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X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M. Savige J, et al. Among authors: flinter f. PLoS One. 2016 Sep 14;11(9):e0161802. doi: 10.1371/journal.pone.0161802. eCollection 2016. PLoS One. 2016. PMID: 27627812 Free PMC article.
Clinical utility gene card for: Alport syndrome - update 2014.
Hertz JM, Thomassen M, Storey H, Flinter F. Hertz JM, et al. Among authors: flinter f. Eur J Hum Genet. 2015 Sep;23(9). doi: 10.1038/ejhg.2014.254. Epub 2014 Nov 12. Eur J Hum Genet. 2015. PMID: 25388007 Free PMC article. No abstract available.
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.
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.
Clinical utility gene card for: Alport syndrome.
Hertz JM, Thomassen M, Storey H, Flinter F. Hertz JM, et al. Among authors: flinter f. Eur J Hum Genet. 2012 Jun;20(6). doi: 10.1038/ejhg.2011.237. Epub 2011 Dec 14. Eur J Hum Genet. 2012. PMID: 22166944 Free PMC article. No abstract available.
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.
International Alport Mutation Consortium; Savige J, Ars E, Cotton RG, Crockett D, Dagher H, Deltas C, Ding J, Flinter F, Pont-Kingdon G, Smaoui N, Torra R, Storey H. International Alport Mutation Consortium, et al. Among authors: flinter f. Pediatr Nephrol. 2014 Jun;29(6):971-7. doi: 10.1007/s00467-013-2486-8. Epub 2013 May 30. Pediatr Nephrol. 2014. PMID: 23720012 Review.
160 results