293):1008-9. doi: 10.1136/bmj.322.7293.1008. BMJ. 2001. PMID: 11325751 Free PMC article. No abstract available.
Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Deltas C, Papagregoriou G, Louka SF, Malatras A, Flinter F, Gale DP, Gear S, Gross O, Hoefele J, Lennon R, Miner JH, Renieri A, Savige J, Turner AN. Deltas C, et al. Among authors: flinter f. Genes (Basel). 2023 Aug 25;14(9):1686. doi: 10.3390/genes14091686. Genes (Basel). 2023. PMID: 37761826 Free PMC article. Review.
Preimplantation genetic diagnosis.
Braude P, Pickering S, Flinter F, Ogilvie CM. Braude P, et al. Among authors: flinter f. Nat Rev Genet. 2002 Dec;3(12):941-53. doi: 10.1038/nrg953. Nat Rev Genet. 2002. PMID: 12459724 Review.
The 2019 and 2021 International Workshops on Alport Syndrome.
Daga S, Ding J, Deltas C, Savige J, Lipska-Ziętkiewicz BS, Hoefele J, Flinter F, Gale DP, Aksenova M, Kai H, Perin L, Barua M, Torra R, Miner JH, Massella L, Ljubanović DG, Lennon R, Weinstock AB, Knebelmann B, Cerkauskaite A, Gear S, Gross O, Turner AN, Baldassarri M, Pinto AM, Renieri A. Daga S, et al. Among authors: flinter f. Eur J Hum Genet. 2022 May;30(5):507-516. doi: 10.1038/s41431-022-01075-0. Epub 2022 Mar 9. Eur J Hum Genet. 2022. PMID: 35260866 Free PMC article.
127 results