Zobrazeno 1 - 10
of 60
pro vyhledávání: '"Janine, Genschel"'
Publikováno v:
BioTechniques, Vol 23, Iss 5, Pp 778-779 (1997)
Externí odkaz:
https://doaj.org/article/d105973ef8ce47a580d5339c62465fec
Autor:
Eduardo Luiz Rachid Cançado, Marta Mitiko Deguti, Janine Genschel, Egberto Reis Barbosa, Alexandre Aluizio Costa Machado, Bettina Bochow, Hartmut H.-J. Schmidt
Publikováno v:
Parkinsonism & Related Disorders. 14:246-249
Wilson's disease (WD) is a rare inborn metabolic error characterized by deficient biliary copper excretion secondary to ATP7B gene mutations. Neurological presentations are variable in respect to both pattern and age of onset; commonly a movement dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::879f178e083e0d474f8fa19567826609
https://doi.org/10.1016/j.parkreldis.2007.08.002
https://doi.org/10.1016/j.parkreldis.2007.08.002
Autor:
Wolf Reuter, Heiko Witt, Enno Gentz, T Molnár, Lars Geerdts, Axel Dignass, János Lonovics, Sabine Buhner, Renate Nickel, Ferenc Nagy, Hartmut H.-J. Schmidt, W Luck, Carsten Büning, Olfert Landt, Herbert Lochs, Janine Genschel, Ghyslaine Pitre, Thomas Fiedler
Publikováno v:
The American Journal of Gastroenterology. 101:786-792
OBJECTIVES: Genetic variants within DLG5 were recently reported to be associated with inflammatory bowel disease (IBD). The aim of our study was to test for allelic and haplotype associations of six DLG5 variants in 668 IBD patients from two European
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa465723ae20575a7f2caa01c4fb997f
https://doi.org/10.1111/j.1572-0241.2006.00431.x
https://doi.org/10.1111/j.1572-0241.2006.00431.x
Autor:
I Kuechler, Axel Dignass, H. Lochs, Dana Herrmann, Carsten Büning, K. Kling, H. Schmidt, Janine Genschel, S Krueger, Sabine Buhner
Publikováno v:
Gut. 55:342-347
Background and aim: A genetically impaired intestinal barrier function has long been suspected to be a predisposing factor for Crohn’s disease (CD). Recently, mutations of the capsase recruitment domain family, member 15 ( CARD15 ) gene have been i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9927ab0a925dfbb56f43bd5cb9ff4ff0
https://doi.org/10.1136/gut.2005.065557
https://doi.org/10.1136/gut.2005.065557
Autor:
Thomas Litwin, Beatek Tarnacka, Grzegorz Chabik, Harmut H.J. Schmidt, Janine Genschel, Bettina Bochow, Graznya Gromadzka, M. Rodo, Anna Członkowska
Publikováno v:
Movement Disorders. 21:245-248
We compared the effect of the p.H1069Q mutation and other non-p.H1069Q mutations in ATP7B on the phenotypic expression of Wilson's disease (WD), and assessed whether the clinical phenotype of WD in compound heterozygotes depends on the type of mutati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9b80e4d5511f3485f49ab68a544e424
https://doi.org/10.1002/mds.20671
https://doi.org/10.1002/mds.20671
Autor:
Janine Genschel, Grzegorz Chabik, Bettina Bochow, Hartmut Schmidt, Tomasz Litwin, Beata Tarnacka, Anna Członkowska, M. Rodo, Grażyna Gromadzka
Publikováno v:
Clinical Genetics. 68:524-532
Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism. The clinical phenotype of the disease is varied. It is proposed that this variation may be a result of differential functional disruption of ATPase7B (ATP7B) resulting fro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::494a87dfc68101dac05fb533ed7e0d62
https://doi.org/10.1111/j.1399-0004.2005.00528.x
https://doi.org/10.1111/j.1399-0004.2005.00528.x
Autor:
Hartmut Schmidt, Jürgen Bauditz, Matthias Taupitz, Angelika Ludtke, Howard J. Worman, Wolfram Wermke, Georg Brabant, Martin Koch, Janine Genschel
Publikováno v:
The American Journal of Gastroenterology. 100:2218-2224
Objectives Characterization of familial clusters of subjects with metabolic derangements predisposing to hepatic steatosis and nonalcoholic steatohepatitis could facilitate genomic studies to identify risk factors for their development. Dunnigan-type
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d0e5c322c15c0d4126c54be977905cf
https://doi.org/10.1111/j.1572-0241.2005.00234.x
https://doi.org/10.1111/j.1572-0241.2005.00234.x
Autor:
Y. Manios, N. Manolaki, G. Dedoussis, Bettina Bochow, Hartmut Schmidt, Janine Genschel, E. Tsafantakis, T-E. Sialvera
Publikováno v:
Annals of Human Genetics. 69:268-274
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::29fee9662885493ec9108603bb6580ff
https://doi.org/10.1046/j.1469-1809.2005.00171.x
https://doi.org/10.1046/j.1469-1809.2005.00171.x
Autor:
Hartmut Schmidt, Herbert Lochs, Tina Peters, Peer Flemming, Janine Genschel, Mathias Wilhelmi, Klaus Pethig, Axel Haverich
Publikováno v:
Cardiology. 103:57-62
Lamin A and C are components of the nuclear envelope, located at the nucleoplasmatic surface of the inner nuclear membrane within cells. Recently, mutations within LMNA encoding lamin A/C have been associated with various disease entities including c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::87e1a9cf70d54be6082aecbe86e6c79f
https://doi.org/10.1159/000082048
https://doi.org/10.1159/000082048
Autor:
Axel Dignass, J Ockenga, Sabine Buhner, B. Bochow, Herbert Lochs, C. Büning, Janine Genschel, K. Kling, P. Baier, H. Schmidt, S. Krüger
Publikováno v:
Alimentary Pharmacology & Therapeutics. 19:1073-1078
Summary Background : Mutations within the NOD2/CARD15 gene have recently been shown to be associated with Crohn's disease. Aims : To investigate the clinical impact of the three common NOD2/CARD15 mutations in patients with Crohn's disease. Methods :
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::24eb1e9b867f5a2951b873aeacaab6b9
https://doi.org/10.1111/j.1365-2036.2004.01967.x
https://doi.org/10.1111/j.1365-2036.2004.01967.x