J
Jörg Schmidtke
Researcher at Hannover Medical School
Publications - 156
Citations - 4376
Jörg Schmidtke is an academic researcher from Hannover Medical School. The author has contributed to research in topics: Gene & Genetic testing. The author has an hindex of 31, co-authored 149 publications receiving 4198 citations. Previous affiliations of Jörg Schmidtke include University of Göttingen & University of Marburg.
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Journal ArticleDOI
Localization of cystic fibrosis locus to human chromosome 7cen–q22
Brandon J. Wainwright,Peter J. Scambler,Jörg Schmidtke,Eila Watson,H. Y. Law,Martin Farrall,Howard J. Cooke,Hans Eiberg,Robert Williamson +8 more
TL;DR: Tight linkage between the CF locus and an anonymous DNA probe, pJ3.11, which has been assigned to chromosome 7cen–q22 is reported, which is consistent with it being a recessive defect caused by a mutation at a single autosomal locus.
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An estimate of unique DNA sequence heterozygosity in the human genome.
TL;DR: It was confirmed that enzymes containing the dinucleotide CpG in their recognition sequence detect more polymorphic variation than those that do not contain CpP, and most of the polymorphic variations present in the genome must occur in non-coding sequences.
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Characterisation of a human Y chromosome repeated sequence and related sequences in higher primates
TL;DR: Changes in the level of methylation of this sequence in different tissues of human males can be detected with the lowest levels found in sperm and placental DNA.
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TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys‐Dietz syndrome
Krishna K. Singh,Kathrin Rommel,Anjali Mishra,Matthias Karck,Axel Haverich,Jörg Schmidtke,Mine Arslan-Kirchner +6 more
TL;DR: Several point mutations were found in the highly conserved serine/threonine kinase domain of TGFBR2, which has been shown to be associated with a second type of this disorder with typically mild or absent ocular involvement.
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Data storage and DNA banking for biomedical research: informed consent, confidentiality, quality issues, ownership, return of benefits. A professional perspective.
TL;DR: The purpose of this paper is to formulate a professional and scientific view on the social, ethical, and legal issues that impact on data storage and DNA banking practices for biomedical research in Europe.