Works matching Alport syndrome
Results: 1038
Pregnancy complicated with Alport syndrome: A good obstetric outcome and failure to diagnose an infant born to a mother with Alport syndrome by umbilical cord immunofluorescence staining.
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- Journal of Obstetrics & Gynaecology Research, 2009, v. 35, n. 6, p. 1109, doi. 10.1111/j.1447-0756.2009.01069.x
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- Article
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
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- Nephrology Dialysis Transplantation, 2017, v. 32, n. 6, p. 916, doi. 10.1093/ndt/gfw095
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- Article
Siblings with Alport’s syndrome showing unique staining patterns for α5(IV) and α6(IV) chains of collagen type IV.
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- Clinical & Experimental Nephrology, 2010, v. 14, n. 3, p. 283, doi. 10.1007/s10157-010-0265-4
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- Article
Clear Lens Phacoemulsification with Implantation of Intraocular Lens in a Case of Bilateral Anterior Lenticonus Due to Alport Syndrome.
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- Pakistan Journal of Ophthalmology, 2023, v. 39, n. 1, p. 72, doi. 10.36351/pjo.v39i1.1402
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- Article
Improved genetic counseling in Alport syndrome by new variants of COL4A5 gene.
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- Nephrology, 2015, v. 20, n. 7, p. 502, doi. 10.1111/nep.12486
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- Article
Mutation detection of COL4An gene based on mRNA of peripheral blood lymphocytes and prenatal diagnosis of Alport syndrome in China.
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- Nephrology, 2011, v. 16, n. 4, p. 377, doi. 10.1111/j.1440-1797.2010.01438.x
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- Article
Alport syndrome and pregnancy: a case series and literature review.
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- 2018
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- journal article
Maculopathy, Fundus Changes and Anterior Lenticonus in Alport Syndrome.
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- 2021
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- Publication type:
- Case Study
Living related kidney transplantation in a patient with autosomal-recessive Alport syndrome.
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- Clinical Transplantation, 2003, v. 17, p. 4, doi. 10.1034/j.1399-0012.17.s10.5.x
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- Article
Delayed Diagnosis of Alport Syndrome Without Hematuria.
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- Iranian Journal of Kidney Diseases, 2014, v. 8, n. 3, p. 250
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- 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).
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- Frontiers in Genetics, 2019, p. N.PAG, doi. 10.3389/fgene.2018.00748
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- Article
Increased expression of MMP-2, MMP-9 (type IV collagenases/gelatinases), and MT1-MMP in canine X-linked Alport syndrome (XLAS).
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- Kidney International, 2003, v. 63, n. 5, p. 1736, doi. 10.1046/j.1523-1755.2003.00939.x
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- Article
Recurrent corneal erosion associated with Alport's syndrome.
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- Kidney International, 1997, v. 52, n. 1, p. 208, doi. 10.1038/ki.1997.321
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- Publication type:
- Article
Treatment of breast cancer in a patient of Alport syndrome-induced chronic renal failure: A triumph story.
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- 2018
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- Publication type:
- Case Study
Surgical Management of Anterior Lenticonus in a Patient with Alport's Syndrome.
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- Turkish Journal of Medical Sciences, 2008, v. 38, n. 3, p. 269
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- Article
Early lamellar macular hole in Alport syndrome: case report and review of the literature.
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- 2012
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- Publication type:
- Case Study
Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties.
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- Ophthalmic Genetics, 2000, v. 21, n. 4, p. 217, doi. 10.1076/1381-6810(200012)21:4;1-H;FT217
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- Article
Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family.
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- Journal of Genetics, 2017, v. 96, n. 2, p. 389, doi. 10.1007/s12041-017-0786-7
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- Article
ANCA vasculitis in a patient with Alport syndrome: a difficult diagnosis but a treatable disease!
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- 2017
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- Publication type:
- journal article
Immunohistochemical diagnosis of Alport's syndrome in paraffin-embedded renal sections: antigen retrieval with autoclave heating.
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- Medical Electron Microscopy, 2003, v. 36, n. 1, p. 1, doi. 10.1007/s007950300000
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- Article
Explaining Alport syndrome—lessons from the adult nephrology clinic.
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- Journal of Rare Diseases, 2024, v. 3, n. 1, p. 1, doi. 10.1007/s44162-024-00036-z
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- Article
Finerenone and other future therapeutic options for Alport syndrome.
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- Journal of Rare Diseases, 2023, v. 2, n. 1, p. 1, doi. 10.1007/s44162-023-00022-x
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- Article
Bilateral lens capsule rupture in a patient with previously undiagnosed Alport's syndrome.
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- Ophthalmology Journal (2450-7873), 2021, p. 57, doi. 10.5603/OJ.2021.0010
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- Article
End-stage kidney disease due to Alport syndrome: outcomes in 296 consecutive Australia and New Zealand Dialysis and Transplant Registry cases.
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- Nephrology Dialysis Transplantation, 2014, v. 29, n. 12, p. 2277, doi. 10.1093/ndt/gfu254
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- Article
Aortic abnormalities in males with Alport syndrome.
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- Nephrology Dialysis Transplantation, 2010, v. 25, n. 11, p. 3554, doi. 10.1093/ndt/gfq271
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- Article
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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- Article
Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients.
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- 2008
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- Publication type:
- Report
The use of ocular abnormalities to diagnose X-linked Alport syndrome in children.
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- Pediatric Nephrology, 2008, v. 23, n. 8, p. 1245, doi. 10.1007/s00467-008-0759-4
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- Article
The effect of aldosterone blockade in patients with Alport syndrome.
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- Pediatric Nephrology, 2006, v. 21, n. 12, p. 1824, doi. 10.1007/s00467-006-0270-8
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- Article
The importance of non-invasive genetic analysis in the initial diagnostics of Alport syndrome in young patients.
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- Pediatric Nephrology, 2005, v. 20, n. 9, p. 1260, doi. 10.1007/s00467-005-1975-9
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- Article
Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation.
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- International Journal of Nephrology & Renovascular Disease, 2018, v. 11, p. 267, doi. 10.2147/IJNRD.S150539
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- Article
Progressive Posterior Lenticonus in a Patient with Alport Syndrome.
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- 2010
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- Publication type:
- Case Study
A Case of Alport's Syndrome with Nyctalopia.
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- Retina-Vitreus/Journal of Retina-Vitreous, 2017, v. 26, n. 1, p. 75
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- Article
A Case of Alport's Syndrome with Nyctalopia.
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- Retina-Vitreus/Journal of Retina-Vitreous, 2017, v. 25, p. 76
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- Article
Temporal Bone Histopathology of X‐linked Inherited Alport Syndrome.
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- Laryngoscope Investigative Otolaryngology, 2018, v. 3, n. 4, p. 311, doi. 10.1002/lio2.177
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- Article
Regulation of collagen type IV genes is organ-specific: Evidence from a canine model of Alport syndrome.
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- Kidney International, 2005, v. 68, n. 5, p. 2121, doi. 10.1111/j.1523-1755.2005.00668.x
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- Article
A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.
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- Kidney International, 2004, v. 65, n. 6, p. 2030, doi. 10.1111/j.1523-1755.2004.00622.x
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- Article
GENETIC DISORDERS - DEVELOPMENT Autosomal-dominant Alport syndrome: Natural history of a disease due to COL4A3 or COL4A4 gene.
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- Kidney International, 2004, v. 65, n. 5, p. 1598, doi. 10.1111/j.1523-1755.2004.00560.x
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- Article
En face optical coherence tomography findings in a case of Alport syndrome.
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- Indian Journal of Ophthalmology, 2017, v. 65, n. 9, p. 877, doi. 10.4103/ijo.IJO_303_17
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- Article
Linking Genetics and Mechanics in Structural Protein Materials: A Case Study of an Alport Syndrome Mutation in Tropocollagen.
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- Mathematics & Mechanics of Solids, 2010, v. 15, n. 7, p. 755, doi. 10.1177/1081286510374550
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- Article
Review of the literature on Alport syndrome: A rare cause of nephrotic syndrome.
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- Annals of Medical of Research, 2021, v. 28, n. 9, p. 1791, doi. 10.5455/annalsmedres.2020.08.859
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- Article
Renal transplantation in patients with Alport syndrome.
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- Pediatric Transplantation, 2006, v. 10, n. 6, p. 651, doi. 10.1111/j.1399-3046.2006.00528.x
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- Publication type:
- Article
Pregnancy outcomes in patients with Alport syndrome.
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- 2016
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- Publication type:
- journal article
Angiotensin converting enzyme inhibitor therapy in children with Alport syndrome: effect on urinary albumin, TGF-β, and nitr ite excretion.
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- BMC Nephrology, 2002, v. 3, p. 2, doi. 10.1186/1471-2369-3-2
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- Publication type:
- Article
Cyclosporin A may cause injury to undifferentiated glomeruli persisting in patients with Alport syndrome.
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- Clinical & Experimental Nephrology, 2014, v. 18, n. 3, p. 492, doi. 10.1007/s10157-013-0836-2
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- Publication type:
- Article
Attitudes toward genetic diagnosis and prenatal diagnosis of X-linked Alport syndrome in China.
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- Nephrology, 2012, v. 17, n. 4, p. 398, doi. 10.1111/j.1440-1797.2012.01562.x
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- Publication type:
- Article
The Transition from Thin Basement Membranes to Typical Alport Syndrome Morphology in Children.
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- Fetal & Pediatric Pathology, 2016, v. 35, n. 6, p. 369, doi. 10.1080/15513815.2016.1202362
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- Article
Genetic testing can resolve diagnostic confusion in Alport syndrome.
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- Clinical Kidney Journal, 2014, v. 7, n. 2, p. 197, doi. 10.1093/ckj/sft144
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- Article
STAT3 inhibition attenuates the progressive phenotypes of Alport syndrome mouse model.
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- Nephrology Dialysis Transplantation, 2018, v. 33, n. 2, p. 214, doi. 10.1093/ndt/gfx246
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- Publication type:
- Article
A patient with MEN1 and end-stage chronic kidney disease due to Alport syndrome: Decision making on the eligibility of transplantation.
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- Molecular & Clinical Oncology, 2018, v. 8, n. 3, p. 449, doi. 10.3892/mco.2017.1542
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- Publication type:
- Article