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Items: 1 to 20 of 117

1.

Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy.

Savige J, Gregory M, Gross O, Kashtan C, Ding J, Flinter F.

J Am Soc Nephrol. 2013 Feb;24(3):364-75. doi: 10.1681/ASN.2012020148. Epub 2013 Jan 24. Review.

2.

Alport Syndrome and Thin Basement Membrane Nephropathy.

Kashtan CE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2001 Aug 28 [updated 2015 Nov 25].

3.

[Collagen type IV nephropathy: from thin basement membrane nephropathy to Alport syndrome].

Endreffy E, Ondrik Z, Kemény E, Vas Z, Maróti Z, Lencse G, Bereczki C, Haszon I, Túri S, Iványi B.

Orv Hetil. 2005 Dec 25;146(52):2647-53. Hungarian.

PMID:
16468607
4.

Thin basement membrane nephropathy.

Savige J, Rana K, Tonna S, Buzza M, Dagher H, Wang YY.

Kidney Int. 2003 Oct;64(4):1169-78. Review.

5.

Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis.

Haas M.

Arch Pathol Lab Med. 2009 Feb;133(2):224-32. doi: 10.1043/1543-2165-133.2.224. Review.

PMID:
19195966
6.
7.

COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome.

Buzza M, Wang YY, Dagher H, Babon JJ, Cotton RG, Powell H, Dowling J, Savige J.

Kidney Int. 2001 Aug;60(2):480-3.

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.

[Clinical and genetic features of the Alport 'syndromes'].

Pescucci C, Longo I, Mari F, Scala E, Bruttini M, Caselli R, Renieri A.

G Ital Nefrol. 2005 Sep-Oct;22(5):466-76. Review. Italian.

PMID:
16267804
10.

Spectrum of collagen type IV nephropathies: from thin basement membrane nephropathy to Alport syndrome.

Vizjak A, Ferluga D.

Srp Arh Celok Lek. 2008 Dec;136 Suppl 4:323-6. Review.

11.

Clinical and genetic features in autosomal recessive and X-linked Alport syndrome.

Wang Y, Sivakumar V, Mohammad M, Colville D, Storey H, Flinter F, Dagher H, Savige J.

Pediatr Nephrol. 2014 Mar;29(3):391-6. doi: 10.1007/s00467-013-2643-0. Epub 2013 Nov 2.

PMID:
24178893
12.

Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations.

Temme J, Peters F, Lange K, Pirson Y, Heidet L, Torra R, Grunfeld JP, Weber M, Licht C, Müller GA, Gross O.

Kidney Int. 2012 Apr;81(8):779-83. doi: 10.1038/ki.2011.452. Epub 2012 Jan 11.

13.

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.

Marcocci E, Uliana V, Bruttini M, Artuso R, Silengo MC, Zerial M, Bergesio F, Amoroso A, Savoldi S, Pennesi M, Giachino D, Rombolà G, Fogazzi GB, Rosatelli C, Martinhago CD, Carmellini M, Mancini R, Di Costanzo G, Longo I, Renieri A, Mari F.

Nephrol Dial Transplant. 2009 May;24(5):1464-71. doi: 10.1093/ndt/gfn681. Epub 2009 Jan 7.

PMID:
19129241
14.

Alport Syndrome in Women and Girls.

Savige J, Colville D, Rheault M, Gear S, Lennon R, Lagas S, Finlay M, Flinter F.

Clin J Am Soc Nephrol. 2016 Sep 7;11(9):1713-20. doi: 10.2215/CJN.00580116. Epub 2016 Jun 10.

PMID:
27287265
15.

Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome.

Shaw EA, Colville D, Wang YY, Zhang KW, Dagher H, Fassett R, Guymer R, Savige J.

Nephrol Dial Transplant. 2007 Jan;22(1):104-8. Epub 2006 Oct 27.

PMID:
17071739
16.

Alport syndrome. A review of the ocular manifestations.

Colville DJ, Savige J.

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

PMID:
9457747
17.

COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.

Ramzan K, Imtiaz F, Taibah K, Alnufiee S, Akhtar M, Al-Hazzaa SA, Al-Owain M.

Int J Pediatr Otorhinolaryngol. 2014 Mar;78(3):427-32. doi: 10.1016/j.ijporl.2013.12.008. Epub 2013 Dec 18.

PMID:
24398087
18.

[Collagen IV (alpha3-alpha4) nephropathy].

Torra R, Tazón B, Ars E, Ballarín J.

Nefrologia. 2005;25 Suppl 2:29-32. Spanish.

19.

[Diagnosis of Alport syndrome].

Frascà GM, Taruscia D, Nastasi V, Balestra E, Pugliese S, Mazzucchelli R.

G Ital Nefrol. 2015;32 Suppl 64. pii: gin/32.S64.5. Italian.

PMID:
26479052
20.

Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties.

Colville D, Wang YY, Jamieson R, Collins F, Hood J, Savige J.

Ophthalmic Genet. 2000 Dec;21(4):217-25.

PMID:
11135492

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