Fetal Brain Lesions in Tuberous Sclerosis Complex: TORC1 Activation and Inflammation
Prabowo, Avanita S., Anink, Jasper J., Lammens, Martin, Nellist, Mark, van den Ouweland, Ans M. W., Adle-Biassette, Homa, Sarnat, Harvey B., Flores-Sarnat, Laura, Crino, Peter B., Aronica, Eleonora
Published in Brain pathology (Zurich, Switzerland) (01.01.2013)
Published in Brain pathology (Zurich, Switzerland) (01.01.2013)
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Journal Article
Lack of large genomic deletions in BRIP1, PALB2, and FANCD2 genes in BRCA1/2 negative familial breast cancer
Ameziane, Najim, van den Ouweland, Ans M. W, Adank, Muriel A, Vijzelaar, Raymond N. C. P, Errami, Abdellatif, Dorsman, Josephine C, Joenje, Hans, Meijers-Heijboer, Hanne, Waisfisz, Quinten
Published in Breast cancer research and treatment (01.12.2009)
Published in Breast cancer research and treatment (01.12.2009)
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Journal Article
Prevalence of the variant allele rs61764370 T>G in the 3'UTR of KRAS among Dutch BRCA1, BRCA2 and non-BRCA1/BRCA2 breast cancer families
HOLLESTELLE, Antoinette, PELLETIER, Cory, AULCHENKO, Yurii S, MARTENS, John W. M, VAN DEN OUWELAND, Ans M. W, WEIDHAAS, Joanne B, HOONING, Maartje, CREPIN, Ellen, SCHUTTE, Mieke, LOOK, Maxime, MARGRIET COLLEE, J, NIEUWLAAT, Anja, DORSSERS, Lambert C. J, SEYNAEVE, Caroline
Published in Breast cancer research and treatment (01.07.2011)
Published in Breast cancer research and treatment (01.07.2011)
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Journal Article
Genetic analysis of von Hippel-Lindau disease
Nordstrom-O'Brien, Morgan, van der Luijt, Rob B, van Rooijen, Ellen, van den Ouweland, Ans M, Majoor-Krakauer, Danielle F, Lolkema, Martijn P, van Brussel, Aram, Voest, Emile E, Giles, Rachel H
Published in Human mutation (01.05.2010)
Published in Human mutation (01.05.2010)
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Journal Article
Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex
Mühlebner, Angelika, van Scheppingen, Jackelien, Hulshof, Hanna M, Scholl, Theresa, Iyer, Anand M, Anink, Jasper J, van den Ouweland, Ans M W, Nellist, Mark D, Jansen, Floor E, Spliet, Wim G M, Krsek, Pavel, Benova, Barbora, Zamecnik, Josef, Crino, Peter B, Prayer, Daniela, Czech, Thomas, Wöhrer, Adelheid, Rahimi, Jasmin, Höftberger, Romana, Hainfellner, Johannes A, Feucht, Martha, Aronica, Eleonora
Published in PloS one (13.06.2016)
Published in PloS one (13.06.2016)
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Journal Article
Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair
Wielders, Eva AL, Hettinger, Jan, Dekker, Rob, Kets, C Marleen, Ligtenberg, Marjolijn J, Mensenkamp, Arjen R, van den Ouweland, Ans MW, Prins, Judith, Wagner, Anja, Dinjens, Winand NM, Dubbink, Hendrikus Jan, van Hest, Liselotte P, Menko, Fred, Hogervorst, Frans, Verhoef, Senno, te Riele, Hein
Published in Journal of medical genetics (01.04.2014)
Published in Journal of medical genetics (01.04.2014)
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Journal Article
Retinal haemangioblastomas in von Hippel–Lindau germline mutation carriers: progression, complications and treatment outcome
Hajjaj, Anass, Overdam, Koen A., Oldenburg, Rogier A., Koopmans, Anna E., Ouweland, Ans M. W., Klein, Annelies, Kiliç, Emine
Published in Acta ophthalmologica (Oxford, England) (01.08.2020)
Published in Acta ophthalmologica (Oxford, England) (01.08.2020)
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Journal Article
Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis
van den Ouweland, Ans M. W., Elfferich, Peter, Lamping, Roy, van de Graaf, Raoul, van Veghel-Plandsoen, Monique M., Franken, S. M., Houweling, A. C.
Published in Familial cancer (01.03.2011)
Published in Familial cancer (01.03.2011)
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Journal Article
Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis
Balgobind, Brian V., Van Vlierberghe, Pieter, van den Ouweland, Ans M.W., Beverloo, H. Berna, Terlouw-Kromosoeto, Joan N.R., van Wering, Elisabeth R., Reinhardt, Dirk, Horstmann, Martin, Kaspers, Gertjan J.L., Pieters, Rob, Zwaan, C. Michel, Van den Heuvel-Eibrink, Marry M., Meijerink, Jules P.P.
Published in Blood (15.04.2008)
Published in Blood (15.04.2008)
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Journal Article
combined analysis of genome-wide association studies in breast cancer
Li, Jingmei, Humphreys, Keith, Heikkinen, Tuomas, Aittomäki, Kristiina, Blomqvist, Carl, Pharoah, Paul D. P, Dunning, Alison M, Ahmed, Shahana, Hooning, Maartje J, Martens, John W. M, van den Ouweland, Ans M. W, Alfredsson, Lars, Palotie, Aarno, Peltonen-Palotie, Leena, Irwanto, Astrid, Low, Hui Qi, Teoh, Garrett H. K, Thalamuthu, Anbupalam, Easton, Douglas F, Nevanlinna, Heli, Liu, Jianjun, Czene, Kamila, Hall, Per
Published in Breast cancer research and treatment (01.04.2011)
Published in Breast cancer research and treatment (01.04.2011)
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Journal Article
CHEK21100delC homozygosity is associated with a high breast cancer risk in women
Adank, Muriel A, Jonker, Marianne A, Kluijt, Irma, van Mil, Saskia E, Oldenburg, Rogier A, Mooi, Wolter J, Hogervorst, Frans B L, van den Ouweland, Ans M W, Gille, Johan J P, Schmidt, Marjanka K, van der Vaart, Aad W, Meijers-Heijboer, Hanne, Waisfisz, Quinten
Published in Journal of medical genetics (01.12.2011)
Published in Journal of medical genetics (01.12.2011)
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Journal Article
Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis
RANNAN-ELIYA, Sahan V, TAYLOR, Indira B, DE HEER, I. Marieke, VAN DEN OUWELAND, Ans M. W, WALL, Steven A, WILKIE, Andrew O. M
Published in Human genetics (01.08.2004)
Published in Human genetics (01.08.2004)
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Journal Article
Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val)
Tudini, Emma, Moghadasi, Setareh, Parsons, Michael T., van der Kolk, Lizet, van den Ouweland, Ans M. W., Niederacher, Dieter, Feliubadaló, Lídia, Wappenschmidt, Barbara, Spurdle, Amanda B., Lazaro, Conxi
Published in Breast cancer research and treatment (01.11.2018)
Published in Breast cancer research and treatment (01.11.2018)
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Journal Article
Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers
Geurts-Giele, Willemina RR, Leenen, Celine HM, Dubbink, Hendrikus J, Meijssen, Isabelle C, Post, Edward, Sleddens, Hein FBM, Kuipers, Ernst J, Goverde, Anne, van den Ouweland, Ans MW, van Lier, Margot GF, Steyerberg, Ewout W, van Leerdam, Monique E, Wagner, Anja, Dinjens, Winand NM
Published in The Journal of pathology (01.12.2014)
Published in The Journal of pathology (01.12.2014)
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Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines
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
Published in Cancers (04.08.2019)
Published in Cancers (04.08.2019)
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Journal Article
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease
Tarailo-Graovac, Maja, Drögemöller, Britt I, Wasserman, Wyeth W, Ross, Colin J D, van den Ouweland, Ans M W, Darin, Niklas, Kollberg, Gittan, van Karnebeek, Clara D M, Blomqvist, Maria
Published in Orphanet journal of rare diseases (10.02.2017)
Published in Orphanet journal of rare diseases (10.02.2017)
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Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands
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
Published in Familial cancer (01.04.2017)
Published in Familial cancer (01.04.2017)
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Journal Article
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation
Jansen, An C., Sancak, Ozgur, D'Agostino, Maria Daniela, Badhwar, Amanpreet, Roberts, Penelope, Gobbi, Gabriella, Wilkinson, Ralph, Melanson, Denis, Tampieri, Donatella, Koenekoop, Robert, Gans, Mark, Maat-Kievit, Anneke, Goedbloed, Miriam, van den Ouweland, Ans M. W., Nellist, Mark, Pandolfo, Massimo, McQueen, Mary, Sims, Katherine, Thiele, Elisabeth A., Dubeau, François, Andermann, Frederick, Kwiatkowski, David J., Halley, Dicky J. J., Andermann, Eva
Published in Annals of neurology (01.11.2006)
Published in Annals of neurology (01.11.2006)
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Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism
VAN VEGHEL-PLANDSOEN, Monique M, WOUTERS, Cokkie H, KROMOSOETO, Joan N. R, DEN RIDDER-KLÜNNEN, Mariska C, HALLEY, Dicky J. J, VAN DEN OUWELAND, Ans M. W
Published in European journal of human genetics : EJHG (01.09.2011)
Published in European journal of human genetics : EJHG (01.09.2011)
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