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Items: 1 to 20 of 595

1.

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

Kashtan CE.

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

2.

Clinical and molecular diagnosis of Alport syndrome.

Kashtan CE.

Proc Assoc Am Physicians. 1995 Oct;107(3):306-13. Review.

PMID:
8608415
3.

Alport syndrome. A review of the ocular manifestations.

Colville DJ, Savige J.

Ophthalmic Genet. 1997 Dec;18(4):161-73. Review.

PMID:
9457747
4.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
5.

[Alport syndrome or progressive hereditary nephritis with hearing loss].

Gubler MC, Heidet L, Antignac C.

Nephrol Ther. 2007 Jun;3(3):113-20. Epub 2007 May 8. French.

PMID:
17540313
6.

Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).

Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP.

Nephrol Dial Transplant. 1997 Aug;12(8):1595-9.

7.

A novel model of autosomal dominant Alport syndrome in Dalmatian dogs.

Hood JC, Huxtable C, Naito I, Smith C, Sinclair R, Savige J.

Nephrol Dial Transplant. 2002 Dec;17(12):2094-8.

8.

Alport syndrome and thin basement membrane nephropathy.

Thorner PS.

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

PMID:
17570934
9.
10.
11.

Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis.

Garcia-Torres R, Cruz D, Orozco L, Heidet L, Gubler MC.

Nephrologie. 2000;21(1):9-12. Review.

PMID:
10730274
12.

Organization and expression of basement membrane collagen IV genes and their roles in human disorders.

Sado Y, Kagawa M, Naito I, Ueki Y, Seki T, Momota R, Oohashi T, Ninomiya Y.

J Biochem. 1998 May;123(5):767-76. Review.

13.

The renal lesions of Alport syndrome.

Heidet L, Gubler MC.

J Am Soc Nephrol. 2009 Jun;20(6):1210-5. doi: 10.1681/ASN.2008090984. Epub 2009 May 21. Review.

14.

A COL4A3 gene mutation and post-transplant anti-alpha 3(IV) collagen alloantibodies in Alport syndrome.

Kalluri R, van den Heuvel LP, Smeets HJ, Schroder CH, Lemmink HH, Boutaud A, Neilson EG, Hudson BG.

Kidney Int. 1995 Apr;47(4):1199-204.

15.

Type IV collagen alpha 5 chain. Normal distribution and abnormalities in X-linked Alport syndrome revealed by monoclonal antibody.

Yoshioka K, Hino S, Takemura T, Maki S, Wieslander J, Takekoshi Y, Makino H, Kagawa M, Sado Y, Kashtan CE.

Am J Pathol. 1994 May;144(5):986-96.

16.

Alport syndrome: from bedside to genome to bedside.

Kashtan CE, Michael AF.

Am J Kidney Dis. 1993 Nov;22(5):627-40. Review.

PMID:
8238007
17.

Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization.

Heidet L, Cai Y, Sado Y, Ninomiya Y, Thorner P, Guicharnaud L, Boye E, Chauvet V, Solal LC, Beziau A, Torres RG, Antignac C, Gubler MC.

Lab Invest. 1997 Feb;76(2):233-43.

PMID:
9042160
18.

Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys.

Heidet L, Cai Y, Guicharnaud L, Antignac C, Gubler MC.

Am J Pathol. 2000 Jun;156(6):1901-10.

19.

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.

20.

The clinical spectrum of type IV collagen mutations.

Lemmink HH, Schröder CH, Monnens LA, Smeets HJ.

Hum Mutat. 1997;9(6):477-99. Review.

PMID:
9195222
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