BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

273 related articles for article (PubMed ID: 21332469)

  • 1. X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
    Demosthenous P; Voskarides K; Stylianou K; Hadjigavriel M; Arsali M; Patsias C; Georgaki E; Zirogiannis P; Stavrou C; Daphnis E; Pierides A; Deltas C;
    Clin Genet; 2012 Mar; 81(3):240-8. PubMed ID: 21332469
    [TBL] [Abstract][Full Text] [Related]  

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

  • 3. X-linked, COL4A5 hypomorphic Alport mutations such as G624D and P628L may only exhibit thin basement membrane nephropathy with microhematuria and late onset kidney failure.
    Pierides A; Voskarides K; Kkolou M; Hadjigavriel M; Deltas C
    Hippokratia; 2013 Jul; 17(3):207-13. PubMed ID: 24470729
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
    Hertz JM; Juncker I; Persson U; Matthijs G; Schmidtke J; Petersen MB; Kjeldsen M; Gregersen N
    Hum Mutat; 2001 Aug; 18(2):141-8. PubMed ID: 11462238
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Autosomal dominant Alport's syndrome: study of a large Tunisian family.
    Kharrat M; Makni S; Makni K; Kammoun K; Charfeddine K; Azaeiz H; Jarraya F; Ben Hmida M; Gubler MC; Ayadi H; Hachicha J
    Saudi J Kidney Dis Transpl; 2006 Sep; 17(3):320-5. PubMed ID: 16970251
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Detection of mutations in COL4A5 in patients with Alport syndrome.
    Plant KE; Green PM; Vetrie D; Flinter FA
    Hum Mutat; 1999; 13(2):124-32. PubMed ID: 10094548
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Correlation between mRNA expression level of the mutant COL4A5 gene and phenotypes of XLAS females.
    Wang Y; Zhang H; Ding J; Wang F
    Exp Biol Med (Maywood); 2007 May; 232(5):638-42. PubMed ID: 17463160
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. COL4A5-associated X-linked Alport syndrome in a female patient with early inner ear deafness due to a mutation in MYH9.
    Strasser K; Hoefele J; Bergmann C; Büscher AK; Büscher R; Hoyer PF; Weber S
    Nephrol Dial Transplant; 2012 Nov; 27(11):4236-40. PubMed ID: 23144074
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Familial hematuria: A review.
    Plevová P; Gut J; Janda J
    Medicina (Kaunas); 2017; 53(1):1-10. PubMed ID: 28236514
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome.
    Tug E; Percin FE; Pala E; Baysoy G
    Genet Couns; 2011; 22(2):143-53. PubMed ID: 21848006
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel Cys1638Tyr NC1 domain substitution in alpha5(IV) collagen causes Alport syndrome with late onset renal failure without hearing loss or eye abnormalities.
    Wilson JC; Yoon HS; Walker RJ; Eccles MR
    Nephrol Dial Transplant; 2007 May; 22(5):1338-46. PubMed ID: 17277342
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Gene symbol: COL4A5. Disease: Alport syndrome.
    Neri TM; Sebastio P
    Hum Genet; 2005 Dec; 118(3-4):543. PubMed ID: 16521290
    [No Abstract]   [Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.