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Items: 1 to 20 of 144

1.

Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.

Ma J, Pan X, Wang Z, Wang Y, Feng X, Ren H, Zhang W, Chen X, Wang W, Chen N.

Nephrol Dial Transplant. 2011 Dec;26(12):4003-10. doi: 10.1093/ndt/gfr184. Epub 2011 Apr 19.

2.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
3.

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. Epub 2004 Feb 19. Erratum in: Nephrol Dial Transplant. 2004 Jul;19(7):1944.

4.

Skin biopsy is a practical approach for the clinical diagnosis and molecular genetic analysis of X-linked Alport's syndrome.

Wang F, Zhao D, Ding J, Zhang H, Zhang Y, Yu L, Xiao H, Yao Y, Zhong X, Wang S.

J Mol Diagn. 2012 Nov;14(6):586-93. doi: 10.1016/j.jmoldx.2012.06.005. Epub 2012 Aug 21.

PMID:
22921432
5.

A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities.

Zhao C, Wang F, Zhang Y, Wen Y, Su Y, Zhang C, Sui R, Xu F, Ding J, Dong F.

Mol Vis. 2012;18:2205-12. Epub 2012 Aug 8.

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.

PMID:
10561141
7.

Mutation c.359_363delGTATTinsATAC in the COL4A5 causes Alport syndrome in a Chinese family.

Wang Q, Liu F, Xing Y, Wei X, Li H, Zhang S, Liu J, Wang Q, Tang Z, Liu M.

Gene. 2013 Jan 10;512(2):482-5. doi: 10.1016/j.gene.2012.10.014. Epub 2012 Oct 18.

PMID:
23085274
8.

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.

9.

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.

PMID:
11462238
10.

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.

11.
12.

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.

PMID:
17463160
13.

Siblings with Alport's syndrome showing unique staining patterns for alpha5(IV) and alpha6(IV) chains of collagen type IV.

Tsuji T, Fujigaki Y, Sakakima M, Sado Y, Hishida A.

Clin Exp Nephrol. 2010 Jun;14(3):283-7. doi: 10.1007/s10157-010-0265-4. Epub 2010 Mar 9.

PMID:
20213338
14.

Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy.

Mothes H, Heidet L, Arrondel C, Richter KK, Thiele M, Patzer L, Sado Y, Gubler MC, Antignac C, Scheele J.

Nephrol Dial Transplant. 2002 Jan;17(1):70-4.

15.

Spectrum of clinical features and type IV collagen alpha-chain distribution in Chinese patients with Alport syndrome.

Wei G, Zhihong L, Huiping C, Caihong Z, Zhaohong C, Leishi L.

Nephrol Dial Transplant. 2006 Nov;21(11):3146-54. Epub 2006 Aug 29.

16.

Expression of mRNA for type IV collagen alpha1, alpha5 and alpha6 chains by cultured dermal fibroblasts from patients with X-linked Alport syndrome.

Sasaki S, Zhou B, Fan WW, Kim Y, Barker DF, Denison JC, Atkin CL, Gregory MC, Zhou J, Segal Y, Sado Y, Ninomiya Y, Michael AF, Kashtan CE.

Matrix Biol. 1998 Aug;17(4):279-91.

PMID:
9749944
17.

A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.

Xiu X, Yuan J, Deng X, Xiao J, Xu H, Zeng Z, Guan L, Xu F, Deng S.

Biomed Res Int. 2014;2014:186048. doi: 10.1155/2014/186048. Epub 2014 Jul 6.

18.

[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. Chinese.

PMID:
15651669
19.

[A novel COL4A5 splicing mutation causing Alport syndrome in a Chinese family].

Tang Z, Dai Y, Wan Z, Zhan T, Tan J, Ren X, Liu J, Wang Q, Liu M.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Dec;25(6):649-52. Chinese.

PMID:
19065523
20.

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.

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