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Items: 1 to 20 of 219

1.

Genetic cause of X-linked Alport syndrome in a family of domestic dogs.

Cox ML, Lees GE, Kashtan CE, Murphy KE.

Mamm Genome. 2003 Jun;14(6):396-403.

PMID:
12879362
2.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
3.

X chromosome inactivation patterns in normal and X-linked hereditary nephropathy carrier dogs.

Bell RJ, Lees GE, Murphy KE.

Cytogenet Genome Res. 2008;122(1):37-40. doi: 10.1159/000151314. Epub 2008 Oct 14.

PMID:
18931484
4.

Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.

Kashtan CE.

Medicine (Baltimore). 1999 Sep;78(5):338-60. Review.

5.

Mouse model of X-linked Alport syndrome.

Rheault MN, Kren SM, Thielen BK, Mesa HA, Crosson JT, Thomas W, Sado Y, Kashtan CE, Segal Y.

J Am Soc Nephrol. 2004 Jun;15(6):1466-74.

6.

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
7.

[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
8.

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.

PMID:
11773466
9.

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.

PMID:
17660027
12.

Mutation in alpha 5(IV) collagen chain gene in nonfamilial hematuria.

Kitagawa K, Nakanishi K, Iijima K, Nishio H, Sado Y, Sano K, Nakamura H, Yoshikawa N.

J Am Soc Nephrol. 1995 Aug;6(2):264-8.

13.

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. Epub 2007 Feb 3.

PMID:
17277342
14.

Alport syndrome and thin basement membrane nephropathy.

Thorner PS.

Nephron Clin Pract. 2007;106(2):c82-8. Epub 2007 Jun 6. Review.

PMID:
17570934
15.

The Alport syndrome COL4A5 variant database.

Crockett DK, Pont-Kingdon G, Gedge F, Sumner K, Seamons R, Lyon E.

Hum Mutat. 2010 Aug;31(8):E1652-7. doi: 10.1002/humu.21312.

PMID:
20574986
16.
17.

Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.

Ueki Y, Naito I, Oohashi T, Sugimoto M, Seki T, Yoshioka H, Sado Y, Sato H, Sawai T, Sasaki F, Matsuoka M, Fukuda S, Ninomiya Y.

Am J Hum Genet. 1998 Feb;62(2):253-61.

18.

New form of X-linked dominant hereditary nephritis in dogs.

Lees GE, Helman RG, Kashtan CE, Michael AF, Homco LD, Millichamp NJ, Camacho ZT, Templeton JW, Ninomiya Y, Sado Y, Naito I, Kim Y.

Am J Vet Res. 1999 Mar;60(3):373-83.

PMID:
10188823
19.

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.

20.

Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia.

Ciccarese M, Casu D, Ki Wong F, Faedda R, Arvidsson S, Tonolo G, Luthman H, Satta A.

Nephrol Dial Transplant. 2001 Oct;16(10):2008-12.

PMID:
11572889

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