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Journal Abstract Search

476 related items for PubMed ID: 27281700

  • 1. Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
    Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K.
    Clin J Am Soc Nephrol; 2016 Aug 08; 11(8):1441-1449. PubMed ID: 27281700
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  • 2. Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically.
    Imafuku A, Nozu K, Sawa N, Hasegawa E, Hiramatsu R, Kawada M, Hoshino J, Tanaka K, Ishii Y, Takaichi K, Fujii T, Ohashi K, Iijima K, Ubara Y.
    Nephrology (Carlton); 2018 Oct 08; 23(10):940-947. PubMed ID: 28704582
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  • 3. Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.
    Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A.
    Kidney Int; 2004 May 08; 65(5):1598-603. PubMed ID: 15086897
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  • 4. COL4A3 mutation is an independent risk factor for poor prognosis in children with Alport syndrome.
    Ozdemir G, Gulhan B, Atayar E, Saygılı S, Soylemezoglu O, Ozcakar ZB, Eroglu FK, Candan C, Demir BK, Soylu A, Yüksel S, Alpay H, Agbas A, Duzova A, Hayran M, Ozaltin F, Topaloglu R.
    Pediatr Nephrol; 2020 Oct 08; 35(10):1941-1952. PubMed ID: 32394188
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  • 5. Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?
    Mastrangelo A, Madeira C, Castorina P, Giani M, Montini G.
    Nephrol Dial Transplant; 2022 Nov 23; 37(12):2398-2407. PubMed ID: 35090027
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  • 8. Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
    Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R.
    Am J Kidney Dis; 2021 Oct 23; 78(4):560-570.e1. PubMed ID: 33838161
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  • 10. COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome.
    Storey H, Savige J, Sivakumar V, Abbs S, Flinter FA.
    J Am Soc Nephrol; 2013 Dec 23; 24(12):1945-54. PubMed ID: 24052634
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  • 11. Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
    Longo I, Scala E, Mari F, Caselli R, Pescucci C, Mencarelli MA, Speciale C, Giani M, Bresin E, Caringella DA, Borochowitz ZU, Siriwardena K, Winship I, Renieri A, Meloni I.
    Nephrol Dial Transplant; 2006 Mar 23; 21(3):665-71. PubMed ID: 16338941
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  • 12. Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.
    Cervera-Acedo C, Coloma A, Huarte-Loza E, Sierra-Carpio M, Domínguez-Garrido E.
    BMC Nephrol; 2017 Oct 31; 18(1):325. PubMed ID: 29089023
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  • 16. 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.
    Clin Genet; 2015 Nov 31; 88(5):456-61. PubMed ID: 25307543
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  • 19. Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia.
    Ciccarese M, Casu D, Ki Wong F, Faedda R, Arvidsson S, Tonolo G, Luthman H, Satta A.
    Nephrol Dial Transplant; 2001 Oct 31; 16(10):2008-12. PubMed ID: 11572889
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