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4. A COL4A3 gene mutation and post-transplant anti-alpha 3(IV) collagen alloantibodies in Alport syndrome. Kalluri R; van den Heuvel LP; Smeets HJ; Schroder CH; Lemmink HH; Boutaud A; Neilson EG; Hudson BG Kidney Int; 1995 Apr; 47(4):1199-204. PubMed ID: 7783419 [TBL] [Abstract][Full Text] [Related]
5. Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Kashtan CE Medicine (Baltimore); 1999 Sep; 78(5):338-60. PubMed ID: 10499074 [TBL] [Abstract][Full Text] [Related]
6. Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Barker DF; Hostikka SL; Zhou J; Chow LT; Oliphant AR; Gerken SC; Gregory MC; Skolnick MH; Atkin CL; Tryggvason K Science; 1990 Jun; 248(4960):1224-7. PubMed ID: 2349482 [TBL] [Abstract][Full Text] [Related]
7. [Alport syndrome or progressive hereditary nephritis with hearing loss]. Gubler MC; Heidet L; Antignac C Nephrol Ther; 2007 Jun; 3(3):113-20. PubMed ID: 17540313 [TBL] [Abstract][Full Text] [Related]
8. Molecular aspects of Alport's syndrome. Weber M; Netzer KO; Pullig O Clin Investig; 1992 Sep; 70(9):809-15. PubMed ID: 1450636 [TBL] [Abstract][Full Text] [Related]
9. Alport syndrome: from bedside to genome to bedside. Kashtan CE; Michael AF Am J Kidney Dis; 1993 Nov; 22(5):627-40. PubMed ID: 8238007 [TBL] [Abstract][Full Text] [Related]
10. Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4). Jefferson JA; Lemmink HH; Hughes AE; Hill CM; Smeets HJ; Doherty CC; Maxwell AP Nephrol Dial Transplant; 1997 Aug; 12(8):1595-9. PubMed ID: 9269635 [TBL] [Abstract][Full Text] [Related]
11. Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression. Antignac C; Knebelmann B; Drouot L; Gros F; Deschênes G; Hors-Cayla MC; Zhou J; Tryggvason K; Grünfeld JP; Broyer M J Clin Invest; 1994 Mar; 93(3):1195-207. PubMed ID: 8132760 [TBL] [Abstract][Full Text] [Related]
12. Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome. Knebelmann B; Breillat C; Forestier L; Arrondel C; Jacassier D; Giatras I; Drouot L; Deschênes G; Grünfeld JP; Broyer M; Gubler MC; Antignac C Am J Hum Genet; 1996 Dec; 59(6):1221-32. PubMed ID: 8940267 [TBL] [Abstract][Full Text] [Related]
13. Alport syndrome. A review of the ocular manifestations. Colville DJ; Savige J Ophthalmic Genet; 1997 Dec; 18(4):161-73. PubMed ID: 9457747 [TBL] [Abstract][Full Text] [Related]
14. COL4A5 gene deletion and production of post-transplant anti-alpha 3(IV) collagen alloantibodies in Alport syndrome. Kalluri R; Weber M; Netzer KO; Sun MJ; Neilson EG; Hudson BG Kidney Int; 1994 Mar; 45(3):721-6. PubMed ID: 8196274 [TBL] [Abstract][Full Text] [Related]
15. The pathogenesis of Alport syndrome involves type IV collagen molecules containing the alpha 3(IV) chain: evidence from anti-GBM nephritis after renal transplantation. Hudson BG; Kalluri R; Gunwar S; Weber M; Ballester F; Hudson JK; Noelken ME; Sarras M; Richardson WR; Saus J Kidney Int; 1992 Jul; 42(1):179-87. PubMed ID: 1635348 [TBL] [Abstract][Full Text] [Related]
16. The clinical spectrum of type IV collagen mutations. Lemmink HH; Schröder CH; Monnens LA; Smeets HJ Hum Mutat; 1997; 9(6):477-99. PubMed ID: 9195222 [TBL] [Abstract][Full Text] [Related]
17. Molecular cloning of alpha 5(IV) collagen and assignment of the gene to the region of the X chromosome containing the Alport syndrome locus. Myers JC; Jones TA; Pohjolainen ER; Kadri AS; Goddard AD; Sheer D; Solomon E; Pihlajaniemi T Am J Hum Genet; 1990 Jun; 46(6):1024-33. PubMed ID: 2339699 [TBL] [Abstract][Full Text] [Related]
18. A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia. Arrondel C; Deschênes G; Le Meur Y; Viau A; Cordonnier C; Fournier A; Amadeo S; Gubler MC; Antignac C; Heidet L Kidney Int; 2004 Jun; 65(6):2030-40. PubMed ID: 15149316 [TBL] [Abstract][Full Text] [Related]
19. COL4A5 splice site mutation and alpha 5(IV) collagen mRNA in Alport syndrome. Netzer KO; Pullig O; Frei U; Zhou J; Tryggvason K; Weber M Kidney Int; 1993 Feb; 43(2):486-92. PubMed ID: 8441246 [TBL] [Abstract][Full Text] [Related]
20. Clinical and molecular diagnosis of Alport syndrome. Kashtan CE Proc Assoc Am Physicians; 1995 Oct; 107(3):306-13. PubMed ID: 8608415 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]