194 related articles for article (PubMed ID: 10561141)
1. 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]
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. 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. 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]
6. 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]
7. [Approaches to detect the gene mutations in autosomal recessive Alport's syndrome: analysis of a family].
Hou P; Lü JC; Chen YQ; Ding JX; Li GT; Zhang H
Zhonghua Yi Xue Za Zhi; 2008 Feb; 88(8):573-5. PubMed ID: 18649777
[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. 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]
10. Immunohistochemical study for the diagnosis of Alport's syndrome.
Wongtrakul P; Shayakul C; Parichatikanond P; Suthipinittharm P; Amjaroen C; Kaewkaukul N; Vongirad A; Ongajyooth L
J Med Assoc Thai; 2006 Nov; 89 Suppl 5():S171-81. PubMed ID: 17718259
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. [Alport's syndrome: new findings].
García-Torres R; Orozco L
Bol Med Hosp Infant Mex; 1993 Aug; 50(8):596-602. PubMed ID: 8357522
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome.
King K; Flinter FA; Nihalani V; Green PM
Hum Genet; 2002 Dec; 111(6):548-54. PubMed ID: 12436246
[TBL] [Abstract][Full Text] [Related]
15. Ultrastructural and immunohistochemical findings in Alport's syndrome: a study of 108 patients from 97 Italian families with particular emphasis on COL4A5 gene mutation correlations.
Mazzucco G; Barsotti P; Muda AO; Fortunato M; Mihatsch M; Torri-Tarelli L; Renieri A; Faraggiana T; De Marchi M; Monga G
J Am Soc Nephrol; 1998 Jun; 9(6):1023-31. PubMed ID: 9621285
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. The gene corresponding to the putative Goodpasture antigen is present in Alport's syndrome.
Savige JA
Clin Exp Immunol; 1991 Aug; 85(2):236-9. PubMed ID: 1864003
[TBL] [Abstract][Full Text] [Related]
18. Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.
Wang F; Wang Y; Ding J; Yang J
Kidney Int; 2005 Apr; 67(4):1268-74. PubMed ID: 15780079
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [The first experience in Russia of using DNA diagnosis in Alport's syndrome in a family with a unique morphological picture of the kidney lesion].
Tsalikova FD; Ignatova MS; Krasnopol'skaia KD; Tverskaia SM; Brydun AV
Ter Arkh; 1995; 67(4):45-7. PubMed ID: 7784975
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
