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Scholar Results 1 - 10 of about 101 related to Colville: Ocular abnormalities in thin basement membrane disease. (0.11 sec) 

Ocular abnormalities in thin basement membrane disease


D Colville, J Savige, P Branley, D Wilson - British Journal of Ophthalmology, 1997 - bjo.bmj.com
AIM/BACKGROUND Alport syndrome is an X linked disease that results in renal
failure, deafness, and ocular abnormalities including a dot and fleck
retinopathy and anterior lenticonus. The ultrastructural appearance of the ...
Cited by 6 - Related articles - BL Direct - All 7 versions

[CITATION] An electron microscopic evaluation of the width of normal basement membrane in children …


P Bloom, J Hartmann, R Vernier - J Pathol, 1984
Cited by 2 - Related articles

Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 …


MA Blasi, R Rinaldi, A Renieri, R Petrucci, C … - American Journal of Ophthalmology, 2000 - Elsevier
%PURPOSE: To describe an unusual form of dot-and-fleck retinopathy in a slower
progressive form of X-linked Alport syndrome, caused by a novel missense
mutation in the COL4A5 gene. ... METHOD: Ophthalmic examination, ...
Cited by 3 - Related articles - BL Direct - All 8 versions

Alport syndrome: renal transplantation and donor selection


CE Kashtan - Renal Failure, 2000 - informahealthcare.com
At present, renal transplantation is the only available treatment for Alport
syndrome. The data of the North American Pediatric Renal Transplant Cooperative
Study (NAPRTCS) document equivalent allograft survival rates in patients ...
Cited by 3 - Related articles - BL Direct - All 5 versions

Benign familial hematuria associated with a novel COL4A4 mutation


S Ozen, D Ertoy, L Heidet, L Cohen-Solal, H … - Pediatric Nephrology, 2001 - Springer
Abstract We describe a father and three offspring with hematuria. The father and
one girl also complained of flank pain. Renal function tests and
ophthalmological examinations were normal in all. The father had very mild ...
Cited by 17 - Related articles - BL Direct - All 2 versions

[PDF] Evolution of glomerular basement membrane lesions in a male patient with Alport syndrome: …


AM Cangiotti, A Sessa, M Meroni, R Montironi, … - Nephrology Dialysis Transplantation, 1996 - ERA-EDTA
AM Cangiotti 1 , A. Sessa 2 , M. Meroni 2 , R. Montironi 3 , M. Ragaiolo 4 , V.
Mambelli 5 and S. Cinti 1 ... 'Istituto di Morfologia Umana Normale, Servizio
di Microscopia Elettronica, Universita degli Studi, Ancona;
Cited by 8 - Related articles - All 3 versions

[CITATION] Spontaneous anterior capsular rupture in Alport syndrome.


S Oto, P Aydin - Eye (London, England), 1998 - ncbi.nlm.nih.gov
1: Eye. 1998;12 ( Pt 1):152-3. Spontaneous anterior capsular rupture in
Alport syndrome. Oto S, Aydin P. Publication Types: Case ...
Cited by 4 - Related articles

Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals …


BK Thielen, DF Barker, RD Nelson, J Zhou, … - Human Mutation, 2003 - interscience.wiley.com
Diffuse leiomyomatosis is associated with the inherited kidney disease Alport
syndrome, and characterized by visceral smooth muscle overgrowth within the
respiratory, gastrointestinal and female reproductive tracts. Although ...
Cited by 4 - Related articles - All 2 versions

Surgical management of anterior lenticonus in Alport's syndrome


I Mavrikakis, C Zeilmaker, MJ Wearne - Eye(London. 1987), 2002 - cat.inist.fr
Surgical management of anterior lenticonus in Alport's syndrome. I MAVRIKAKIS,
C ZEILMAKER, MJ WEARNE Eye(London. 1987) 16:66, 798 ...
Cited by 5 - Related articles - BL Direct - All 2 versions

[CITATION] Three novel mutations in the COL4A5 gene in Mexican Alport syndrome patients.


D Cruz-Robles, R Garcia-Torres, C Antignac, … - Clinical genetics, 1999 - ncbi.nlm.nih.gov
1: Clin Genet. 1999 Sep;56(3):242-3. Three novel mutations in the COL4A5
gene in Mexican Alport syndrome patients. Cruz-Robles D ...
Cited by 5 - Related articles - BL Direct - All 3 versions


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