114 related articles for article (PubMed ID: 12478350)
1. Phenotypic and genotypic features of Alport syndrome in Chinese children.
Wang F; Ding J; Guo S; Yang J
Pediatr Nephrol; 2002 Dec; 17(12):1013-20. PubMed ID: 12478350
[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. Clinical and genetic mapping of X chromosome in the X-linked dominant inherited Alport's syndrome.
Dai Y; Huang Y; He X; Wang S; Huang R; Tang M; Hu C
Saudi J Kidney Dis Transpl; 2008 Sep; 19(5):767-74. PubMed ID: 18711293
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.
Guo C; Van Damme B; Vanrenterghem Y; Devriendt K; Cassiman JJ; Marynen P
J Clin Invest; 1995 Apr; 95(4):1832-7. PubMed ID: 7706490
[TBL] [Abstract][Full Text] [Related]
7. Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.
Inoue Y; Nishio H; Shirakawa T; Nakanishi K; Nakamura H; Sumino K; Nishiyama K; Iijima K; Yoshikawa N
Am J Kidney Dis; 1999 Nov; 34(5):854-62. PubMed ID: 10561141
[TBL] [Abstract][Full Text] [Related]
8. MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.
Hertz JM; Juncker I; Marcussen N
Clin Genet; 2008 Dec; 74(6):522-30. PubMed ID: 18616531
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.
Sá MJ; Fieremans N; de Brouwer AP; Sousa R; e Costa FT; Brito MJ; Carvalho F; Rodrigues M; de Sousa FT; Felgueiras J; Neves F; Carvalho A; Ramos U; Vizcaíno JR; Alves S; Carvalho F; Froyen G; Oliveira JP
J Med Genet; 2013 Nov; 50(11):745-53. PubMed ID: 23958657
[TBL] [Abstract][Full Text] [Related]
12. [Significance of family studies and kidney biopsies in children with renal hematuria].
Pistor K; Bachmann H; Rumpelt HJ; Olbing H
Monatsschr Kinderheilkd; 1985 May; 133(5):269-73. PubMed ID: 4010678
[TBL] [Abstract][Full Text] [Related]
13. Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome.
Pan X; Yan J; Ren H; Zhang W; Shi H; Yu H; Wang C; Hao C; Chen X; Chen N
Nephrol Dial Transplant; 2004 May; 19(5):1123-8. PubMed ID: 14993485
[TBL] [Abstract][Full Text] [Related]
14. De-novo COL4A5 gene mutations in Alport's syndrome.
Massella L; Rizzoni G; De Blasis R; Barsotti P; Faraggiana T; Renieri A; Seri M; Galli L; De Marchi M
Nephrol Dial Transplant; 1994; 9(10):1408-11. PubMed ID: 7816253
[TBL] [Abstract][Full Text] [Related]
15. [Detection of a novel mutation in COL4A5 gene from a Chinese family with X-linked alport syndrome].
Peng CL; Liang H; Z ou QL; Wang J; Liu CS; Zhang XF; Chen J; Hu SN
Yi Chuan Xue Bao; 2004 Nov; 31(11):1190-5. PubMed ID: 15651669
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
Martin P; Heiskari N; Pajari H; Grönhagen-Riska C; Kääriäinen H; Koskimies O; Tryggvason K
Hum Mutat; 2000 Jun; 15(6):579. PubMed ID: 10862091
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [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]
20. Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.
Renieri A; Galli L; Grillo A; Bruttini M; Neri T; Zanelli P; Rizzoni G; Massella L; Sessa A; Meroni M; Peratoner L; Riegler P; Scolari F; Mileti M; Giani M; Cossu M; Savi M; Ballabio A; De Marchi M
Am J Med Genet; 1995 Nov; 59(3):380-5. PubMed ID: 8599366
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]