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Journal Abstract Search

288 related items for PubMed ID: 29669314

  • 1. Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes.
    Li A, Gao EZ, Cui YX, Liu JH, Lv X, Wei XX, Xia XY, Gao CL, Liu FX, Xia ZK, Asan, Liu ZH, Li XJ.
    Cytogenet Genome Res; 2018; 154(1):30-36. PubMed ID: 29669314
    [Abstract] [Full Text] [Related]

  • 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; 23(10):940-947. PubMed ID: 28704582
    [Abstract] [Full Text] [Related]

  • 3. COL4A3/COL4A4 mutations link familial hematuria and focal segmental glomerulosclerosis. glomerular epithelium destruction via basement membrane thinning?
    Voskarides K, Pierides A, Deltas C.
    Connect Tissue Res; 2008 Oct; 49(3):283-8. PubMed ID: 18661361
    [Abstract] [Full Text] [Related]

  • 4. Frequent COL4 mutations in familial microhematuria accompanied by later-onset Alport nephropathy due to focal segmental glomerulosclerosis.
    Papazachariou L, Papagregoriou G, Hadjipanagi D, Demosthenous P, Voskarides K, Koutsofti C, Stylianou K, Ioannou P, Xydakis D, Tzanakis I, Papadaki A, Kallivretakis N, Nikolakakis N, Perysinaki G, Gale DP, Diamantopoulos A, Goudas P, Goumenos D, Soloukides A, Boletis I, Melexopoulou C, Georgaki E, Frysira E, Komianou F, Grekas D, Paliouras C, Alivanis P, Vergoulas G, Pierides A, Daphnis E, Deltas C.
    Clin Genet; 2017 Nov; 92(5):517-527. PubMed ID: 28632965
    [Abstract] [Full Text] [Related]

  • 5. Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.
    Papazachariou L, Demosthenous P, Pieri M, Papagregoriou G, Savva I, Stavrou C, Zavros M, Athanasiou Y, Ioannou K, Patsias C, Panagides A, Potamitis C, Demetriou K, Prikis M, Hadjigavriel M, Kkolou M, Loukaidou P, Pastelli A, Michael A, Lazarou A, Arsali M, Damianou L, Goutziamani I, Soloukides A, Yioukas L, Elia A, Zouvani I, Polycarpou P, Pierides A, Voskarides K, Deltas C.
    PLoS One; 2014 Nov; 9(12):e115015. PubMed ID: 25514610
    [Abstract] [Full Text] [Related]

  • 6. Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.
    Pierides A, Voskarides K, Athanasiou Y, Ioannou K, Damianou L, Arsali M, Zavros M, Pierides M, Vargemezis V, Patsias C, Zouvani I, Elia A, Kyriacou K, Deltas C.
    Nephrol Dial Transplant; 2009 Sep; 24(9):2721-9. PubMed ID: 19357112
    [Abstract] [Full Text] [Related]

  • 7. 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; 88(5):456-61. PubMed ID: 25307543
    [Abstract] [Full Text] [Related]

  • 8. Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.
    Weber S, Strasser K, Rath S, Kittke A, Beicht S, Alberer M, Lange-Sperandio B, Hoyer PF, Benz MR, Ponsel S, Weber LT, Klein HG, Hoefele J.
    Pediatr Nephrol; 2016 Jun; 31(6):941-55. PubMed ID: 26809805
    [Abstract] [Full Text] [Related]

  • 9. Genetic mutational testing of Chinese children with familial hematuria with biopsy‑proven FSGS.
    Li Y, Wang Y, He Q, Dang X, Cao Y, Wu X, Mo S, He X, Yi Z.
    Mol Med Rep; 2018 Jan; 17(1):1513-1526. PubMed ID: 29138824
    [Abstract] [Full Text] [Related]

  • 10. Carriers of Autosomal Recessive Alport Syndrome with Thin Basement Membrane Nephropathy Presenting as Focal Segmental Glomerulosclerosis in Later Life.
    Deltas C, Savva I, Voskarides K, Papazachariou L, Pierides A.
    Nephron; 2015 Jan; 130(4):271-80. PubMed ID: 26201269
    [Abstract] [Full Text] [Related]

  • 11. Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis.
    Malone AF, Phelan PJ, Hall G, Cetincelik U, Homstad A, Alonso AS, Jiang R, Lindsey TB, Wu G, Sparks MA, Smith SR, Webb NJ, Kalra PA, Adeyemo AA, Shaw AS, Conlon PJ, Jennette JC, Howell DN, Winn MP, Gbadegesin RA.
    Kidney Int; 2014 Dec; 86(6):1253-9. PubMed ID: 25229338
    [Abstract] [Full Text] [Related]

  • 12. Mutation Analysis of Thin Basement Membrane Nephropathy.
    Hirabayashi Y, Katayama K, Mori M, Matsuo H, Fujimoto M, Joh K, Murata T, Ito M, Dohi K.
    Genes (Basel); 2022 Oct 02; 13(10):. PubMed ID: 36292665
    [Abstract] [Full Text] [Related]

  • 13. A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease.
    Fan LL, Liu L, Luo FM, Du R, Wang CY, Dong Y, Liu JS.
    Mol Genet Genomic Med; 2020 Dec 02; 8(12):e1545. PubMed ID: 33159707
    [Abstract] [Full Text] [Related]

  • 14. COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.
    Voskarides K, Damianou L, Neocleous V, Zouvani I, Christodoulidou S, Hadjiconstantinou V, Ioannou K, Athanasiou Y, Patsias C, Alexopoulos E, Pierides A, Kyriacou K, Deltas C.
    J Am Soc Nephrol; 2007 Nov 02; 18(11):3004-16. PubMed ID: 17942953
    [Abstract] [Full Text] [Related]

  • 15. Thin basement membrane nephropathy.
    Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY.
    Kidney Int; 2003 Oct 02; 64(4):1169-78. PubMed ID: 12969134
    [Abstract] [Full Text] [Related]

  • 16. Kidney Injury by Variants in the COL4A5 Gene Aggravated by Polymorphisms in Slit Diaphragm Genes Causes Focal Segmental Glomerulosclerosis.
    Frese J, Kettwig M, Zappel H, Hofer J, Gröne HJ, Nagel M, Sunder-Plassmann G, Kain R, Neuweiler J, Gross O.
    Int J Mol Sci; 2019 Jan 26; 20(3):. PubMed ID: 30691124
    [Abstract] [Full Text] [Related]

  • 17. Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.
    Rana K, Tonna S, Wang YY, Sin L, Lin T, Shaw E, Mookerjee I, Savige J.
    Pediatr Nephrol; 2007 May 26; 22(5):652-7. PubMed ID: 17216251
    [Abstract] [Full Text] [Related]

  • 18. [Collagen type IV nephropathy: from thin basement membrane nephropathy to Alport syndrome].
    Endreffy E, Ondrik Z, Kemény E, Vas Z, Maróti Z, Lencse G, Bereczki C, Haszon I, Túri S, Iványi B.
    Orv Hetil; 2005 Dec 25; 146(52):2647-53. PubMed ID: 16468607
    [Abstract] [Full Text] [Related]

  • 19. A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy.
    Hou P, Chen Y, Ding J, Li G, Zhang H.
    Am J Nephrol; 2007 Dec 25; 27(5):538-44. PubMed ID: 17726307
    [Abstract] [Full Text] [Related]

  • 20. How to resolve confusion in the clinical setting for the diagnosis of heterozygous COL4A3 or COL4A4 gene variants? Discussion and suggestions from nephrologists.
    Imafuku A, Nozu K, Sawa N, Nakanishi K, Ubara Y.
    Clin Exp Nephrol; 2020 Aug 25; 24(8):651-656. PubMed ID: 32232700
    [Abstract] [Full Text] [Related]

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