These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

373 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. Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.
    Furlano M; Pilco-Teran M; Pybus M; Martínez V; Aza-Carmona M; Rius Peris A; Pérez-Gomez V; Berná G; Mazon J; Hernández J; Fayos de Arizón L; Viera E; Gich I; Pérez HV; Gomá-Garcés E; Albero Dolon JL; Ars E; Torra R
    Nephrol Dial Transplant; 2024 Aug; 39(9):1442-1448. PubMed ID: 38317457
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 17(1):181. PubMed ID: 38978054
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 19.