221 related articles for article (PubMed ID: 10862091)
1. 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]
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. 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]
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. A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.
King K; Flinter FA; Green PM
Hum Mutat; 2006 Oct; 27(10):1061. PubMed ID: 16941480
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.
Boye E; Flinter F; Zhou J; Tryggvason K; Bobrow M; Harris A
Hum Mutat; 1995; 5(3):197-204. PubMed ID: 7599631
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.
Krol RP; Nozu K; Nakanishi K; Iijima K; Takeshima Y; Fu XJ; Nozu Y; Kaito H; Kanda K; Matsuo M; Yoshikawa N
Nephrol Dial Transplant; 2008 Aug; 23(8):2525-30. PubMed ID: 18332068
[TBL] [Abstract][Full Text] [Related]
10. A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
Peissel B; Rossetti S; Renieri A; Galli L; De Marchi M; Battini G; Meroni M; Sessa A; Schiavano S; Pignatti PF
Hum Mutat; 1994; 3(4):386-90. PubMed ID: 8081393
[No Abstract] [Full Text] [Related]
11. Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.
Nagel M; Nagorka S; Gross O
Hum Mutat; 2005 Jul; 26(1):60. PubMed ID: 15954103
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. [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]
14. 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]
15. 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]
16. 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]
17. Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.
Tazón-Vega B; Ars E; Burset M; Santín S; Ruíz P; Fernández-Llama P; Ballarín J; Torra R
Am J Kidney Dis; 2007 Aug; 50(2):257.e1-14. PubMed ID: 17660027
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
