Výsledky vyhledávání

Whole Genome Amplification on DNA from Filter Paper Blood Spot Samples: An Evaluation of Selected Systems

Autor: Bent Nørgaard-Pedersen, Cathrine Jespersgaard, Jens Vuust, David M. Hougaard, Karina Meden Sørensen, Paal Skytt Andersen

Publikováno v: Genetic Testing. 11:65-71

As the number of single-nucleotide polymorphism (SNP) screening and other mutation scanning studies have increased explosively, following the development of high-throughput instrumentation, it becomes even more important to have sufficient template D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfc9d9d64eb024820a2fc13bbf03ed08
https://doi.org/10.1089/gte.2006.0503

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P53 mutations in tissue from Danish ovarian cancer patients

Autor: Eva Glud, Claus Høgdall, Jan Blaakær, Estrid Høgdall, Jens Vuust, Susanne K. Kjaer, Lise Christensen

Publikováno v: Gynecologic Oncology. 100:76-82

Objectives. The p 53 gene, a tumor suppressor gene located on the short arm of chromosome 17 (17p13), has been found mutated in 30–80% of epithelial ovarian cancers (OC), with the most frequently detected mutations in the conserved regions of the g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::cc36235ff8aa94b9f628c4751e6a30d5
https://doi.org/10.1016/j.ygyno.2005.07.131

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Adverse reactions following injection with a permanent facial filler polyacrylamide hydrogel (Aquamid): causes and treatment

Autor: Vibeke Breiting, Jens Vuust, Estrid Høgdall, Lise Christensen

Publikováno v: European Journal of Plastic Surgery. 28:464-471

Polyacrylamide hydrogel (Aquamid), an atoxic non-immunogenic gel of the non-resorbable type, has gained widespread popularity as an injectable filler for facial augmentation. However, adverse events (AEs) have occurred, the nature of which seems obsc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ce730ff4c21da471efb030f0122ef889
https://doi.org/10.1007/s00238-005-0005-2

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Potassium Must Be Considered in Congenital Long QT Syndrome

Autor: Michael Christiansen, Jørgen K. Kanters, Paal Skytt Andersen, Lennart Lundkvist, Göran Wettrell, Keld Kjeldsen, Lars Allan Larsen, Jens Vuust, Cao T. Tran

Publikováno v: Heart Drug. 5:54-58

Background: Congenital long QT syndrome (cLQTS), characterized by prolonged QTc time, syncope or sudden death caused by torsade de pointes ventricular tachycardia, has an autosomal dominant pattern of inheritance and is caused by mutations in genes c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b99fb595b2425852a6d7061b966573d8
https://doi.org/10.1159/000083388

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One third of Danish hypertrophic cardiomyopathy patients have mutations in MYH7 rod region

Autor: Ole Havndrup, Jens Vuust, Lotte Hougs, Michael Christiansen, Lars Allan Larsen, Paal Skytt Andersen, Henning Bundgaard, Lars Køber

Publikováno v: European Journal of Human Genetics. 13:161-165

Familial hypertrophic cardiomyopathy (FHC) is, in most cases, a disease of the sarcomere, caused by a mutation in one of 10 known sarcomere disease genes. More than 266 mutations have been identified since 1989. The FHC disease gene first characteriz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c81bcc726b5d4bc614621b7c582f7330
https://doi.org/10.1038/sj.ejhg.5201310

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Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency

Autor: Anders K Pedersen, Henning Bundgaard, Michael Christiansen, Paal Skytt Andersen, Keld Kjeldsen, Lars Allan Larsen, Ole Havndrup, Jens Vuust

Publikováno v: European Journal of Human Genetics. 12:673-677

Mutations in the MYBPC3 gene, encoding the sarcomere protein myosin-binding protein C, are among the most frequent causes of autosomal dominant familial hypertrophic cardiomyopathy (FHC). We studied the frequency, type, and pathogenetic mechanism of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::236c12baa48e908ceb53af5525f058b3
https://doi.org/10.1038/sj.ejhg.5201190

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Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening

Autor: Michael Christiansen, Lars Allan Larsen, Paal Skytt Andersen, Jens Vuust, Cathrine Jespersgaard

Publikováno v: Human Mutation. 21:455-465

The generation of the draft human genome sequence has created new possibilities for diagnosis, prevention, and treatment of human disease. One consequence of these new possibilities is an increasing need for methods and technology that can be used fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9554d2f44d1b9f8243b7c84108ce976
https://doi.org/10.1002/humu.10169

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K-ras alterations in Danish ovarian tumour patients

Autor: Estrid Høgdall, Jan Blaakær, Claus Høgdall, Eva Glud, Johannes E. Bock, Jens Vuust, Susanne K. Kjaer, Lise Christensen

Publikováno v: Gynecologic Oncology. 89:31-36

Objective Activation of ras oncogenes has been demonstrated in ovarian tumours. All the reported studies are based on a relatively small number of patients and the results therefore remain a subject of debate. Methods In this study, we analyzed the p

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a2cabebfc98b55e6d19c2a357bbf3aeb
https://doi.org/10.1016/s0090-8258(03)00005-2

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High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method

Autor: Paal Skytt Andersen, Jens Vuust, Cathrine Jespersgaard, Lars Allan Larsen, Michael Christiansen

Publikováno v: Human Mutation. 21:116-122

Capillary array electrophoresis (CAE) is a novel technique, which allows for high throughput analysis of DNA fragments. When screening for mutations in whole populations or large patient groups it is necessary to have robust and well-characterized se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90b7bec31e1bd59e0e1bc8f661bf0488
https://doi.org/10.1002/humu.10161

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Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac β-myosin gene mutations

Autor: Henning Bundgaard, Paal Skytt Andersen, Ole Havndrup, Lars Allan Larsen, Michael Christiansen, Jens Vuust, Keld Kjeldsen

Publikováno v: Cardiovascular Research. 57:347-357

Objective: Familial hypertrophic cardiomyopathy (FHC) is caused by mutations in genes encoding cardiac sarcomere proteins. Although available, genetic analyses are generally not used clinically. In the present study, we evaluated the outcome of clini

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14d0baa63438342070362b8ac3e60393
https://doi.org/10.1016/s0008-6363(02)00711-3

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