Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval

por Aissani, Brahim, Zhang, Kui, Mensenkamp, Arjen R, Menko, Fred H, Wiener, Howard W
Publicado 2015

DNA-testing for BRCA1/2 prior to genetic counselling in patients with breast cancer: design of an intervention study, DNA-direct

por Sie, Aisha S, Spruijt, Liesbeth, van Zelst-Stams, Wendy AG, Mensenkamp, Arjen R, Ligtenberg, Marjolijn J, Brunner, Han G, Prins, Judith B, Hoogerbrugge, Nicoline
Publicado 2012

High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling

por Sie, Aisha S., Spruijt, Liesbeth, van Zelst-Stams, Wendy A. G., Mensenkamp, Arjen R., Ligtenberg, Marjolijn J. L., Brunner, Han G., Prins, Judith B., Hoogerbrugge, Nicoline
Publicado 2015

Evaluation of yield and experiences of age‐related molecular investigation for heritable and nonheritable causes of mismatch repair deficient colorectal cancer to identify Lynch sy...

por Vos, Janet R., Fakkert, Ingrid E., Spruijt, Liesbeth, Willems, Riki W., Langenveld, Sera, Mensenkamp, Arjen R., Leter, Edward M., Nagtegaal, Iris D., Ligtenberg, Marjolijn J. L., Hoogerbrugge, Nicoline
Publicado 2020

Microsatellite instability in noncolorectal and nonendometrial malignancies in patients with Lynch syndrome

por Elze, Lisa, van der Post, Rachel S, Vos, Janet R, Mensenkamp, Arjen R, de Hullu, Mirjam S C, Nagtegaal, Iris D, Hoogerbrugge, Nicoline, de Voer, Richarda M, Ligtenberg, Marjolijn J L
Publicado 2023

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity

por Houlleberghs, Hellen, Goverde, Anne, Lusseveld, Jarnick, Dekker, Marleen, Bruno, Marco J., Menko, Fred H., Mensenkamp, Arjen R., Spaander, Manon C. W., Wagner, Anja, Hofstra, Robert M. W., te Riele, Hein
Publicado 2017

Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance

por van Spaendonck-Zwarts, Karin Y., Badeloe, Sadhanna, Oosting, Sjoukje F., Hovenga, Sjoerd, Semmelink, Harry J. F., van Moorselaar, R. Jeroen A., van Waesberghe, Jan Hein, Mensenkamp, Arjen R., Menko, Fred H.
Publicado 2011

TINF2 is a haploinsufficient tumor suppressor that limits telomere length

por Schmutz, Isabelle, Mensenkamp, Arjen R, Takai, Kaori K, Haadsma, Maaike, Spruijt, Liesbeth, de Voer, Richarda M, Choo, Seunga Sara, Lorbeer, Franziska K, van Grinsven, Emma J, Hockemeyer, Dirk, Jongmans, Marjolijn CJ, de Lange, Titia
Publicado 2020

The Endoplasmic Reticulum Coat Protein II Transport Machinery Coordinates Cellular Lipid Secretion and Cholesterol Biosynthesis

por Fryer, Lee G. D., Jones, Bethan, Duncan, Emma J., Hutchison, Claire E., Ozkan, Tozen, Williams, Paul A., Alder, Olivia, Nieuwdorp, Max, Townley, Anna K., Mensenkamp, Arjen R., Stephens, David J., Dallinga-Thie, Geesje M., Shoulders, Carol C.
Publicado 2014

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer

por de Voer, Richarda M., Hahn, Marc-Manuel, Mensenkamp, Arjen R., Hoischen, Alexander, Gilissen, Christian, Henkes, Arjen, Spruijt, Liesbeth, van Zelst-Stams, Wendy A., Marleen Kets, C., Verwiel, Eugene T., Nagtegaal, Iris D., Schackert, Hans K., van Kessel, Ad Geurts, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., Kuiper, Roland P.
Publicado 2015

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

por 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.
Publicado 2016

Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene

por Kuijpers, Taco W., de Vries, Andrica C.H., van Leeuwen, Ester M., Ermens, A.(Ton) A.M., de Pont, Saskia, Smith, Desirée E.C., Wamelink, Mirjam M.C., Mensenkamp, Arjen R., Nelen, Marcel R., Lango Allen, Hana, Pals, Steven T., Beverloo, Berna H.B., Huidekoper, Hidde H., Wagner, Anja
Publicado 2022

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

por 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
Publicado 2016

Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition

por 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
Publicado 2019

Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors

por Sabatella, Mariangela, Mantere, Tuomo, Waanders, Esmé, Neveling, Kornelia, Mensenkamp, Arjen R, van Dijk, Freerk, Hehir‐Kwa, Jayne Y, Derks, Ronnie, Kwint, Michael, O'Gorman, Luke, Tropa Martins, Madalena, Gidding, Corrie EM, Lequin, Maarten H, Küsters, Benno, Wesseling, Pieter, Nelen, Marcel, Biegel, Jacklyn A, Hoischen, Alexander, Jongmans, Marjolijn C, Kuiper, Roland P
Publicado 2021

PRDM10 directs FLCN expression in a novel disorder overlapping with Birt–Hogg–Dubé syndrome and familial lipomatosis

por van de Beek, Irma, Glykofridis, Iris E, Oosterwijk, Jan C, van den Akker, Peter C, Diercks, Gilles F H, Bolling, Maria C, Waisfisz, Quinten, Mensenkamp, Arjen R, Balk, Jesper A, Zwart, Rob, Postma, Alex V, Meijers-Heijboer, Hanne E J, van Moorselaar, R Jeroen A, Wolthuis, Rob M F, Houweling, Arjan C
Publicado 2022

Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility

por 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.
Publicado 2016

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

por 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.
Publicado 2017

An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice

por 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
Publicado 2017

SNP association study in PMS2-associated Lynch syndrome

por ten Broeke, Sanne W., Elsayed, Fadwa A., Pagan, Lisa, Olderode-Berends, Maran J. W., Garcia, Encarna Gomez, Gille, Hans J. P., van Hest, Liselot P., Letteboer, Tom G. W., van der Kolk, Lizet E., Mensenkamp, Arjen R., van Os, Theo A., Spruijt, Liesbeth, Redeker, Bert J. W., Suerink, Manon, Vos, Yvonne J., Wagner, Anja, Wijnen, Juul T., Steyerberg, E. W., Tops, Carli M. J., van Wezel, Tom, Nielsen, Maartje
Publicado 2017