Search Results - "Christen‐Zäch, S."

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    Pseudoxanthoma elasticum : evaluation of diagnostic criteria based on molecular data by CHRISTEN-ZÄCH, S, HUBER, M, STRUK, B, LINDPAINTNER, K, MUNIER, F, PANIZZON, R. G, HOHL, D

    Published in British journal of dermatology (1951) (01-07-2006)
    “…Pseudoxanthoma elasticum (PXE) is a genetic disorder due to mutations in the gene encoding the transmembrane transporter protein adenosine triphosphate binding…”
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    Journal Article
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    Reply to a correspondence addressing the European guideline for treatment of atopic eczema, functional textiles and the CLOTHES trial by Wollenberg, A., Schmid‐Grendelmeier, P., ChristenZäch, S., Ring, J.

    “…Linked article: This article is commented on by B. Wüthrich et al., pp. e151–e153 in this issue. To view this article visit https://doi.org/10.1111/jdv.15382…”
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    A CADASIL case with normal skin biopsy and without mutations in exons 3 and 4 of the Notch3 gene by de Freitas, G.R, Miklossy, J, Christen-Zäch, S, Reichhart, M, Bogousslavsky, J

    Published in Journal of the neurological sciences (15-12-2001)
    “…The diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is usually confirmed by genetic testing…”
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    Pseudoxanthoma elasticum: evaluation of diagnostic criteria based on molecular data by ChristenZäch, S., Huber, M., Struk, B., Lindpaintner, K., Munier, F., Panizzon, R.G., Hohl, D.

    Published in British journal of dermatology (1951) (01-07-2006)
    “…Summary Background  Pseudoxanthoma elasticum (PXE) is a genetic disorder due to mutations in the gene encoding the transmembrane transporter protein adenosine…”
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    Journal Article
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    Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6 by Miksch, Sara, Lumsden, Amanda, Guenther, Ulf P., Foernzler, Dorothee, Christen-Zäch, Stéphanie, Daugherty, Carol, Ramesar, Raj Kumar S., Lebwohl, Mark, Hohl, Daniel, Neldner, Kenneth H., Lindpaintner, Klaus, Richards, Robert I., Struk, Berthold

    Published in Human mutation (01-09-2005)
    “…Pseudoxanthoma elasticum (PXE) is a systemic heritable disorder that affects the elastic tissue in the skin, eye, and cardiovascular system. Mutations in the…”
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