BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

321 related articles for article (PubMed ID: 34400539)

  • 1. Prevalence Estimates of Predicted Pathogenic
    Gibson J; Fieldhouse R; Chan MMY; Sadeghi-Alavijeh O; Burnett L; Izzi V; Persikov AV; Gale DP; Storey H; Savige J;
    J Am Soc Nephrol; 2021 Sep; 32(9):2273-2290. PubMed ID: 34400539
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.
    Gibson JT; Huang M; Shenelli Croos Dabrera M; Shukla K; Rothe H; Hilbert P; Deltas C; Storey H; Lipska-Ziętkiewicz BS; Chan MMY; Sadeghi-Alavijeh O; Gale DP; ; Cerkauskaite A; Savige J
    Sci Rep; 2022 Feb; 12(1):2722. PubMed ID: 35177655
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 11(9):e0161802. PubMed ID: 27627812
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 17(1):143-154. PubMed ID: 34930753
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review.
    Savige J; Harraka P
    Am J Kidney Dis; 2021 Dec; 78(6):857-864. PubMed ID: 34245817
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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
    [TBL] [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(6):941-55. PubMed ID: 26809805
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 61(6):1947-56. PubMed ID: 12028435
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 78(4):560-570.e1. PubMed ID: 33838161
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
    Savige J; Storey H; Watson E; Hertz JM; Deltas C; Renieri A; 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; Lipska-Ziętkiewicz BS
    Eur J Hum Genet; 2021 Aug; 29(8):1186-1197. PubMed ID: 33854215
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 18(1):325. PubMed ID: 29089023
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Collagen type IV nephropathy: genetic heterogeneity examinations in affected Hungarian families.
    Endreffy E; Ondrik Z; Iványi B; Maróti Z; Bereczki C; Haszon I; Györke Z; Worum E; Németh K; Rikker C; Ökrös Z; Túri S
    Mol Cell Probes; 2011 Feb; 25(1):28-34. PubMed ID: 20951199
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of 27 Novel Variants in Genes
    Cerkauskaite A; Savige J; Janonyte K; Jeremiciute I; Miglinas M; Kazenaite E; Laurinavicius A; Strupaite-Sileikiene R; Vainutiene V; Burnyte B; Jankauskiene A; Rolfs A; Bauer P; Schröder S; Cerkauskiene R
    Front Med (Lausanne); 2022; 9():859521. PubMed ID: 35419377
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.
    Yuan X; Su Q; Wang H; Shi S; Liu L; Lv J; Wang S; Zhu L; Zhang H
    J Am Soc Nephrol; 2023 Jan; 34(1):132-144. PubMed ID: 36130833
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome.
    Liang L; Wu H; Cai Z; Zhao J
    BMC Med Genomics; 2023 Aug; 16(1):192. PubMed ID: 37596645
    [TBL] [Abstract][Full Text] [Related]  

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

    [Next]    [New Search]
    of 17.