Results
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21.
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The MLH1 c.-27C>A and c.85G>T variants are linked to dominantly inherited MLH1 epimutation and are borne on a European ancestral haplotype. [electronic resource] by
- Kwok, Chau-To
- Vogelaar, Ingrid P
- van Zelst-Stams, Wendy A
- Mensenkamp, Arjen R
- Ligtenberg, Marjolijn J
- Rapkins, Robert W
- Ward, Robyn L
- Chun, Nicolette
- Ford, James M
- Ladabaum, Uri
- McKinnon, Wendy C
- Greenblatt, Marc S
- Hitchins, Megan P
Producer: 20150126
In:
European journal of human genetics : EJHG vol. 22
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22.
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Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer. [electronic resource] by
- Elsayed, Fadwa A
- Kets, C Marleen
- Ruano, Dina
- van den Akker, Brendy
- Mensenkamp, Arjen R
- Schrumpf, Melanie
- Nielsen, Maartje
- Wijnen, Juul T
- Tops, Carli M
- Ligtenberg, Marjolijn J
- Vasen, Hans F A
- Hes, Frederik J
- Morreau, Hans
- van Wezel, Tom
Producer: 20160428
In:
European journal of human genetics : EJHG vol. 23
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23.
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Bias Explains Most of the Parent-of-Origin Effect on Breast Cancer Risk in BRCA1/2 Mutation Carriers. [electronic resource] by
- Vos, Janet R
- Oosterwijk, Jan C
- Aalfs, Cora M
- Rookus, Matti A
- Adank, Muriel A
- van der Hout, Annemarie H
- van Asperen, Christi J
- Gómez Garcia, Encarna B
- Mensenkamp, Arjen R
- Jager, Agnes
- Ausems, Margreet G E M
- Mourits, Marian J
- de Bock, Geertruida H
Producer: 20180112
In:
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology vol. 25
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24.
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The association between cancer family history and ovarian cancer risk in BRCA1/2 mutation carriers: can it be explained by the mutation position? [electronic resource] by
- Teixeira, Natalia
- van der Hout, Annemieke
- Oosterwijk, Jan C
- Vos, Janet R
- Devilee, Peter
- van Engelen, Klaartje
- Meijers-Heijboer, Hanne
- van der Luijt, Rob B
- Kriege, Mieke
- Mensenkamp, Arjen R
- Rookus, Matti A
- van Roozendaal, Kees E
- Mourits, Marian J E
- de Bock, Geertruida H
Producer: 20190221
In:
European journal of human genetics : EJHG vol. 26
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25.
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Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair. [electronic resource] by
- Wielders, Eva A L
- Hettinger, Jan
- Dekker, Rob
- Kets, C Marleen
- Ligtenberg, Marjolijn J
- Mensenkamp, Arjen R
- van den Ouweland, Ans M W
- Prins, Judith
- Wagner, Anja
- Dinjens, Winand N M
- Dubbink, Hendrikus Jan
- van Hest, Liselotte P
- Menko, Fred
- Hogervorst, Frans
- Verhoef, Senno
- te Riele, Hein
Producer: 20141112
In:
Journal of medical genetics vol. 51
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26.
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Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas. [electronic resource] by
- Weren, Robbert D A
- Mensenkamp, Arjen R
- Simons, Michiel
- Eijkelenboom, Astrid
- Sie, Aisha S
- Ouchene, Hicham
- van Asseldonk, Monique
- Gomez-Garcia, Encarna B
- Blok, Marinus J
- de Hullu, Joanne A
- Nelen, Marcel R
- Hoischen, Alexander
- Bulten, Johan
- Tops, Bastiaan B J
- Hoogerbrugge, Nicoline
- Ligtenberg, Marjolijn J L
Producer: 20180112
In:
Human mutation vol. 38
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27.
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Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. [electronic resource] by
- de Voer, Richarda M
- Hahn, Marc-Manuel
- Mensenkamp, Arjen R
- Hoischen, Alexander
- Gilissen, Christian
- Henkes, Arjen
- Spruijt, Liesbeth
- van Zelst-Stams, Wendy A
- Kets, C Marleen
- Verwiel, Eugene T
- Nagtegaal, Iris D
- Schackert, Hans K
- van Kessel, Ad Geurts
- Hoogerbrugge, Nicoline
- Ligtenberg, Marjolijn J L
- Kuiper, Roland P
Producer: 20160810
In:
Scientific reports vol. 5
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28.
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Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition. [electronic resource] by
- Vos, Janet R
- Fakkert, Ingrid E
- de Hullu, Joanne A
- van Altena, Anne M
- Sie, Aisha S
- Ouchene, Hicham
- Willems, Riki W
- Nagtegaal, Iris D
- Jongmans, Marjolijn C J
- Mensenkamp, Arjen R
- Woldringh, Gwendolyn H
- Bulten, Johan
- Leter, Edward M
- Kets, C Marleen
- Simons, Michiel
- Ligtenberg, Marjolijn J L
- Hoogerbrugge, Nicoline
Producer: 20200810
In:
Journal of the National Cancer Institute vol. 112
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29.
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Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma. [electronic resource] by
- Rao, Jyotsna U
- Engelke, Udo F H
- Rodenburg, Richard J T
- Wevers, Ron A
- Pacak, Karel
- Eisenhofer, Graeme
- Qin, Nan
- Kusters, Benno
- Goudswaard, Angelina G
- Lenders, Jacques W M
- Hermus, Ad R M M
- Mensenkamp, Arjen R
- Kunst, Henricus P M
- Sweep, Fred C G J
- Timmers, Henri J L M
Producer: 20140205
In:
Clinical cancer research : an official journal of the American Association for Cancer Research vol. 19
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30.
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Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands. [electronic resource] by
- 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
Producer: 20170926
In:
Familial cancer vol. 16
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31.
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Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. [electronic resource] by
- Jones, Bethan
- Jones, Emma L
- Bonney, Stephanie A
- Patel, Hetal N
- Mensenkamp, Arjen R
- Eichenbaum-Voline, Sophie
- Rudling, Mats
- Myrdal, Urban
- Annesi, Grazia
- Naik, Sandhia
- Meadows, Nigel
- Quattrone, Aldo
- Islam, Suhail A
- Naoumova, Rossitza P
- Angelin, Bo
- Infante, Recaredo
- Levy, Emile
- Roy, Claude C
- Freemont, Paul S
- Scott, James
- Shoulders, Carol C
Producer: 20030527
In:
Nature genetics vol. 34
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32.
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Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report. [electronic resource] by
- Spurdle, Amanda B
- Greville-Heygate, Stephanie
- Antoniou, Antonis C
- Brown, Melissa
- Burke, Leslie
- de la Hoya, Miguel
- Domchek, Susan
- Dörk, Thilo
- Firth, Helen V
- Monteiro, Alvaro N
- Mensenkamp, Arjen
- Parsons, Michael T
- Radice, Paolo
- Robson, Mark
- Tischkowitz, Marc
- Tudini, Emma
- Turnbull, Clare
- Vreeswijk, Maaike Pg
- Walker, Logan C
- Tavtigian, Sean
- Eccles, Diana M
Producer: 20200604
In:
Journal of medical genetics vol. 56
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33.
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Correlation between in vivo 18F-FDG PET and immunohistochemical markers of glucose uptake and metabolism in pheochromocytoma and paraganglioma. [electronic resource] by
- van Berkel, Anouk
- Rao, Jyotsna U
- Kusters, Benno
- Demir, Tuna
- Visser, Eric
- Mensenkamp, Arjen R
- van der Laak, Jeroen A W M
- Oosterwijk, Egbert
- Lenders, Jacques W M
- Sweep, Fred C G J
- Wevers, Ron A
- Hermus, Ad R
- Langenhuijsen, Johan F
- Kunst, Dirk P M
- Pacak, Karel
- Gotthardt, Martin
- Timmers, Henri J L M
Producer: 20150713
In:
Journal of nuclear medicine : official publication, Society of Nuclear Medicine vol. 55
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34.
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Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1. [electronic resource] by
- van der Post, Rachel S
- Vogelaar, Ingrid P
- Manders, Peggy
- van der Kolk, Lizet E
- Cats, Annemieke
- van Hest, Liselotte P
- Sijmons, Rolf
- Aalfs, Cora M
- Ausems, Margreet G E M
- Gómez García, Encarna B
- Wagner, Anja
- Hes, Frederik J
- Arts, Neeltje
- Mensenkamp, Arjen R
- van Krieken, J Han
- Hoogerbrugge, Nicoline
- Ligtenberg, Marjolijn J L
Producer: 20151229
In:
Gastroenterology vol. 149
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35.
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Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility. [electronic resource] by
- de Voer, Richarda M
- Hahn, Marc-Manuel
- Weren, Robbert D A
- Mensenkamp, Arjen R
- Gilissen, Christian
- van Zelst-Stams, Wendy A
- Spruijt, Liesbeth
- Kets, C Marleen
- Zhang, Junxiao
- Venselaar, Hanka
- Vreede, Lilian
- Schubert, Nil
- Tychon, Marloes
- Derks, Ronny
- Schackert, Hans K
- Geurts van Kessel, Ad
- Hoogerbrugge, Nicoline
- Ligtenberg, Marjolijn J L
- Kuiper, Roland P
Producer: 20160719
In:
PLoS genetics vol. 12
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36.
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Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study. [electronic resource] by
- van der Tuin, Karin
- Mensenkamp, Arjen R
- Tops, Carli M J
- Corssmit, Eleonora P M
- Dinjens, Winand N
- van de Horst-Schrivers, Anouk N A
- Jansen, Jeroen C
- de Jong, Mirjam M
- Kunst, Henricus P M
- Kusters, Benno
- Leter, Edward M
- Morreau, Hans
- van Nesselrooij, Bernadette M P
- Oldenburg, Rogier A
- Spruijt, Liesbeth
- Hes, Frederik J
- Timmers, Henri J L M
Producer: 20180604
In:
The Journal of clinical endocrinology and metabolism vol. 103
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37.
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An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice. [electronic resource] by
- Ellison, Gillian
- Ahdesmäki, Miika
- Luke, Sally
- Waring, Paul M
- Wallace, Andrew
- Wright, Ronnie
- Röthlisberger, Benno
- Ludin, Katja
- Merkelbach-Bruse, Sabine
- Heydt, Carina
- Ligtenberg, Marjolijn J L
- Mensenkamp, Arjen R
- de Castro, David Gonzalez
- Jones, Thomas
- Vivancos, Ana
- Kondrashova, Olga
- Pauwels, Patrick
- Weyn, Christine
- Hahnen, Eric
- Hauke, Jan
- Soong, Richie
- Lai, Zhongwu
- Dougherty, Brian
- Carr, T Hedley
- Johnson, Justin
- Mills, John
- Barrett, J Carl
Producer: 20190328
In:
Human mutation vol. 39
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38.
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Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders. [electronic resource] by
- Pfundt, Rolph
- Del Rosario, Marisol
- Vissers, Lisenka E L M
- Kwint, Michael P
- Janssen, Irene M
- de Leeuw, Nicole
- Yntema, Helger G
- Nelen, Marcel R
- Lugtenberg, Dorien
- Kamsteeg, Erik-Jan
- Wieskamp, Nienke
- Stegmann, Alexander P A
- Stevens, Servi J C
- Rodenburg, Richard J T
- Simons, Annet
- Mensenkamp, Arjen R
- Rinne, Tuula
- Gilissen, Christian
- Scheffer, Hans
- Veltman, Joris A
- Hehir-Kwa, Jayne Y
Producer: 20180213
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 19
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39.
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants. [electronic resource] by
- Lee, Kristy
- Krempely, Kate
- Roberts, Maegan E
- Anderson, Michael J
- Carneiro, Fatima
- Chao, Elizabeth
- Dixon, Katherine
- Figueiredo, Joana
- Ghosh, Rajarshi
- Huntsman, David
- Kaurah, Pardeep
- Kesserwan, Chimene
- Landrith, Tyler
- Li, Shuwei
- Mensenkamp, Arjen R
- Oliveira, Carla
- Pardo, Carolina
- Pesaran, Tina
- Richardson, Matthew
- Slavin, Thomas P
- Spurdle, Amanda B
- Trapp, Mackenzie
- Witkowski, Leora
- Yi, Charles S
- Zhang, Liying
- Plon, Sharon E
- Schrader, Kasmintan A
- Karam, Rachid
Producer: 20190820
In:
Human mutation vol. 39
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40.
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Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines. [electronic resource] by
- Chau, Cindy
- van Doorn, Remco
- van Poppelen, Natasha M
- van der Stoep, Nienke
- Mensenkamp, Arjen R
- Sijmons, Rolf H
- van Paassen, Barbara W
- van den Ouweland, Ans M W
- Naus, Nicole C
- van der Hout, Annemieke H
- Potjer, Thomas P
- Bleeker, Fonnet E
- Wevers, Marijke R
- van Hest, Liselotte P
- Jongmans, Marjolijn C J
- Marinkovic, Marina
- Bleeker, Jaco C
- Jager, Martine J
- Luyten, Gregorius P M
- Nielsen, Maartje
Publication details: Cancers Aug 2019
In:
Cancers vol. 11
Availability: No items available.
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