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Page 1
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.
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.
Evidence of digenic inheritance in Alport syndrome.
Mencarelli MA, Heidet L, Storey H, van Geel M, Knebelmann B, Fallerini C, Miglietti N, Antonucci MF, Cetta F, Sayer JA, van den Wijngaard A, Yau S, Mari F, Bruttini M, Ariani F, Dahan K, Smeets B, Antignac C, Flinter F, Renieri A. Mencarelli MA, et al. Among authors: flinter f. J Med Genet. 2015 Mar;52(3):163-74. doi: 10.1136/jmedgenet-2014-102822. Epub 2015 Jan 9. J Med Genet. 2015. PMID: 25575550
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.
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.
X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
Jais JP, Knebelmann B, Giatras I, Marchi M, Rizzoni G, Renieri A, Weber M, Gross O, Netzer KO, Flinter F, Pirson Y, Verellen C, Wieslander J, Persson U, Tryggvason K, Martin P, Hertz JM, Schröder C, Sanak M, Krejcova S, Carvalho MF, Saus J, Antignac C, Smeets H, Gubler MC. Jais JP, et al. Among authors: flinter f. J Am Soc Nephrol. 2000 Apr;11(4):649-657. doi: 10.1681/ASN.V114649. J Am Soc Nephrol. 2000. PMID: 10752524
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.
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
Nabais Sá MJ, Storey H, Flinter F, Nagel M, Sampaio S, Castro R, Araújo JA, Gaspar MA, Soares C, Oliveira A, Henriques AC, da Costa AG, Abreu CP, Ponce P, Alves R, Pinho L, Silva SE, de Moura CP, Mendonça L, Carvalho F, Pestana M, Alves S, Carvalho F, Oliveira JP. Nabais Sá MJ, et al. Among authors: flinter f. Clin Genet. 2015 Nov;88(5):456-61. doi: 10.1111/cge.12521. Epub 2014 Nov 10. Clin Genet. 2015. PMID: 25307543
162 results