Savige J - Search Results

1

A female with X-linked Alport syndrome and compound heterozygous COL4A5 mutations.

Mohammad M, Nanra R, Colville D, Trevillian P, Wang Y, Storey H, Flinter F, Savige J. Mohammad M, et al. Among authors: savige j. Pediatr Nephrol. 2014 Mar;29(3):481-5. doi: 10.1007/s00467-013-2682-6. Epub 2013 Dec 12. Pediatr Nephrol. 2014. PMID: 24337245

2

A study of long-term morbidity associated with autosomal recessive polycystic kidney disease.

Jamil B, McMahon LP, Savige JA, Wang YY, Walker RG. Jamil B, et al. Among authors: savige ja. Nephrol Dial Transplant. 1999 Jan;14(1):205-9. doi: 10.1093/ndt/14.1.205. Nephrol Dial Transplant. 1999. PMID: 10052511 No abstract available.

3

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

4

Visual impairment caused by retinal abnormalities in mesangiocapillary (membranoproliferative) glomerulonephritis type II ("dense deposit disease").

Colville D, Guymer R, Sinclair RA, Savige J. Colville D, et al. Among authors: savige j. Am J Kidney Dis. 2003 Aug;42(2):E2-5. doi: 10.1016/s0272-6386(03)00665-6. Am J Kidney Dis. 2003. PMID: 12900843

5

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

6

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

7

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

8

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

9

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

10

Retinal atrophy associated with FSGS in a patient with MELAS syndrome.

Deva R, Colville D, Savige J. Deva R, et al. Among authors: savige j. Kidney Int. 2008 Jul;74(2):252. doi: 10.1038/sj.ki.5002736. Kidney Int. 2008. PMID: 18591951 Free article. No abstract available.

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