BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

746 related articles for article (PubMed ID: 12028435)

  • 1. 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]  

  • 2. 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]  

  • 3. Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.
    Tazón Vega B; Badenas C; Ars E; Lens X; Milà M; Darnell A; Torra R
    Am J Kidney Dis; 2003 Nov; 42(5):952-9. PubMed ID: 14582039
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
    Longo I; Scala E; Mari F; Caselli R; Pescucci C; Mencarelli MA; Speciale C; Giani M; Bresin E; Caringella DA; Borochowitz ZU; Siriwardena K; Winship I; Renieri A; Meloni I
    Nephrol Dial Transplant; 2006 Mar; 21(3):665-71. PubMed ID: 16338941
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome.
    Buzza M; Wang YY; Dagher H; Babon JJ; Cotton RG; Powell H; Dowling J; Savige J
    Kidney Int; 2001 Aug; 60(2):480-3. PubMed ID: 11473630
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.
    Webb BD; Brandt T; Liu L; Jalas C; Liao J; Fedick A; Linderman MD; Diaz GA; Kornreich R; Trachtman H; Mehta L; Edelmann L
    Clin Genet; 2014 Aug; 86(2):155-60. PubMed ID: 23927549
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 22(5):652-7. PubMed ID: 17216251
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study.
    Uliana V; Sebastio P; Riva M; Carli D; Ruberto C; Bianchi L; Graziano C; Capelli I; Faletra F; Pillon R; Mattina T; Sensi A; Bonatti F; Percesepe A
    Mol Genet Genomic Med; 2021 Feb; 9(2):e1576. PubMed ID: 33369211
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.
    Marcocci E; Uliana V; Bruttini M; Artuso R; Silengo MC; Zerial M; Bergesio F; Amoroso A; Savoldi S; Pennesi M; Giachino D; Rombolà G; Fogazzi GB; Rosatelli C; Martinhago CD; Carmellini M; Mancini R; Di Costanzo G; Longo I; Renieri A; Mari F
    Nephrol Dial Transplant; 2009 May; 24(5):1464-71. PubMed ID: 19129241
    [TBL] [Abstract][Full Text] [Related]  

  • 18. COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.
    Ramzan K; Imtiaz F; Taibah K; Alnufiee S; Akhtar M; Al-Hazzaa SA; Al-Owain M
    Int J Pediatr Otorhinolaryngol; 2014 Mar; 78(3):427-32. PubMed ID: 24398087
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 38.