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Archives of Otolaryngology - Head and Neck Surgery, 1970
Five patients representing four kindreds of Alport's syndrome (approximately 5% of the reported world literature) are presented with emphasis on the audiological, electronystagmographic, and temporal bone findings. This syndrome is characterized by the two basic hereditary defects of sensorineural hearing loss and nephritis.
G W, Miller +3 more
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Five patients representing four kindreds of Alport's syndrome (approximately 5% of the reported world literature) are presented with emphasis on the audiological, electronystagmographic, and temporal bone findings. This syndrome is characterized by the two basic hereditary defects of sensorineural hearing loss and nephritis.
G W, Miller +3 more
openaire +2 more sources
International Journal of Nursing Education and Research, 2021
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive Hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease.
Karpagam J., Pandimeena. P
openaire +1 more source
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive Hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease.
Karpagam J., Pandimeena. P
openaire +1 more source
Advances in Kidney Disease and Health
Alport syndrome (AS) is characterized by progressive kidney failure, hematuria, sensorineural hearing loss, and ocular abnormalities. Pathogenic variants in the COL4A3-5 genes result in a defective deposition of the collagen IV α3α4α5 protomers in the basement membranes of the glomerulus in the kidney, the cochlea in the ear and the cornea, lens ...
Efren Chavez +3 more
+5 more sources
Alport syndrome (AS) is characterized by progressive kidney failure, hematuria, sensorineural hearing loss, and ocular abnormalities. Pathogenic variants in the COL4A3-5 genes result in a defective deposition of the collagen IV α3α4α5 protomers in the basement membranes of the glomerulus in the kidney, the cochlea in the ear and the cornea, lens ...
Efren Chavez +3 more
+5 more sources
Journal of biological regulators and homeostatic agents, 2019
Alport's syndrome (AS, OMIM 301050) is a hereditary disorder characterized by progressive renal failure, hearing impairment and ocular changes. It is clinically and genetically heterogeneous and in its natural history, renal disease progresses from microscopic haematuria to proteinuria, and finally to progressive renal insufficiency. AS is caused by an
Bruni, V +14 more
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Alport's syndrome (AS, OMIM 301050) is a hereditary disorder characterized by progressive renal failure, hearing impairment and ocular changes. It is clinically and genetically heterogeneous and in its natural history, renal disease progresses from microscopic haematuria to proteinuria, and finally to progressive renal insufficiency. AS is caused by an
Bruni, V +14 more
openaire +3 more sources
2015
Alport syndrome is an inherited renal disorder characterized by early haematuria, progressing to proteinuria, sensorineural hearing loss, and progressive renal failure typically in the third or fourth decade but with wide variation. It is responsible for about 1% of end-stage renal failure. Over 80% of cases are X-linked and young men are most affected,
Laurence Heidet +2 more
+4 more sources
Alport syndrome is an inherited renal disorder characterized by early haematuria, progressing to proteinuria, sensorineural hearing loss, and progressive renal failure typically in the third or fourth decade but with wide variation. It is responsible for about 1% of end-stage renal failure. Over 80% of cases are X-linked and young men are most affected,
Laurence Heidet +2 more
+4 more sources
2004
Abstract Alport syndrome (AS) is the most common hereditary nephropathy, with a gene frequency of 1 in 5000. It causes 0.6 per cent of cases of chronic renal failure in Europe (Rigden et al. 1996). The majority of cases are inherited in an X-linked fashion, with a very variable phenotype in women.
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Abstract Alport syndrome (AS) is the most common hereditary nephropathy, with a gene frequency of 1 in 5000. It causes 0.6 per cent of cases of chronic renal failure in Europe (Rigden et al. 1996). The majority of cases are inherited in an X-linked fashion, with a very variable phenotype in women.
openaire +1 more source
Alport Syndrome: Achieving Early Diagnosis and Treatment
American Journal of Kidney Diseases, 2021Clifford E Kashtan
exaly