Savige J - Search Results

1

Expert consensus guidelines for the genetic diagnosis of Alport syndrome.

Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H. Savige J, et al. Pediatr Nephrol. 2019 Jul;34(7):1175-1189. doi: 10.1007/s00467-018-3985-4. Epub 2018 Jul 9. Pediatr Nephrol. 2019. PMID: 29987460 Free article. Review.

2

Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.

Dagher H, Yan Wang Y, Fassett R, Savige J. Dagher H, et al. Among authors: savige j. Hum Mutat. 2002 Oct;20(4):321-2. doi: 10.1002/humu.9065. Hum Mutat. 2002. PMID: 12325029

3

The genetics of thin basement membrane nephropathy.

Rana K, Wang YY, Buzza M, Tonna S, Zhang KW, Lin T, Sin L, Padavarat S, Savige J. Rana K, et al. Among authors: savige j. Semin Nephrol. 2005 May;25(3):163-70. doi: 10.1016/j.semnephrol.2005.01.008. Semin Nephrol. 2005. PMID: 15880327 Review.

4

Persistent familial hematuria in children and the locus for thin basement membrane nephropathy.

Rana K, Wang YY, Powell H, Jones C, McCredie D, Buzza M, Udawela M, Savige J. Rana K, et al. Among authors: savige j. Pediatr Nephrol. 2005 Dec;20(12):1729-37. doi: 10.1007/s00467-005-2034-2. Epub 2005 Oct 19. Pediatr Nephrol. 2005. PMID: 16235097

5

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. Shaw EA, et al. Among authors: savige j. Nephrol Dial Transplant. 2007 Jan;22(1):104-8. doi: 10.1093/ndt/gfl607. Epub 2006 Oct 27. Nephrol Dial Transplant. 2007. PMID: 17071739

6

Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.

Rana K, Tonna S, Wang YY, Sin L, Lin T, Shaw E, Mookerjee I, Savige J. Rana K, et al. Among authors: savige j. Pediatr Nephrol. 2007 May;22(5):652-7. doi: 10.1007/s00467-006-0393-y. Epub 2007 Jan 10. Pediatr Nephrol. 2007. PMID: 17216251

7

Do mutations in COL4A1 or COL4A2 cause thin basement membrane nephropathy (TBMN)?

Zhang KW, Tonna S, Wang YY, Rana K, Padavarat S, Savige J. Zhang KW, et al. Among authors: savige j. Pediatr Nephrol. 2007 May;22(5):645-51. doi: 10.1007/s00467-006-0391-0. Epub 2007 Jan 10. Pediatr Nephrol. 2007. PMID: 17216253

8

The use of ocular abnormalities to diagnose X-linked Alport syndrome in children.

Zhang KW, Colville D, Tan R, Jones C, Alexander SI, Fletcher J, Savige J. Zhang KW, et al. Among authors: savige j. Pediatr Nephrol. 2008 Aug;23(8):1245-50. doi: 10.1007/s00467-008-0759-4. Epub 2008 Mar 15. Pediatr Nephrol. 2008. PMID: 18343956

9

The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy.

Tonna S, Wang YY, Wilson D, Rigby L, Tabone T, Cotton R, Savige J. Tonna S, et al. Among authors: savige j. Pediatr Nephrol. 2008 Dec;23(12):2201-7. doi: 10.1007/s00467-008-0934-7. Epub 2008 Aug 26. Pediatr Nephrol. 2008. PMID: 18726620

10

Gene symbol: COL4A5. Disease: Alport Syndrome.

Savige J, Tan R, Colville D, Wang Y, Parkin JD, Mathew N, Savige J. Savige J, et al. Hum Genet. 2008 Oct;124(3):301. Hum Genet. 2008. PMID: 18846626 No abstract available.

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