Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Bettina Bochow"'
Autor:
Janine Büttner, S Naranjo, Elisabeth Blüthner, Ulrich-Frank Pape, S Maasberg, Bettina Bochow, M Werich
Publikováno v:
Zeitschrift für Gastroenterologie.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f2a01d1db266191261518393d6845ac
https://doi.org/10.1055/s-0039-1695164
https://doi.org/10.1055/s-0039-1695164
Autor:
Sabina Naranjo, Sebastian Massberg, Ulrich-Frank Pape, Bettina Bochow, Martina Werich, Janine Büttner
Publikováno v:
Transplantation. 103:S37-S37
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0ad699cb80ce2f0b24969dde31913cd9
https://doi.org/10.1097/01.tp.0000575616.17907.87
https://doi.org/10.1097/01.tp.0000575616.17907.87
Autor:
Ezzat Elsobky, Tawhida Y. Abdel-Ghaffar, Solaf M. Elsayed, Hartmut H.-J. Schmidt, Janine Büttner, Bettina Bochow
Publikováno v:
Journal of Human Genetics. 53:681-687
The aim of this work was to study the mutations within ATP7B in Egyptian children with Wilson disease and to evaluate any potential correlation between genotype and phenotype in this cohort. The study consisted of 48 children with Wilson disease from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ac4b9ba3617de31d34bf0921e75c656
https://doi.org/10.1007/s10038-008-0298-7
https://doi.org/10.1007/s10038-008-0298-7
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:
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:
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:
Renita Weltrich, Ferenc Nagy, Bettina Bochow, Herbert Lochs, Janine Genschel, Hartmut H.-J. Schmidt, Carsten Büning, János Lonovics, T Molnár
Publikováno v:
World journal of gastroenterology. 11(3)
AIM: To analyse the impact of NOD2/CARD15 mutations on the clinical course of Crohn’s disease patients from an eastern European country (Hungary). METHODS: We investigated the prevalence of the three common NOD2/CARD15 mutations (Arg702Trp, Gly908A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d8fa265bb2bd48ff306302926bc3cb5
https://pubmed.ncbi.nlm.nih.gov/15637755
https://pubmed.ncbi.nlm.nih.gov/15637755
Autor:
Gilda Porta, Eduardo Luiz Rachid Cançado, Herbert Lochs, Egberto Reis Barbosa, Bettina Bochow, Hartmut H.-J. Schmidt, Marta Mitiko Deguti, Marcos Mucenic, Janine Genschel, Flair José Carrilho
Publikováno v:
Human mutation. 23(4)
Wilson disease (WD) is a rare inherited autosomal recessive disorder caused by a defect in a metal transporting P-type ATPase, resulting in copper overload in various tissues and cells. The aim was to assess both the phenotype in Brazilian WD patient
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c990de35b0ef6986ed003349747686c3
https://pubmed.ncbi.nlm.nih.gov/15024742
https://pubmed.ncbi.nlm.nih.gov/15024742
Autor:
Anja Vogt, George Dedoussis, Christos Pitsavos, Sodnomtsogt Lkhagvasuren, Bettina Bochow, Ursula Kassner, Margarita Prassa, Janine Genschel, Hartmut H.-J. Schmidt, John Skoumas, Hans-P. Thomas, Pavlos Toutouzas
Publikováno v:
Human Mutation. 23:285-286
We used the denaturing gradient gel electrophoresis (DGGE) method to define mutations in the promoter region, the 18 exons, and their flanking intronic sequences of the low-density lipoprotein (LDL) receptor gene LDLR, causing familial hypercholester
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b54274fad64c155e604128c8514bf352
https://doi.org/10.1002/humu.9218
https://doi.org/10.1002/humu.9218