المؤلفون: Syvänen Ann-Christine, Olsen Anja, Tjønneland Anne, Koed Karen, Wiuf Carsten, Wikman Friedrik P, Madsen Bo E, Christensen Lise, Andersen Claus L, Ørntoft Torben F

المصدر: BMC Medical Genetics, Vol 9, Iss 1, p 52 (2008)

مصطلحات موضوعية: Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.biomedcentral.com/1471-2350/9/52; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/b1546d9cc8e542579b4be71aec4aa841

المؤلفون: Nyegaard, Mette, Rendtorff, Nanna D., Nielsen, Morten S., Corydon, Thomas J., Demontis, Ditte, Starnawska, Anna, Hedemand, Anne, Buniello, Annalisa, Niola, Francesco, Overgaard, Michael T., Leal, Suzanne M., Ahmad, Wasim, Wikman, Friedrik P., Petersen, Kirsten B., Crüger, Dorthe G., Oostrik, Jaap, Kremer, Hannie, Tommerup, Niels, Frödin, Morten, Steel, Karen P., Tranebjærg, Lisbeth, Børglum, Anders D.

المصدر: Nyegaard , M , Rendtorff , N D , Nielsen , M S , Corydon , T J , Demontis , D , Starnawska , A , Hedemand , A , Buniello , A , Niola , F , Overgaard , M T , Leal , S M , Ahmad , W , Wikman , F P , Petersen , K B , Crüger , D G , Oostrik , J , Kremer , H , Tommerup , N , Frödin , M , Steel , K P , Tranebjærg , L & Børglum , A D 2015 , ....

الاتاحة: https://kclpure.kcl.ac.uk/portal/en/publications/d0688a5e-e791-407d-9d58-352f14ad891f
https://doi.org/10.1371/journal.pgen.1005386
http://www.scopus.com/inward/record.url?scp=84938775191&partnerID=8YFLogxK

المؤلفون: Christensen, Lise, Madsen, Bo E, Wikman, Friedrik P, Wiuf, Carsten, Koed, Karen, Tjønneland, Anne, Olsen, Anja, Syvänen, Ann-Christine, Andersen, Claus L, Ørntoft, Torben F

Relation: http://www.biomedcentral.com/1471-2350/9/52

الاتاحة: http://www.biomedcentral.com/1471-2350/9/52

المؤلفون: Lamy, Philippe, Andersen, Claus L., Wikman, Friedrik P., Wiuf, Carsten

مصطلحات موضوعية: Methods Online

وصف الملف: text/html

Relation: http://nar.oxfordjournals.org/cgi/content/short/gkl475v1; http://dx.doi.org/10.1093/nar/gkl475

الاتاحة: http://nar.oxfordjournals.org/cgi/content/short/gkl475v1
https://doi.org/10.1093/nar/gkl475

المؤلفون: Primdahl, Hanne, Wikman, Friedrik P., von der Maase, Hans, Zhou, Xiao-ge, Wolf, Hans, Ørntoft, Torben F.

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

Relation: http://jnci.oxfordjournals.org/cgi/content/short/94/3/216; http://dx.doi.org/10.1093/jnci/94.3.216

الاتاحة: http://jnci.oxfordjournals.org/cgi/content/short/94/3/216
https://doi.org/10.1093/jnci/94.3.216

المؤلفون: Wikman, Friedrik P, Lu, Ming-Lan, Thykjaer, Thomas, Olesen, Sanne H, Andersen, Lars D, Cordon-Cardo, Carlos, Ørntoft, Torben F

المصدر: Clinical Chemistry ; volume 46, issue 10, page 1555-1561 ; ISSN 0009-9147 1530-8561

الاتاحة: http://dx.doi.org/10.1093/clinchem/46.10.1555
http://academic.oup.com/clinchem/article-pdf/46/10/1555/32728581/clinchem1555.pdf

المؤلفون: Okkels, Henrik, Lagerstedt-Robinsson, Kristina, Wikman, Friedrik P., Hansen, Thomas V.O., Lolas, Ihab, Lindberg, Lars Joachim, Krarup, Henrik B.

المصدر: Okkels , H , Lagerstedt-Robinsson , K , Wikman , F P , Hansen , T V O , Lolas , I , Lindberg , L J & Krarup , H B 2019 , ' Detection of PMS2 Mutations by Screening Hereditary Nonpolyposis Colon Cancer Families from Denmark and Sweden ' , Genetic Testing and Molecular Biomarkers , vol. 23 , no. 9 , pp. 688-695 . https://doi.org/10.1089/gtmb.2018.0316

مصطلحات موضوعية: HNPCC, long-range PCR, Lynch syndrome, pathogenic variants, PMS2

الاتاحة: https://pure.au.dk/portal/da/publications/detection-of-pms2-mutations-by-screening-hereditary-nonpolyposis-colon-cancer-families-from-denmark-and-sweden(663267d9-9af1-4a61-a984-d8c40fd6d4ee).html
https://doi.org/10.1089/gtmb.2018.0316
http://www.scopus.com/inward/record.url?scp=85072234290&partnerID=8YFLogxK

المؤلفون: Rasmussen, Nils-Jørgen, Wikman, Friedrik P., Clark, B.F.C.

مصطلحات موضوعية: MOLECULAR BIOLOGY

وصف الملف: text/html

Relation: http://nar.oxfordjournals.org/cgi/content/short/18/16/4883; http://dx.doi.org/10.1093/nar/18.16.4883

الاتاحة: http://nar.oxfordjournals.org/cgi/content/short/18/16/4883
https://doi.org/10.1093/nar/18.16.4883

المؤلفون: Bernstein, Inge Thomsen, Larsen, K.L., Timshel, Susanne, Brandt, Carsten, Dinesen, Birger, Fenger, Mogens, Gerdes, Anne-Marie Axø, Iversen, Lene H, Madsen, Mogens R, Okkels, Henrik, Sunde, Lone, Rahr, Hans B, Wikman, Friedrik P, Rossing, Niels

المصدر: Bernstein , I T , Larsen , K L , Timshel , S , Brandt , C , Dinesen , B , Fenger , M , Gerdes , A-M A , Iversen , L H , Madsen , M R , Okkels , H , Sunde , L , Rahr , H B , Wikman , F P & Rossing , N 2011 , ' Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system ' , Human Mutation , vol. 32 , no. 5 , pp. 551-6 . https://doi.org/10.1002/humu.21435

مصطلحات موضوعية: Colorectal Neoplasms, Hereditary Nonpolyposis, Computational Biology, Delivery of Health Care, Denmark, Humans, Medical Informatics Applications, Registries, Software

الاتاحة: https://pure.au.dk/portal/da/publications/biomedical-informatics-as-support-to-individual-healthcare-in-hereditary-colon-cancer-the-danish-hnpcc-system(292967c3-d33b-4bde-a589-69233cb582af).html
https://doi.org/10.1002/humu.21435

المؤلفون: Out, Astrid A., Tops, Carli M. J., Nielsen, Maartje, Weiss, Marjan M., van Minderhout, Ivonne J.H.M., Fokkema, Ivo F. A. C., Buisine, Marie-Pierre, Claes, Kathleen, Colas, Chrystelle, Fodde, Riccardo, Fostira, Florentia, Franken, Patrick F., Gaustadnes, Mette, Heinimann, Karl, Hodgson, Shirley V., Hogervorst, Frans B. L., Holinski-Feder, Elke, Lagerstedt-Robinson, Kristina, Olschwang, Sylviane, Ans M.W., van den Ouweland, Redeker, Egbert J. W., Scott, Rodney J., Vankeirsbilck, Bruno, Grønlund, Rikke Veggerby, Wijnen, Juul T., Wikman, Friedrik P., Aretz, Stefan, Sampson, Julian Roy, Devilee, Peter, den Dunnen, Johan T., Hes, Frederik J.

مصطلحات موضوعية: QH426 Genetics

Relation: Out, Astrid A., Tops, Carli M. J., Nielsen, Maartje, Weiss, Marjan M., van Minderhout, Ivonne J.H.M., Fokkema, Ivo F. A. C., Buisine, Marie-Pierre, Claes, Kathleen, Colas, Chrystelle, Fodde, Riccardo, Fostira, Florentia, Franken, Patrick F., Gaustadnes, Mette, Heinimann, Karl, Hodgson, Shirley V., Hogervorst, Frans B. L., Holinski-Feder, Elke, Lagerstedt-Robinson, Kristina, Olschwang, Sylviane, Ans M.W., van den Ouweland, Redeker, Egbert J. W., Scott, Rodney J., Vankeirsbilck, Bruno, Grønlund, Rikke Veggerby, Wijnen, Juul T., Wikman, Friedrik P., Aretz, Stefan, Sampson, Julian Roy https://orca.cardiff.ac.uk/view/cardiffauthors/A0160820.html orcid:0000-0002-2902-2348 orcid:0000-0002-2902-2348, Devilee, Peter, den Dunnen, Johan T. and Hes, Frederik J. 2010. Leiden open variation database of the MUTYH gene. Human Mutation 31 (11) , pp. 1205-1215. 10.1002/humu.21343 https://doi.org/10.1002/humu.21343

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/22801/
https://doi.org/10.1002/humu.21343

المؤلفون: Christensen, Lise Lotte, Kariola, Reetta, Korhonen, Mari K, Wikman, Friedrik P, Sunde, Lone, Gerdes, Anne-Marie Axø, Okkels, Henrik, Brandt, Carsten, Bernstein, Inge Thomsen, Hansen, Thomas v O, Hagemann-Madsen, Rikke, Andersen, Claus L, Nyström, Minna, Ørntoft, Torben F

المصدر: Christensen , L L , Kariola , R , Korhonen , M K , Wikman , F P , Sunde , L , Gerdes , A-M A , Okkels , H , Brandt , C , Bernstein , I T , Hansen , T V O , Hagemann-Madsen , R , Andersen , C L , Nyström , M & Ørntoft , T F 2009 , ' Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients ' , Familial Cancer , vol. 8 , no. 4 , pp. 489-500 . https://doi.org/10.1007/s10689-009-9274-4

مصطلحات موضوعية: Adaptor Proteins, Signal Transducing, Adult, Blotting, Western, Colorectal Neoplasms, Denmark, Female, Humans, Male, Middle Aged, MutS Homolog 2 Protein, Mutagenesis, Site-Directed, Mutation, Missense, Nuclear Proteins, Pedigree

الاتاحة: https://pure.au.dk/portal/da/publications/functional-characterization-of-rare-missense-mutations-in-mlh1-and-msh2-identified-in-danish-colorectal-cancer-patients(d53f07bd-a3be-4a1d-af5c-4e42a859adec).html
https://doi.org/10.1007/s10689-009-9274-4

المؤلفون: Nilbert, Mef, Wikman, Friedrik P, Hansen, Thomas V O, Krarup, Henrik B, Orntoft, Torben F, Nielsen, Finn C, Sunde, Lone, Gerdes, Anne-Marie, Cruger, Dorthe, Timshel, Susanne, Bisgaard, Søs Marie Luise, Bernstein, Inge, Okkels, Henrik, Wikman, Friedrik, Hansen, Thomas, Krarup, Henrik, Orntoft, Torben, Nielsen, Finn, Bisgaard, Marie-Louise

المصدر: Nilbert , M , Wikman , F P , Hansen , T V O , Krarup , H B , Orntoft , T F , Nielsen , F C , Sunde , L , Gerdes , A-M , Cruger , D , Timshel , S , Bisgaard , S M L , Bernstein , I , Okkels , H , Nilbert , M , Wikman , F , Hansen , T , Krarup , H , Orntoft , T , Nielsen , F , Sunde , L , Gerdes , A-M , Cruger , D , Timshel , S ....

الاتاحة: https://researchprofiles.ku.dk/da/publications/major-contribution-from-recurrent-alterations-and-msh6-mutations-in-the-danish-lynch-syndrome-population(ba757000-d03b-11de-a1f3-000ea68e967b).html
https://doi.org/10.1007/s10689-008-9199-3

المؤلفون: Ripa, Rasmus S., Katballe, Niels, Wikman, Friedrik P., Jäger, Anne Charlotte, Bernstein, Inge, Ørntoft, Torben, Schwartz, Marianne, Nielsen, Finn Cilius, Bisgaard, Marie Luise

المصدر: Ripa , R S , Katballe , N , Wikman , F P , Jäger , A C , Bernstein , I , Ørntoft , T , Schwartz , M , Nielsen , F C & Bisgaard , M L 2005 , ' Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer ' , Mutation Research - Reviews , vol. 570 , no. 1 , pp. 89-96 . < http://www.sciencedirect.com/science?_ob=MImg&_imagekey=B6T2C-4DXTHRY-2-1&_cdi=4915&_user=641710&_orig=browse&_coverDate=02%2F15%2F2005&_sk=994299998&view=c&wchp=dGLzVlz-zSkWA&md5=849d1040e490dfa103b24334848267ab&ie=/sdarticle.pdf >

الاتاحة: https://curis.ku.dk/portal/da/publications/presymptomatic-diagnosis-using-a-deletion-of-a-single-codon-in-families-with-hereditary-nonpolyposis-colorectal-cancer(8231d430-74c3-11db-bee9-02004c4f4f50).html
http://www.sciencedirect.com/science?_ob=MImg&_imagekey=B6T2C-4DXTHRY-2-1&_cdi=4915&_user=641710&_orig=browse&_coverDate=02%2F15%2F2005&_sk=994299998&view=c&wchp=dGLzVlz-zSkWA&md5=849d1040e490dfa103b24334848267ab&ie=/sdarticle.pdf

المؤلفون: Wikman, Friedrik P., Katballe, Niels, Christensen, Mariann, Laurberg, Søren, Ørntoft, Torben F.

المصدر: Genetic Testing ; volume 4, issue 1, page 15-21 ; ISSN 1090-6576 1557-7473

الاتاحة: http://dx.doi.org/10.1089/109065700316426
http://www.liebertpub.com/doi/pdf/10.1089/109065700316426

المؤلفون: JØRGENSEN, Tony, SIBOSKA, Gunhild E., WIKMAN, Friedrik P., CLARK, Brian F. C.

المصدر: European Journal of Biochemistry ; volume 153, issue 1, page 203-209 ; ISSN 0014-2956 1432-1033

الاتاحة: http://dx.doi.org/10.1111/j.1432-1033.1985.tb09287.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1432-1033.1985.tb09287.x
https://febs.onlinelibrary.wiley.com/doi/pdf/10.1111/j.1432-1033.1985.tb09287.x

المؤلفون: Christensen, Lise Lotte, Madsen, Bo E., Wikman, Friedrik P., Wiuf, Carsten, Koed, Karen, Tjønneland, Anne, Olsen, Anja, Syvänen, Ann-Christine, Andersen, Claus L., Örntoft, Torben F.

مصطلحات الفهرس: Medical and Health Sciences, Medicin och hälsovetenskap, Article in journal, info:eu-repo/semantics/article, text

URL: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-103498
BMC Medical Genetics, 2008, 9, s. 52

المؤلفون: Primadahl, Hanne, Wikman, Friedrik P., von der Maase, Hans, Xiao-ge Zhou, Wolf, Hans, Ørntoft, Torben F.

المصدر: JNCI: Journal of the National Cancer Institute. 02/06/2002, Vol. 94 Issue 3, p216. 8p. 4 Diagrams, 2 Charts.

مصطلحات موضوعية: *CHROMOSOME analysis, *BLADDER cancer

المؤلفون: Christensen, Mariann, Katballe, Niels, Wikman, Friedrik, Primdahl, Hanne, Sørensen, Flemming B., Laurberg, Søren, Ørntoft, Torben F.

المصدر: Cancer; 1 December 2002, Vol. 95 Issue: 11 p2422-2430, 9p

المؤلفون: Spicker, Jeppe S, Wikman, Friedrik, Lu, Ming-Lan, Cordon-Cardo, Carlos, Workman, Christopher, ØRntoft, Torben F, Brunak, Søren, Knudsen, Steen

المصدر: Bioinformatics; August 2002, Vol. 18 Issue: 8 p1133-1134, 2p