BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

299 related articles for article (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
    [TBL] [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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 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. 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]  

  • 6. 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]  

  • 7. 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; 154(3):132-136. PubMed ID: 29742505
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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; 7(6):e653. PubMed ID: 30968591
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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; 71(12):1287-95. PubMed ID: 17396119
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 27(5):538-44. PubMed ID: 17726307
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 20(12):1729-37. PubMed ID: 16235097
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.
    Liu JH; Wei XX; Li A; Cui YX; Xia XY; Qin WS; Zhang MC; Gao EZ; Sun J; Gao CL; Liu FX; Wu QY; Li WW; Asan ; Liu ZH; Li XJ
    PLoS One; 2017; 12(5):e0177685. PubMed ID: 28542346
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 19(1):114. PubMed ID: 29764427
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 65(5):1598-603. PubMed ID: 15086897
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.