5 Result(s)
within
R. Waldherr
English
Human Genetics
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Article
X-chromosome methylation ratios as indicators of chromosomal activity: Evidence of intraindividual divergencies among tissues of different embryonal origin
To test whether the differentiation events that lead to the embryonal layers and their derived organs produce divergent X-chromosome activation ratios among the different tissues, the X-chromosome activation r...
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Article
The nephronophthisis complex: clinical and genetic aspects
Familial juvenile nephronophthisis (NPH) and medullary cystic disease (MCD) are hereditary forms of early-onset chronic renal failure caused by the bilateral formation of cysts at the corticomedullary junction...
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Article
Pathology of the human mesangium in situ
Mesangial cells play an important role in the development and progression of human glomerular disease. This article summarizes some important aspects of mesangial properties and behaviour in situ. Intrinsic me...
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Article
Acquired cystic kidney disease —a possible pitfall in genetic counseling
A case of a 24-year-old pregnant woman on dialysis who asked for genetic counseling is reported. Differentiation between nonheritable acquired cystic kidneys and autosomal dominant polycystic kidney disease wi...
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Article
Iatrogenic multiorgan silicone inclusions in dialysis patients
We studied autopsy material of 47 patients who were dialysed between 1969 and 1980 in one center in which silicone tubing was used. In addition, we examined ten patients from two other centers where silicone t...
