Works matching DE "ALPORT syndrome"
Results: 266
Female X-linked Alport syndrome with somatic mosaicism.
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- Clinical & Experimental Nephrology, 2017, v. 21, n. 5, p. 877, doi. 10.1007/s10157-016-1352-y
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- Article
Glomerular basement membrane (GBM) abnormalities are worth pursuing.
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- Clinical & Experimental Nephrology, 2015, v. 19, n. 3, p. 329, doi. 10.1007/s10157-014-1025-7
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- 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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- 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
Alport syndrome: its effects on the glomerular filtration barrier and implications for future treatment.
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- Journal of Physiology, 2014, v. 592, n. 18, p. 4013, doi. 10.1113/jphysiol.2014.274449
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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
Simultaneous adult polycystic kidney disease and Alport syndrome.
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- Nephrology, 2016, v. 21, n. 8, p. 722, doi. 10.1111/nep.12661
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- Article
Corrigendum.
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- Nephrology, 2016, v. 21, n. 4, p. 346, doi. 10.1111/nep.12725
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- Article
Novel COL4A3 gene mutations in a consanguineous family with autosomal recessive Alport syndrome.
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- Nephrology, 2015, v. 20, n. 8, p. 580, doi. 10.1111/nep.12430
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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
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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- 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
LACK OF SEGREGATION OF HAEMATURIA IN THIN BASEMENT MEMBRANE DISEASE (TBMD) WITH HAPLOTYPES AT THE LOCI FOR NIDOGEN, PERLECAN, FIBRONECTIN AND LAMININ.
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- Nephrology, 2000, v. 5, n. 3, p. A94, doi. 10.1046/j.1440-1797.2000.abs111.x
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- Article
Potential Role of Endothelin-1 (ET-1)/Endothelin B (ETB)-Receptor in Tubulointerstitial Fibrosis Caused by Proteinuria in COL4A3 Knockout Mice.
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- Kidney & Blood Pressure Research, 2004, v. 27, n. 5/6, p. 405
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- Article
Diabetic Renal Disease.
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- International Journal of Endocrinology, 2014, p. 1, doi. 10.1155/2014/598015
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- Article
MicroRNAs in Diabetic Kidney Disease.
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- International Journal of Endocrinology, 2014, p. 1, doi. 10.1155/2014/593956
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- Article
IgA NEFROPATİSİ VE SENSÖRİNÖRAL İŞİTME AZLIĞI BİRLİKTELİĞİ.
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- Nobel Medicus Journal, 2011, v. 7, n. 2, p. 114
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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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- Case Study
Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome.
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- Human Genetics, 2002, v. 111, n. 6, p. 548, doi. 10.1007/s00439-002-0830-3
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- Article
Using a dual kernel density estimate as a preliminary evaluation of the spatial distribution of diagnosed chronic kidney disease (CKD) in Edo State, Nigeria.
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- GeoJournal, 2015, v. 80, n. 5, p. 711, doi. 10.1007/s10708-014-9590-6
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- Article
Beneficial Effects of Olmesartan and Temocapril on Urinary Liver-Type Fatty Acid-Binding Protein Levels in Normotensive Patients With Immunoglobin A Nephropathy
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- American Journal of Hypertension, 2007, v. 20, n. 11, p. 1195, doi. 10.1016/j.amjhyper.2007.06.003
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- Article
Evaluation of Lenticonus in Alports Syndrome: Quantitative Scheimpflug Analysis.
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- Ophthalmologica, 2003, v. 217, n. 3, p. 189, doi. 10.1159/000068978
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- Article
Retinal Detachment After Macular Hole Repair in Alport Syndrome.
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- Ophthalmic Surgery, Lasers & Imaging Retina, 2024, v. 55, n. 5, p. 289, doi. 10.3928/23258160-20240208-01
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- Article
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
Spontaneous Coronary Artery Dissection: A Rare Manifestation of Alport Syndrome.
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- Case Reports in Cardiology, 2017, p. 1, doi. 10.1155/2017/1705927
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- Article
Simultaneous Bilateral Anterior and Posterior Lenticonus in Alport Syndrome.
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- 2017
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- Case Study
A Brief Review of Rhazes, Avicenna, and Jorjani's Views on Diagnosis of Diseases Through Urine Examination.
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- Iranian Journal of Kidney Diseases, 2014, v. 8, n. 4, p. 278
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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
Two-in-One: single coronary ostium and mitral valve prolapsus in a young female with Alport syndrome.
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- 2012
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- Case Study
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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- 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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- Article
Increased calcium oxalate crystal nucleation and aggregation by peroxidized protein of human kidney stone matrix and renal cells.
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- Urological Research, 2001, v. 29, n. 3, p. 194, doi. 10.1007/s002400100177
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- Article
Multiple giant leiomyomas of the esophagus and stomach.
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- Diseases of the Esophagus, 2006, v. 19, n. 6, p. 504, doi. 10.1111/j.1442-2050.2006.00612.x
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- Article
Diagnosis and management of diffuse leiomyomatosis of the oesophagus.
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- Diseases of the Esophagus, 2000, v. 13, n. 2, p. 169, doi. 10.1046/j.1442-2050.2000.00107.x
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- Article
Structure-function correlation of focal and diffuse temporal perifoveolar thinning in Alport syndrome.
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- Clinical & Experimental Ophthalmology, 2014, v. 42, n. 7, p. 699, doi. 10.1111/ceo.12241
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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
Identification of six novel MYH9 mutations and genotype–phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
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- Journal of Human Genetics, 2001, v. 46, n. 12, p. 722, doi. 10.1007/s100380170007
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- Article
Two novel alternatively spliced 9-bp exons in the COL4A5 gene.
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- Pediatric Nephrology, 2001, v. 16, n. 1, p. 41, doi. 10.1007/s004670000462
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- Article
Alport-like glomerular changes in a patient with nephrotic syndrome: report of a case.
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- Pediatric Nephrology, 2000, v. 14, n. 10/11, p. 973, doi. 10.1007/s004670050055
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- Article
Sporadic case of X-chromosomal Alport syndrome in a consanguineous family.
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- Pediatric Nephrology, 2000, v. 14, n. 8/9, p. 758, doi. 10.1007/PL00013431
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- Article
A novel G472R mutation in a Turkish family with X-linked Alport syndrome.
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- Pediatric Nephrology, 2000, v. 14, n. 6, p. 480, doi. 10.1007/s004670050797
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- Article
Alport syndromes: phenotypic heterogeneity of progressive hereditary nephritis.
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- Pediatric Nephrology, 2000, v. 14, n. 6, p. 502, doi. 10.1007/s004670050804
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- Article
Mutational analysis of COL4A5 gene in Korean Alport syndrome.
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- Pediatric Nephrology, 2000, v. 14, n. 2, p. 117, doi. 10.1007/s004670050025
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- Article
Coexistence of thin membrane and Alport nephropathies in families with haematuria.
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- Pediatric Nephrology, 1999, v. 13, n. 9, p. 778, doi. 10.1007/s004670050699
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- Article
Hereditary glomerulopathy associated with a mitochondrial tRNA<sup>Leu</sup> gene mutation.
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- Pediatric Nephrology, 1999, v. 13, n. 6, p. 477, doi. 10.1007/s004670050641
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The burden of genetic disease and attitudes towards gene testing in Alport syndrome.
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- Pediatric Nephrology, 1999, v. 13, n. 6, p. 471
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- Article
Alport syndrome with neurofibromatosis type-I: a case report.
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- Pediatric Nephrology, 1997, v. 11, n. 5, p. 649, doi. 10.1007/s004670050358
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- Article
Absence of α6(IV) collagen in kidney and skin of X-linked Alport syndrome patients.
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- Pediatric Nephrology, 1996, v. 10, n. 6, p. 742, doi. 10.1007/s004670050206
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- Article
Unusual Hair Changes with Minoxidil Therapy.
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- International Journal of Dermatology, 1983, v. 22, n. 2, p. 120, doi. 10.1111/j.1365-4362.1983.tb03329.x
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- Article