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Journal Abstract Search

325 related items for PubMed ID: 30661074

  • 1. Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations.
    Choi M, Anistan YM, Eckardt KU, Gollasch M, Nickel P.
    Nephron; 2019; 141(3):213-218. PubMed ID: 30661074
    [Abstract] [Full Text] [Related]

  • 2. Digenic Alport Syndrome.
    Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT.
    Clin J Am Soc Nephrol; 2022 Nov; 17(11):1697-1706. PubMed ID: 35675912
    [Abstract] [Full Text] [Related]

  • 3. Prevalence Estimates of Predicted Pathogenic COL4A3-COL4A5 Variants in a Population Sequencing Database and Their Implications for Alport Syndrome.
    Gibson J, Fieldhouse R, Chan MMY, Sadeghi-Alavijeh O, Burnett L, Izzi V, Persikov AV, Gale DP, Storey H, Savige J, Genomics England Research Consortium.
    J Am Soc Nephrol; 2021 Sep; 32(9):2273-2290. PubMed ID: 34400539
    [Abstract] [Full Text] [Related]

  • 4. Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome.
    Zhang Y, Ding J, Zhang H, Yao Y, Xiao H, Wang S, Wang F.
    Mol Genet Genomic Med; 2019 May; 7(5):e647. PubMed ID: 30883042
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.
    Wang D, Pan M, Li H, Li M, Li P, Xiong F, Xiao H.
    BMC Med Genomics; 2024 Jul 08; 17(1):181. PubMed ID: 38978054
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. The COL4A3 and COL4A4 Digenic Mutations in cis Result in Benign Familial Hematuria in a Large Chinese Family.
    Li A, Cui YX, Lv X, Liu JH, Gao EZ, Wei XX, Xia XY, Gao CL, Liu FX, Xia ZK, Asan, Liu ZH, Li XJ.
    Cytogenet Genome Res; 2018 Oct 31; 154(3):132-136. PubMed ID: 29742505
    [Abstract] [Full Text] [Related]

  • 9. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
    Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frascá G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M.
    Kidney Int; 2002 Jun 31; 61(6):1947-56. PubMed ID: 12028435
    [Abstract] [Full Text] [Related]

  • 10. Novel mutations of COL4A3, COL4A4, and COL4A5 genes in Chinese patients with Alport Syndrome using next generation sequence technique.
    Zhao X, Chen C, Wei Y, Zhao G, Liu L, Wang C, Zhang J, Kong X.
    Mol Genet Genomic Med; 2019 Jun 31; 7(6):e653. PubMed ID: 30968591
    [Abstract] [Full Text] [Related]

  • 11. 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; 31(6):941-55. PubMed ID: 26809805
    [Abstract] [Full Text] [Related]

  • 12. 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.
    Clin J Am Soc Nephrol; 2022 Jan 31; 17(1):143-154. PubMed ID: 34930753
    [Abstract] [Full Text] [Related]

  • 13. 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 31; 23(10):940-947. PubMed ID: 28704582
    [Abstract] [Full Text] [Related]

  • 14.
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  • 15. 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.
    PLoS One; 2016 Oct 31; 11(9):e0161802. PubMed ID: 27627812
    [Abstract] [Full Text] [Related]

  • 16. Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.
    Slajpah M, Gorinsek B, Berginc G, Vizjak A, Ferluga D, Hvala A, Meglic A, Jaksa I, Furlan P, Gregoric A, Kaplan-Pavlovcic S, Ravnik-Glavac M, Glavac D.
    Kidney Int; 2007 Jun 31; 71(12):1287-95. PubMed ID: 17396119
    [Abstract] [Full Text] [Related]

  • 17. 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 Jun 31; 27(5):538-44. PubMed ID: 17726307
    [Abstract] [Full Text] [Related]

  • 18. Persistent familial hematuria in children and the locus for thin basement membrane nephropathy.
    Rana K, Wang YY, Powell H, Jones C, McCredie D, Buzza M, Udawela M, Savige J.
    Pediatr Nephrol; 2005 Dec 31; 20(12):1729-37. PubMed ID: 16235097
    [Abstract] [Full Text] [Related]

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  • 20. COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?
    Voskarides K, Papagregoriou G, Hadjipanagi D, Petrou I, Savva I, Elia A, Athanasiou Y, Pastelli A, Kkolou M, Hadjigavriel M, Stavrou C, Pierides A, Deltas C.
    BMC Nephrol; 2018 May 16; 19(1):114. PubMed ID: 29764427
    [Abstract] [Full Text] [Related]

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