المؤلفون: Byrjalsen, Anna, Steffensen, Ane Y, Hansen, Thomas V O, Wadt, Karin, Gerdes, Anne-Marie

المصدر: Byrjalsen , A , Steffensen , A Y , Hansen , T V O , Wadt , K & Gerdes , A-M 2017 , ' Classification of the spliceogenic BRAC1 c.4096+3A >G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier ' , Clinical Case Reports , vol. 5 , no. 6 , pp. 876-879 . https://doi.org/10.1002/ccr3.944Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1002/ccr3.944Test
https://curis.ku.dk/portal/da/publications/classification-of-the-spliceogenic-brac1-c40963ag-variant-as-likely-benign-based-on-cosegregation-data-and-identification-of-a-healthy-homozygous-carrierTest(69390f9f-2782-462b-a497-92a069da0e2d).html
https://curis.ku.dk/ws/files/196371491/Byrjalsen_et_al_2017_Clinical_Case_Reports.pdfTest

المؤلفون: Ahlborn, Lise B, Dandanell, Mette, Steffensen, Ane Y, Jønson, Lars, Nielsen, Finn C, Hansen, Thomas V O

المصدر: Ahlborn , L B , Dandanell , M , Steffensen , A Y , Jønson , L , Nielsen , F C & Hansen , T V O 2015 , ' Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic ' , Breast Cancer Research and Treatment , vol. 150 , no. 2 , pp. 289-98 . https://doi.org/10.1007/s10549-015-3313-7Test

مصطلحات موضوعية: BRCA1 Protein, Base Sequence, Breast Neoplasms, DNA Mutational Analysis, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Testing, Germ-Line Mutation, Humans, Mutation, Missense, RNA Splicing

الإتاحة: https://doi.org/10.1007/s10549-015-3313-7Test
https://curis.ku.dk/portal/da/publications/splicing-analysis-of-14-brca1-missense-variants-classifies-nine-variants-as-pathogenicTest(2ca598b3-f299-4d50-8dc5-d709dc23b83c).html

المؤلفون: Steffensen, Ane Y, Dandanell, Mette, Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C, Hansen, Thomas vO

المصدر: European Journal of Human Genetics ; volume 22, issue 12, page 1362-1368 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/ejhg.2014.40Test
http://www.nature.com/articles/ejhg201440.pdfTest
http://www.nature.com/articles/ejhg201440Test

المؤلفون: Hansen, Thomas V. O., Jønson, Lars, Albrechtsen, Anders, Steffensen, Ane Y., Bergsten, Eva, Myrhøj, Torben, Ejlertsen, Bent, Nielsen, Finn C.

المساهمون: Department of Clinical Biochemistry Rigshospitalet, Rigshospitalet Copenhagen, Copenhagen University Hospital-Copenhagen University Hospital, Section of Biostatistics Copenhagen, Department of Public Health Copenhagen, Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH)-Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH), Department of Oncology, Department of Surgery, Dronning Ingrids Hospital

المصدر: ISSN: 0167-6806.

مصطلحات موضوعية: Greenland, Inuit, Novel mutation

العلاقة: hal-00531008; https://hal.science/hal-00531008Test; https://hal.science/hal-00531008/documentTest; https://hal.science/hal-00531008/file/PEER_stage2_10.1007%252Fs10549-010-0909-9.pdfTest

الإتاحة: https://doi.org/10.1007/s10549-010-0909-9Test
https://hal.science/hal-00531008Test
https://hal.science/hal-00531008/documentTest
https://hal.science/hal-00531008/file/PEER_stage2_10.1007%252Fs10549-010-0909-9.pdfTest

المؤلفون: Jønson, Lars, Ahlborn, Lise B, Steffensen, Ane Y, Djursby, Malene, Ejlertsen, Bent, Timshel, Susanne, Nielsen, Finn C, Gerdes, Anne-Marie, Hansen, Thomas V. O.

المصدر: Jønson , L , Ahlborn , L B , Steffensen , A Y , Djursby , M , Ejlertsen , B , Timshel , S , Nielsen , F C , Gerdes , A-M & Hansen , T V O 2016 , ' Identification of six pathogenic RAD51C mutations via mutational screening of 1228 Danish individuals with increased risk of hereditary breast and/or ovarian cancer ' , Breast Cancer Research and Treatment , vol. 155 , no. 2 , pp. 215-22 . https://doi.org/10.1007/s10549-015-3674Test-y

مصطلحات موضوعية: Journal Article

الإتاحة: https://doi.org/10.1007/s10549-015-3674Test-y
https://curis.ku.dk/portal/da/publications/identification-of-six-pathogenic-rad51c-mutations-via-mutational-screening-of-1228-danish-individuals-with-increased-risk-of-hereditary-breast-andor-ovarian-cancerTest(39ee2832-83f3-4194-8978-b806cedde589).html

المؤلفون: Ahlborn, Lise B, Steffensen, Ane Y, Jønson, Lars, Djursby, Malene, Nielsen, Finn C, Gerdes, Anne-Marie, Hansen, Thomas V O

المصدر: Ahlborn , L B , Steffensen , A Y , Jønson , L , Djursby , M , Nielsen , F C , Gerdes , A-M & Hansen , T V O 2015 , ' Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations ' , Familial Cancer , vol. 14 , no. 1 , pp. 129-133 . https://doi.org/10.1007/s10689-014-9747Test-y

الإتاحة: https://doi.org/10.1007/s10689-014-9747Test-y
https://curis.ku.dk/portal/da/publications/identification-of-a-breast-cancer-family-double-heterozygote-for-rad51c-and-brca2-gene-mutationsTest(ad5f3b4d-facb-4202-aae6-3255cbd395a3).html

المؤلفون: Ahlborn, Lise B., Steffensen, Ane Y., Jønson, Lars, Djursby, Malene, Nielsen, Finn C., Gerdes, Anne-Marie, Hansen, Thomas V. O.

المصدر: Familial Cancer ; volume 14, issue 1, page 129-133 ; ISSN 1389-9600 1573-7292

مصطلحات موضوعية: Cancer Research, Genetics (clinical), Oncology, Genetics

الإتاحة: https://doi.org/10.1007/s10689-014-9747Test-y

المؤلفون: Thomassen, Mads, Blanco, Ana, Montagna, Marco, Hansen, Thomas V. O., Pedersen, Inge S., Gutierrez-Enriquez, Sara, Menendez, Mireia, Fachal, Laura, Santamarina, Marta, Steffensen, Ane Y., Jønson, Lars, Agata, Simona, Whiley, Phillip, Tognazzo, Silvia, Tornero, Eva, Jensen, Uffe B., Balmana, Judith, Kruse, Torben A., Goldgar, David E., Lazaro, Conxi, Diez, Orland, Spurdle, Amanda B., Vega, Ana

مصطلحات موضوعية: Cancer Research, Oncology

الإتاحة: https://doi.org/10.1007/s10549-011-1674-0Test
https://espace.library.uq.edu.au/view/UQ:263898Test

المؤلفون: Hansen, Thomas V O, Jønson, Lars, Steffensen, Ane Y, Andersen, Mette K, Kjaergaard, Susanne, Gerdes, Anne-Marie, Ejlertsen, Bent, Nielsen, Finn C

المصدر: Hansen , T V O , Jønson , L , Steffensen , A Y , Andersen , M K , Kjaergaard , S , Gerdes , A-M , Ejlertsen , B & Nielsen , F C 2011 , ' Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations ' , Familial Cancer , vol. 10 , no. 2 , pp. 207-12 . https://doi.org/10.1007/s10689-011-9422-5Test

الإتاحة: https://doi.org/10.1007/s10689-011-9422-5Test
https://curis.ku.dk/portal/da/publications/screening-of-1331-danish-breast-andor-ovarian-cancer-families-identified-40-novel-brca1-and-brca2-mutationsTest(e8f7d478-5892-43bd-9dbe-504dc7325048).html

المؤلفون: Thomassen, Mads, Blanco, Ana, Montagna, Marco, Hansen, Thomas V. O., Pedersen, Inge S., Gutiérrez-Enríquez, Sara, Menéndez, Mireia, Fachal, Laura, Santamariña, Marta, Steffensen, Ane Y., Jønson, Lars, Agata, Simona, Whiley, Phillip, Tognazzo, Silvia, Tornero, Eva, Jensen, Uffe B., Balmaña, Judith, Kruse, Torben A., Goldgar, David E., Lázaro, Conxi, Diez, Orland, Spurdle, Amanda B., Vega, Ana

المصدر: Breast Cancer Research and Treatment ; volume 132, issue 3, page 1009-1023 ; ISSN 0167-6806 1573-7217

مصطلحات موضوعية: Cancer Research, Oncology

الإتاحة: https://doi.org/10.1007/s10549-011-1674-0Test