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pro vyhledávání: '"Liss Anne Solberg Lavik"'
Autor:
Ashish Kumar Singh, Maren Fridtjofsen Olsen, Liss Anne Solberg Lavik, Trine Vold, Finn Drabløs, Wenche Sjursen
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
Abstract Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. However, CNV detectio
Externí odkaz:
https://doaj.org/article/84d201fa49674f48a6b546f71115b19b
Autor:
Ashish Kumar Singh, Bente Talseth-Palmer, Mary McPhillips, Liss Anne Solberg Lavik, Alexandre Xavier, Finn Drabløs, Wenche Sjursen
Publikováno v:
PLoS ONE, Vol 15, Iss 7, p e0235613 (2020)
Germline variants inactivating the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause Lynch syndrome that implies an increased cancer risk, where colon and endometrial cancer are the most frequent. Identification of these pathogenic variants
Externí odkaz:
https://doaj.org/article/9a8406190f7b400fa9ed6324be034dce
Autor:
Wenche Sjursen, Trine Vold, Maren Fridtjofsen Olsen, Ashish Kumar Singh, Finn Drabløs, Liss Anne Solberg Lavik
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-12 (2021)
BMC Medical Genomics
BMC Medical Genomics
Background Detection of copy number variation (CNV) in genes associated with disease is important in genetic diagnostics, and next generation sequencing (NGS) technology provides data that can be used for CNV detection. However, CNV detection based o
Autor:
Liss Anne Solberg Lavik, Alexandre Xavier, Wenche Sjursen, Ashish Kumar Singh, Mary McPhillips, Bente A. Talseth-Palmer, Finn Drabløs
Publikováno v:
PLoS ONE
PLOS ONE
PLoS ONE, Vol 15, Iss 7, p e0235613 (2020)
PLOS ONE
PLoS ONE, Vol 15, Iss 7, p e0235613 (2020)
Germline variants inactivating the mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2 cause Lynch syndrome that implies an increased cancer risk, where colon and endometrial cancer are the most frequent. Identification of these pathogenic variants
Autor:
M. Hansen, Liss Anne Solberg Lavik, Wenche Sjursen, Bodil Gilde, Trine Vold, Ragnhild Karlgård Toft, Ulrike Neckmann
Publikováno v:
Molecular Genetics & Genomic Medicine
The purpose of this study was to develop a massive parallel sequencing (MPS) workflow for diagnostic analysis of mismatch repair (MMR) genes using the GS Junior system (Roche). A pathogenic variant in one of four MMR genes, (MLH1, PMS2, MSH6, and MSH
Autor:
Lars Fredrik Engebretsen, Wenche Sjursen, Christoffer Jonsrud, Inger Marie Bowitz-Lothe, Inga Bjørnevoll, Bodil Gilde, Sarah Ariansen, Astrid Stormorken, Bjørn Ivar Haukanes, Lovise Maehle, Per Arne Andresen, Eli Marie Grindedal, Harald Aarset, Pål Møller, Liss Anne Solberg Lavik
Publikováno v:
Journal of Medical Genetics
Background: Reported prevalence, penetrance and expression of deleterious mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6 and PMS2, may reflect differences in the clinical criteria used to select families for DNA testing. The authors h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c4ea0cfce473ee001800bee3cb54e3e
https://hdl.handle.net/1956/4503
https://hdl.handle.net/1956/4503