Works matching DE "ALPORT syndrome"
Results: 266
Alport syndrome and pregnancy: a case series and literature review.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Pregnancy outcomes in patients with Alport syndrome.
- Published in:
- 2016
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- Publication type:
- journal article
Good obstetric outcome of consecutive pregnancies in a woman with Alport syndrome.
- Published in:
- 2012
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- Publication type:
- Letter
Surgical Management of Anterior Lenticonus in a Patient with Alport's Syndrome.
- Published in:
- Turkish Journal of Medical Sciences, 2008, v. 38, n. 3, p. 269
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- Publication type:
- Article
Synchronous bilateral urothelial cancer in a kidney recipient.
- Published in:
- International Journal of Urology, 2011, v. 18, n. 12, p. 847, doi. 10.1111/j.1442-2042.2011.02854.x
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- Publication type:
- Article
Identification of a Novel COL4A4 Variant in Compound-Heterozygous State in a Patient With Alport Syndrome and Histological Findings Similar to Focal Segmental Glomerulosclerosis (FSGS).
- Published in:
- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00748
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- Publication type:
- Article
Giant Macular Hole in Alport Syndrome.
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- Ophthalmic Genetics, 2010, v. 31, n. 2, p. 94, doi. 10.3109/13816811003767128
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- Publication type:
- Article
Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties.
- Published in:
- Ophthalmic Genetics, 2000, v. 21, n. 4, p. 217, doi. 10.1076/1381-6810(200012)21:4;1-H;FT217
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- Publication type:
- Article
Novel heterozygous COL4A3 mutation in a family with late-onset ESRD.
- Published in:
- 2010
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- Publication type:
- Case Study
Cyclosporine A treatment in patients with Alport syndrome: a single-center experience.
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- Pediatric Nephrology, 2010, v. 25, n. 7, p. 1269, doi. 10.1007/s00467-010-1484-3
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- Publication type:
- Article
Mutant-type α5(IV) collagen in a mild form of Alport syndrome has residual ability to form a heterotrimer.
- Published in:
- 2010
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- Publication type:
- Abstract
A family with X-linked benign familial hematuria.
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- Pediatric Nephrology, 2010, v. 25, n. 3, p. 545, doi. 10.1007/s00467-009-1370-z
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- Publication type:
- Article
Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23.
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- Pediatric Nephrology, 2009, v. 24, n. 9, p. 1673, doi. 10.1007/s00467-009-1184-z
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- Publication type:
- Article
Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome.
- Published in:
- 2009
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- Publication type:
- Letter
Thrombocytopenia and proteinuria: answer.
- Published in:
- Pediatric Nephrology, 2009, v. 24, n. 3, p. 487, doi. 10.1007/s00467-008-0938-3
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- Publication type:
- Article
The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy.
- Published in:
- Pediatric Nephrology, 2008, v. 23, n. 12, p. 2201, doi. 10.1007/s00467-008-0934-7
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- Publication type:
- Article
Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients.
- Published in:
- 2008
- By:
- Publication type:
- Report
The use of ocular abnormalities to diagnose X-linked Alport syndrome in children.
- Published in:
- Pediatric Nephrology, 2008, v. 23, n. 8, p. 1245, doi. 10.1007/s00467-008-0759-4
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- Publication type:
- Article
Discordance between skin biopsy and kidney biopsy in an X-linked carrier of Alport syndrome.
- Published in:
- 2007
- By:
- Publication type:
- Report
Nine novel COL4A3 and COL4A4 mutations and polymorphisms identified in inherited membrane diseases.
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- Pediatric Nephrology, 2007, v. 22, n. 5, p. 652, doi. 10.1007/s00467-006-0393-y
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- Publication type:
- Article
Diagnosis of Alport syndrome without biopsy?
- Published in:
- 2007
- By:
- Publication type:
- Editorial
Cyclosporin therapy in patients with Alport syndrome.
- Published in:
- Pediatric Nephrology, 2007, v. 22, n. 1, p. 57, doi. 10.1007/s00467-006-0227-y
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- Publication type:
- Article
The effect of aldosterone blockade in patients with Alport syndrome.
- Published in:
- Pediatric Nephrology, 2006, v. 21, n. 12, p. 1824, doi. 10.1007/s00467-006-0270-8
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- Publication type:
- Article
Is genetic testing of healthy pre-symptomatic children with possible Alport syndrome ethical?
- Published in:
- 2006
- By:
- Publication type:
- Editorial
The importance of non-invasive genetic analysis in the initial diagnostics of Alport syndrome in young patients.
- Published in:
- Pediatric Nephrology, 2005, v. 20, n. 9, p. 1260, doi. 10.1007/s00467-005-1975-9
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- Publication type:
- Article
Dysregulation of renal MMP-3 and MMP-7 in canine X-linked Alport syndrome.
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- Pediatric Nephrology, 2005, v. 20, n. 6, p. 732, doi. 10.1007/s00467-004-1805-5
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- Publication type:
- Article
Enalapril in children with Alport syndrome.
- Published in:
- Pediatric Nephrology, 2004, v. 19, n. 3, p. 271, doi. 10.1007/s00467-003-1366-z
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- Publication type:
- Article
Phenotypic and genotypic features of Alport syndrome in Chinese children.
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- Pediatric Nephrology, 2002, v. 17, n. 12, p. 1013, doi. 10.1007/s00467-002-0972-5
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- Publication type:
- Article
Follow-up of two children with basement membrane abnormalities.
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- Pediatric Nephrology, 2001, v. 16, n. 8, p. 688, doi. 10.1007/s004670100612
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- Publication type:
- Article
Two novel alternatively spliced 9-bp exons in the COL4A5 gene.
- Published in:
- Pediatric Nephrology, 2001, v. 16, n. 1, p. 41, doi. 10.1007/s004670000462
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- Publication type:
- Article
Alport-like glomerular changes in a patient with nephrotic syndrome: report of a case.
- Published in:
- Pediatric Nephrology, 2000, v. 14, n. 10/11, p. 973, doi. 10.1007/s004670050055
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- Publication type:
- Article
Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation.
- Published in:
- International Journal of Nephrology & Renovascular Disease, 2018, v. 11, p. 267, doi. 10.2147/IJNRD.S150539
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- Publication type:
- Article
Generation of induced pluripotent stem cells from renal tubular cells of a patient with Alport syndrome.
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- International Journal of Nephrology & Renovascular Disease, 2015, v. 8, p. 101, doi. 10.2147/IJNRD.S85733
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- Publication type:
- Article
Diabetic Renal Disease.
- Published in:
- International Journal of Endocrinology, 2014, p. 1, doi. 10.1155/2014/598015
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- Publication type:
- Article
MicroRNAs in Diabetic Kidney Disease.
- Published in:
- International Journal of Endocrinology, 2014, p. 1, doi. 10.1155/2014/593956
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- Publication type:
- Article
Psychosocial impact of an X-linked hereditary disease: a study of Alport syndrome patients and family members.
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- Child: Care, Health & Development, 2000, v. 26, n. 3, p. 239, doi. 10.1046/j.1365-2214.2000.00140.x
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- Publication type:
- Article
The 2014 International Workshop on Alport Syndrome.
- Published in:
- Kidney International, 2014, v. 86, n. 4, p. 679, doi. 10.1038/ki.2014.229
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- Publication type:
- Article
Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain.
- Published in:
- Kidney International, 2014, v. 85, n. 5, p. 1208, doi. 10.1038/ki.2013.479
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- Publication type:
- Article
Rosen mobilization of the stapes: does it have a place in modern otology?
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- Journal of Laryngology & Otology, 2006, v. 120, n. 12, p. 1067, doi. 10.1017/S0022215106002490
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- Publication type:
- Article
Cochlear implantation in a patient with deafness induced by Charcot–Marie–Tooth disease (hereditary motor and sensory neuropathies).
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- Journal of Laryngology & Otology, 2006, v. 120, n. 6, p. 508, doi. 10.1017/S0022215106000727
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- Publication type:
- Article
Pulmonary function and exercise tolerance are related to disease severity in pre-dialytic patients with chronic kidney disease: a cross-sectional study.
- Published in:
- BMC Nephrology, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2369-14-184
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- Publication type:
- Article
Angiotensin converting enzyme inhibitor therapy in children with Alport syndrome: effect on urinary albumin, TGF-β, and nitr ite excretion.
- Published in:
- BMC Nephrology, 2002, v. 3, p. 2, doi. 10.1186/1471-2369-3-2
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- Publication type:
- Article
Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing.
- Published in:
- Indian Journal of Medical Research, 2016, v. 144, n. 2, p. 200, doi. 10.4103/0971-5916.195026
- By:
- Publication type:
- Article
Loss of the BMP antagonist USAG-1 ameliorates disease in a mouse model of the progressive hereditary kidney disease Alport syndrome.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Alport Syndrome: From Pathogenesis to a Potential Therapy.
- Published in:
- PLoS Medicine, 2006, v. 3, n. 4, p. e154, doi. 10.1371/journal.pmed.0030154
- Publication type:
- Article
Standard Nomenclature for Renal Replacement Therapy in Acute Kidney Injury: Very Much Needed!
- Published in:
- Blood Purification, 2014, v. 38, n. 2, p. I, doi. 10.1159/000370142
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- Publication type:
- Article
Bilateral lens capsule rupture in a patient with previously undiagnosed Alport's syndrome.
- Published in:
- Ophthalmology Journal (2450-7873), 2021, p. 57, doi. 10.5603/OJ.2021.0010
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- Publication type:
- Article
Renal transplantation in patients with Alport syndrome.
- Published in:
- Pediatric Transplantation, 2006, v. 10, n. 6, p. 651, doi. 10.1111/j.1399-3046.2006.00528.x
- By:
- Publication type:
- Article
ELECTROLYTES AND NA<sup>+</sup>-K<sup>+</sup>ATPase: POTENTIAL RISK FACTORS FOR THE DEVELOPMENT OF DIABETIC NEPHROPATHY.
- Published in:
- Pakistan Journal of Pharmaceutical Sciences, 2008, v. 21, n. 2, p. 172
- By:
- Publication type:
- Article
Two-in-One: single coronary ostium and mitral valve prolapsus in a young female with Alport syndrome.
- Published in:
- 2012
- By:
- Publication type:
- Case Study