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26. 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]
27. 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]
28. Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome. Neri TM; Zanelli P; De Palma G; Savi M; Rossetti S; Turco AE; Pignatti GF; Galli L; Bruttini M; Renieri A; Mingarelli R; Trivelli A; Pinciaroli AR; Ragaiolo M; Rizzoni GF; De Marchi M Hum Mutat; 1998; Suppl 1():S106-9. PubMed ID: 9452056 [No Abstract] [Full Text] [Related]
29. A TaqI RFLP in Xq26----qter detected by pX301b [DXS311]. Sood R; White BN; Holden JJ Nucleic Acids Res; 1989 Jun; 17(11):4422. PubMed ID: 2567986 [No Abstract] [Full Text] [Related]
30. 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]
31. Major rearrangements in the alpha 5(IV) collagen gene in three patients with Alport syndrome. Boye E; Vetrie D; Flinter F; Buckle B; Pihlajaniemi T; Hamalainen ER; Myers JC; Bobrow M; Harris A Genomics; 1991 Dec; 11(4):1125-32. PubMed ID: 1783380 [TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. A single-base mutation in exon 31 converting glycine 852 to arginine in the collagenous domain in an Alport syndrome patient. Kawai S; Nomura S; Harano T; Harano K; Fukushima T; Wago M; Shimizu B; Osawa G Nephron; 1996; 74(2):333-6. PubMed ID: 8893151 [TBL] [Abstract][Full Text] [Related]
35. A new point mutation in the COL4A5 gene described in a Spanish family with X-linked Alport syndrome. Palenzuela L; Callís L; Vilalta R; Vila A; Nieto JL; Meseguer A Nephron; 2002 Apr; 90(4):455-9. PubMed ID: 11961405 [TBL] [Abstract][Full Text] [Related]
36. Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours. Heidet L; Dahan K; Zhou J; Xu Z; Cochat P; Gould JD; Leppig KA; Proesmans W; Guyot C; Guillot M Hum Mol Genet; 1995 Jan; 4(1):99-108. PubMed ID: 7711741 [TBL] [Abstract][Full Text] [Related]
37. 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]
38. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. Zhou J; Mochizuki T; Smeets H; Antignac C; Laurila P; de Paepe A; Tryggvason K; Reeders ST Science; 1993 Aug; 261(5125):1167-9. PubMed ID: 8356449 [TBL] [Abstract][Full Text] [Related]
39. [Prenatal diagnosis and genetic counseling of X-linked Alport syndrome in China]. Zhang HW; Ding J; Wang F; Yang HX Zhonghua Er Ke Za Zhi; 2007 Jul; 45(7):484-9. PubMed ID: 17953801 [TBL] [Abstract][Full Text] [Related]