Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Maike Weigell-Weber"'
A NOVEL COMPLEX MUTATION EVENT IN THE PERIPHERIN/RDS GENE IN A FAMILY WITH RETINAL PATTERN DYSTROPHY
Autor:
Isaak Schipper, Bojan Pajic, Ernst R. Büchi, Christoph KRYENBüHL, Maike Weigell-Weber, Martin Hergersberg, Roland Spiegel
Publikováno v:
Retina. 26:947-953
PURPOSE To report a complex mutation in the peripherin/RDS gene found in a family in whom retinal pattern dystrophy is segregating as an autosomal dominant trait. METHODS Clinical data were collected from family members of a large Swiss family affect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdb9c615784d6efb742abf43d19e59c8
https://doi.org/10.1097/01.iae.0000250010.60908.e3
https://doi.org/10.1097/01.iae.0000250010.60908.e3
Autor:
Elmar Messmer, Maike Weigell-Weber, Gian-Marco Sarra, Martin Hergersberg, Dieter Kotzot, Günter Niemeyer
Publikováno v:
Archives of ophthalmology (Chicago, Ill. : 1960). 121(8)
Objectives To describe the clinical phenotype of a novel autosomal recessively inherited vitreoretinal dystrophy in one generation of a family originating from eastern Switzerland. Methods A clinical study including electroretinographic investigation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4129741aca1709c32574b18fbedff47
https://pubmed.ncbi.nlm.nih.gov/12912687
https://pubmed.ncbi.nlm.nih.gov/12912687
Autor:
Elmar Messmer, Dieter Kotzot, Gian-Marco Sarra, Maike Weigell-Weber, Martin Hergersberg, Lodewijk Sandkuijl
Publikováno v:
Archives of ophthalmology (Chicago, Ill. : 1960). 121(8)
Objectives To localize the gene that causes an autosomal recessively inherited vitreoretinal dystrophy that has not been described, to our knowledge, and to analyze a candidate gene mapped to 22q13 (fibulin-1 [ FBLN1 ]). Methods Homozygosity mapping
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed1a1ec8c00b6059069328ba5b395300
https://pubmed.ncbi.nlm.nih.gov/12912698
https://pubmed.ncbi.nlm.nih.gov/12912698
Autor:
Martin Hergersberg, Maike Weigell-Weber, Geoff Daniels, Stefan Kneifel, Klaus Hess, Hans H. Jung, Spyros Kollias, Regula Schiess, Hatem Alkadhi
The McLeod syndrome is an X-linked disorder caused by mutations of the XK gene encoding the XK protein. The syndrome is characterized by absent Kx erythrocyte antigen, weak expression of Kell blood group system antigens, and acanthocytosis. In some a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2531d0ec72f38a0320a2fe9ef669063f
https://www.zora.uzh.ch/id/eprint/234296/
https://www.zora.uzh.ch/id/eprint/234296/
The mutation responsible for Huntington's disease (HD) is an elongated CAG repeat in the coding region of the IT15 gene. A PCR-based test with high sensitivity and accuracy is now available to identify asymptomatic gene carriers and patients. An inve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d04df470b180c0d66e8eb9c0b4dcc81b
https://www.zora.uzh.ch/id/eprint/228307/
https://www.zora.uzh.ch/id/eprint/228307/