المؤلفون: Spaanderman, Ide T., Peters, Fleur S., Jongejan, Aldo, Redeker, Egbert J. W., Punt, Cornelis J. A., Bins, Adriaan D.

المساهمون: Gao, Jianjiong, KWF Kankerbestrijding

المصدر: PLOS ONE ; volume 16, issue 6, page e0251630 ; ISSN 1932-6203

الإتاحة: https://doi.org/10.1371/journal.pone.0251630Test

المؤلفون: ten Broeke, Sanne W., van der Klift, Heleen M., Tops, Carli M. J., Aretz, Stefan, Bernstein, Inge, Buchanan, Daniel D., de la Chapelle, Albert, Capella, Gabriel, Clendenning, Mark, Engel, Christoph, Gallinger, Steven, Gomez Garcia, Encarna, Figueiredo, Jane C., Haile, Robert, Hampel, Heather L., Hopper, John L., Hoogerbrugge, Nicoline, Doeberitz, Magnus von Knebel, Le Marchand, Loic, Letteboer, Tom G. W., Jenkins, Mark A., Lindblom, Annika, Lindor, Noralane M., Mensenkamp, Arjen R., Moller, Pal, Newcomb, Polly A., van Os, Theo A. M., Pearlman, Rachel, Pineda, Marta, Rahner, Nils, Redeker, Egbert J. W., Olderode-Berends, Maran J. W., Rosty, Christophe, Schackert, Hans K., Scott, Rodney, Senter, Leigha, Spruijt, Liesbeth, Steinke-Lange, Verena, Suerink, Manon, Thibodeau, Stephen, Vos, Yvonne J., Wagner, Anja, Winship, Ingrid, Hes, Frederik J., Vasen, Hans F. A., Wijnen, Juul T., Nielsen, Maartje, Win, Aung Ko

المصدر: ten Broeke , S W , van der Klift , H M , Tops , C M J , Aretz , S , Bernstein , I , Buchanan , D D , de la Chapelle , A , Capella , G , Clendenning , M , Engel , C , Gallinger , S , Gomez Garcia , E , Figueiredo , J C , Haile , R , Hampel , H L , Hopper , J L , Hoogerbrugge , N , Doeberitz , M V K , Le Marchand , L , Letteboer , T G W , ....

مصطلحات موضوعية: NONPOLYPOSIS COLORECTAL-CANCER, HEREDITARY BREAST, ENDOMETRIAL CANCER, FAMILY-HISTORY, MUTATIONS, MLH1, PREVALENCE, VARIANTS, CARRIERS, GENES

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/7c4d5269-0b40-47ef-a997-5c42ca2358e9Test

الإتاحة: https://doi.org/10.1200/JCO.2018.78.4777Test
https://hdl.handle.net/11370/7c4d5269-0b40-47ef-a997-5c42ca2358e9Test
https://research.rug.nl/en/publications/7c4d5269-0b40-47ef-a997-5c42ca2358e9Test
https://pure.rug.nl/ws/files/76325791/jco.2018.78.4777.pdfTest

المؤلفون: Dommering, Charlotte J, Henneman, Lidewij, van der Hout, Annemarie H, Jonker, Marianne A, Tops, Carli M J, van den Ouweland, Ans M W, van der Luijt, Rob B, Mensenkamp, Arjen R, Hogervorst, Frans B L, Redeker, Egbert J W, de Die-Smulders, Christine E M, Moll, Annette C, Meijers-Heijboer, Hanne

المساهمون: Genetica Sectie Genoomdiagnostiek, Cancer

مصطلحات موضوعية: Familial adenomatous polyposis, Hereditary breast ovarian cancer, Li–Fraumeni syndrome, Prenatal diagnosis, Retinoblastoma, Von Hippel–Lindau disease, Journal Article

وصف الملف: image/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/349515Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/349515Test

المؤلفون: Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne

المصدر: Dommering , C J , Henneman , L , van der Hout , A H , Jonker , M A , Tops , C M J , van den Ouweland , A M W , van der Luijt , R B , Mensenkamp , A R , Hogervorst , F B L , Redeker , E J W , de Die-Smulders , C E M , Moll , A C & Meijers-Heijboer , H 2017 , ' Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands ' , Familial Cancer , vol. ....

مصطلحات موضوعية: Retinoblastoma, Prenatal diagnosis, Von Hippel-Lindau disease, Li-Fraumeni syndrome, Familial adenomatous polyposis, Hereditary breast ovarian cancer, PREIMPLANTATION GENETIC DIAGNOSIS, ASSISTED REPRODUCTION, INCREASED RISK, BREAST-CANCER, SUSCEPTIBILITY, IDENTIFICATION, ATTITUDES, PREDISPOSITION, MUTATION, ISSUES

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/e6a4a720-be89-4c96-9bfb-795679a81844Test

الإتاحة: https://doi.org/10.1007/s10689-016-9943-zTest
https://hdl.handle.net/11370/e6a4a720-be89-4c96-9bfb-795679a81844Test
https://research.rug.nl/en/publications/e6a4a720-be89-4c96-9bfb-795679a81844Test

المؤلفون: Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista, Johansson, Leonnart F., van Essen, Anthonie J, Verheij, Johanna B G M, Veenstra-Knol, Hermine E, Redeker, Egbert J W, Mannens, Marcel M A M, Swertz, Morris A, Alizadeh, Behrooz Z, van Ravenswaaij-Arts, Conny M A, Sinke, Richard J, Sikkema-Raddatz, Birgit

المصدر: Rump , P , Jazayeri , O , van Dijk-Bos , K , Johansson , L F , van Essen , A J , Verheij , J B G M , Veenstra-Knol , H E , Redeker , E J W , Mannens , M M A M , Swertz , M A , Alizadeh , B Z , van Ravenswaaij-Arts , C M A , Sinke , R J & Sikkema-Raddatz , B 2016 , ' Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly ' , BMC Medical ....

مصطلحات موضوعية: Autosomal recessive inheritance, ASPM, BRCA2, CASK, DYRK1A, ERCC8, KIF11, Microcephaly, RAB3GAP1 RNASEH2B, RTTN, Whole-exome sequencing, MENDELIAN DISORDERS, MUTATIONS, GENES, POPULATION, PHENOTYPE, UPDATE, MAP

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/18f19b8c-aa4f-405c-8d23-c875792263e6Test

الإتاحة: https://doi.org/10.1186/s12920-016-0167-8Test
https://hdl.handle.net/11370/18f19b8c-aa4f-405c-8d23-c875792263e6Test
https://research.rug.nl/en/publications/18f19b8c-aa4f-405c-8d23-c875792263e6Test
https://pure.rug.nl/ws/files/41442028/Whole_exome_sequencing_is_a_powerful_approach_for_establishing_the_etiological_diagnosis_in_patients_with_intellectual_disability_and_microcephaly.pdfTest

المؤلفون: Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne

المصدر: Familial Cancer ; volume 16, issue 2, page 271-277 ; ISSN 1389-9600 1573-7292

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

الإتاحة: https://doi.org/10.1007/s10689-016-9943-zTest

المؤلفون: Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K., Johansson, Lennart F., van Essen, Anthonie J., Verheij, Johanna B. G. M., Veenstra-Knol, Hermine E., Redeker, Egbert J. W., Mannens, Marcel M. A. M., Swertz, Morris A., Alizadeh, Behrooz Z., van Ravenswaaij-Arts, Conny M. A., Sinke, Richard J., Sikkema-Raddatz, Birgit

المساهمون: grant from the University Medical Centre Groningen (Doelmatigheidsfonds).

المصدر: BMC Medical Genomics ; volume 9, issue 1 ; ISSN 1755-8794

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1186/s12920-016-0167-8Test

المؤلفون: Huisman, Sylvia A, Redeker, Egbert J W, Maas, Saskia M, Mannens, Marcel M, Hennekam, Raoul C M

مصطلحات موضوعية: Somatic mosaicism

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/50/5/339Test; http://dx.doi.org/10.1136/jmedgenet-2012-101477Test

الإتاحة: https://doi.org/10.1136/jmedgenet-2012-101477Test
http://jmg.bmj.com/cgi/content/short/50/5/339Test

المؤلفون: Hollants, Silke, Redeker, Egbert J W, Matthijs, Gert

المساهمون: EU-funded TECHGENE, EuroGentest

المصدر: Clinical Chemistry ; volume 58, issue 4, page 717-724 ; ISSN 0009-9147 1530-8561

مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry

الإتاحة: https://doi.org/10.1373/clinchem.2011.173963Test
http://academic.oup.com/clinchem/article-pdf/58/4/717/32657682/clinchem0717.pdfTest

المؤلفون: Kempers, Marlies J. E., Kuiper, Roland P., Ockeloen, Charlotte W., Chappuis, Pierre O., Hutter, Pierre, Rahner, Nils, Schackert, Hans K., Steinke, Verena, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Buettner, Reinhard, Verwiel, Eugene T. P., van Krieken, J. Han, Nagtegaal, Iris D., Goossens, Monique, van der Post, Rachel S., Niessen, Renee C., Sijmons, Rolf H., Kluijt, Irma, Hogervorst, Frans B. L., Leter, Edward M., Gille, Johan J. P., Aalfs, Cora M., Redeker, Egbert J. W., Hes, Frederik J., Tops, Carli M. J., van Nesselrooij, Bernadette P. M., van Gijn, Marielle E., Garcia, Encarna B. Gomez, Eccles, Diana M., Bunyan, David J., Syngal, Sapna, Stoffel, Elena M., Culver, Julie O., Palomares, Melanie R., Graham, Tracy, Velsher, Lea, Papp, Janos, Olah, Edith, Chan, Tsun L., Leung, Suet Y., van Kessel, Ad Geurts, Kiemeney, Lambertus A. L. M., Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J. L.

المصدر: Kempers , M J E , Kuiper , R P , Ockeloen , C W , Chappuis , P O , Hutter , P , Rahner , N , Schackert , H K , Steinke , V , Holinski-Feder , E , Morak , M , Kloor , M , Buettner , R , Verwiel , E T P , van Krieken , J H , Nagtegaal , I D , Goossens , M , van der Post , R S , Niessen , R C , Sijmons , R H , Kluijt , I , Hogervorst , F ....

مصطلحات موضوعية: REPAIR GENE HMSH2, MUTATION CARRIERS, STEM-CELLS, MSH2, FAMILIES, HYPERMETHYLATION, SURVEILLANCE, METHYLATION, MANAGEMENT, TACSTD1

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/e61cdce5-1cb8-4798-80e0-68082ebd17a4Test

الإتاحة: https://doi.org/10.1016/S1470-2045Test(10)70265-5
https://hdl.handle.net/11370/e61cdce5-1cb8-4798-80e0-68082ebd17a4Test
https://research.rug.nl/en/publications/e61cdce5-1cb8-4798-80e0-68082ebd17a4Test
https://pure.rug.nl/ws/files/237172519/1_s2.0_S1470204510702655_main.pdfTest