Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers by 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

Get full text

Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome by van Lier, Margot GF, Leenen, Celine HM, Wagner, Anja, Ramsoekh, Dewkoemar, Dubbink, Hendrikus J, van den Ouweland, Ans MW, Westenend, Pieter J, de Graaf, Eelco JR, Wolters, Leonieke MM, Vrijland, Wietske W, Kuipers, Ernst J, van Leerdam, Monique E, Steyerberg, Ewout W, Dinjens, Winand NM

Get full text

Fetal Brain Lesions in Tuberous Sclerosis Complex: TORC1 Activation and Inflammation by 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

Get full text

Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability by Twigg, Stephen R.F., Forecki, Jennifer, Goos, Jacqueline A.C., Richardson, Ivy C.A., Hoogeboom, A. Jeannette M., van den Ouweland, Ans M.W., Swagemakers, Sigrid M.A., Lequin, Maarten H., Van Antwerp, Daniel, McGowan, Simon J., Westbury, Isabelle, Miller, Kerry A., Wall, Steven A., van der Spek, Peter J., Mathijssen, Irene M.J., Pauws, Erwin, Merzdorf, Christa S., Wilkie, Andrew O.M.

Get full text

Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol by Den Ottelander, Bianca K, Van Veelen, Marie‐Lise C, De Goederen, Robbin, Van De Beeten, Stephanie DC, Dremmen, Marjolein HG, Loudon, Sjoukje E, Versnel, Sarah L, Van Den Ouweland, Ans MW, Van Dooren, Marieke F, Joosten, Koen FM, Mathijssen, Irene MJ

Get full text

Recurrence and variability of germline EPCAM deletions in Lynch syndrome by Kuiper, Roland P., Vissers, Lisenka E.L.M., Venkatachalam, Ramprasath, Bodmer, Danielle, Hoenselaar, Eveline, Goossens, Monique, Haufe, Aline, Kamping, Eveline, Niessen, Renée C., Hogervorst, Frans B.L., Gille, Johan J.P., Redeker, Bert, Tops, Carli M.J., van Gijn, Marielle E., van den Ouweland, Ans M.W., Rahner, Nils, Steinke, Verena, Kahl, Philip, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Stemmler, Susanne, Betz, Beate, Hutter, Pierre, Bunyan, David J., Syngal, Sapna, Culver, Julie O., Graham, Tracy, Chan, Tsun L., Nagtegaal, Iris D., van Krieken, J. Han J.M, Schackert, Hans K., Hoogerbrugge, Nicoline, van Kessel, Ad Geurts, Ligtenberg, Marjolijn J.L.

Get full text

Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70 years of age by Goverde, Anne, Spaander, Manon CW, van Doorn, Helena C, Dubbink, Hendrikus J, van den Ouweland, Ans MW, Tops, Carli M, Kooi, Sjarlot G, de Waard, Judith, Hoedemaeker, Robert F, Bruno, Marco J, Hofstra, Robert MW, de Bekker-Grob, Esther W, Dinjens, Winand NM, Steyerberg, Ewout W, Wagner, Anja

Get full text

Genotype and brain pathology phenotype in children with tuberous sclerosis complex by Overwater, Iris E, Swenker, Rob, van der Ende, Emma L, Hanemaayer, Kimberley Bm, Hoogeveen-Westerveld, Marianne, van Eeghen, Agnies M, Lequin, Maarten H, van den Ouweland, Ans Mw, Moll, Henriëtte A, Nellist, Mark, de Wit, Marie-Claire Y

Get full text

Apparently synonymous substitutions in FGFR2affect splicing and result in mild Crouzon syndrome by Fenwick, Aimee L, Goos, Jacqueline AC, Rankin, Julia, Lord, Helen, Lester, Tracy, Hoogeboom, A Jeannette M, van den Ouweland, Ans MW, Wall, Steven A, Mathijssen, Irene MJ, Wilkie, Andrew OM

Get full text

Legius syndrome in fourteen families by Denayer, Ellen, Chmara, Magdalena, Brems, Hilde, Kievit, Anneke Maat, van Bever, Yolande, Van den Ouweland, Ans MW, Van Minkelen, Rick, de Goede-Bolder, Arja, Oostenbrink, Rianne, Lakeman, Phillis, Beert, Eline, Ishizaki, Takuma, Mori, Tomoaki, Keymolen, Kathelijn, Van den Ende, Jenneke, Mangold, Elisabeth, Peltonen, Sirkku, Brice, Glen, Rankin, Julia, Van Spaendonck-Zwarts, Karin Y, Yoshimura, Akihiko, Legius, Eric

Get full text

Type 1 papillary renal cell carcinoma in a patient with schwannomatosis: Mosaic versus loss of SMARCB1 expression in respectively schwannoma and renal tumor cells by Hulsebos, Theo J.M., Kenter, Susan, Baas, Frank, Nannenberg, Eline A., Bleeker, Fonnet E., van Minkelen, Rick, van den Ouweland, Ans M.W., Wesseling, Pieter, Flucke, Uta

Get full text

Clinicopathological and immunohistochemical findings in an autopsy case of tuberous sclerosis complex by Boer, Karin, Troost, Dirk, Jansen, Floor, Nellist, Mark, Van Den Ouweland, Ans M.W., Geurts, Jeroen J.G., Spliet, Wim G.M., Crino, Peter, Aronica, Eleonora

Get full text

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome by Fenwick, Aimee L, Goos, Jacqueline A C, Rankin, Julia, Lord, Helen, Lester, Tracy, Hoogeboom, A Jeannette M, van den Ouweland, Ans M W, Wall, Steven A, Mathijssen, Irene M J, Wilkie, Andrew O M

Get full text

Clinical utility gene card for: tuberous sclerosis complex (TSC1, TSC2) by Mayer, Karin, Fonatsch, Christa, Wimmer, Katharina, van den Ouweland, Ans M W, Maat-Kievit, Anneke J A

Get full text

Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis by VAN LIER, Margot Gf, KORSSE, Susanne E, MATHUS-VLIEGEN, Elisabeth Mh, KUIPERS, Ernst J, VAN DEN OUWELAND, Ans Mw, VANHEUSDEN, Kathleen, VAN LEERDAM, Monique E, WAGNER, Anja

Get full text

A novel mutation in FGFR2 by Goos, Jacqueline A. C., van den Ouweland, Ans M. W., Swagemakers, Sigrid M. A., Verkerk, Annemieke J. M. H., Hoogeboom, A. Jeannette M., van Veelen, Marie-Lise C., Mathijssen, Irene M. J., van der Spek, Peter J.

Get full text

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting by Hout, Annemarie H. van der, Ouweland, Ans M.W. van den, Luijt, Rob B. van der, Gille, Hans J.P., Bodmer, Daniëlle, Brüggenwirth, Hennie, Mulder, Inge M., Vlies, Pieter van der, Elfferich, Peter, Huisman, Maarten T., Berge, Annelies M. ten, Kromosoeto, Joan, Jansen, Rumo P.M., Zon, Patrick H.A. van, Vriesman, Thyrsa, Arts, Neeltje, Lange, Majella Boutmy-de, Oosterwijk, Jan C., Meijers-Heijboer, Hanne, Ausems, Margreet G.E.M., Hoogerbrugge, Nicoline, Verhoef, Senno, Halley, Dicky J.J., Vos, Yvonne J., Hogervorst, Frans, Ligtenberg, Marjolijn, Hofstra, Robert M.W.

Get full text

Cost-effectiveness of routine screening for Lynch syndrome in endometrial cancer patients up to 70years of age by Goverde, Anne, Spaander, Manon CW, van Doorn, Helena C, Dubbink, Hendrikus J, van den Ouweland, Ans MW, Tops, Carli M, Kooi, Sjarlot G, de Waard, Judith, Hoedemaeker, Robert F, Bruno, Marco J, Hofstra, Robert MW, de Bekker-Grob, Esther W, Dinjens, Winand NM, Steyerberg, Ewout W, Wagner, Anja

Get full text

Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients by VAN DEN OUWELAND, Ans Mw, ELFFERICH, Peter, ZONNENBERG, Bernard A, ARTS, Willem F, KLEEFSTRA, Tjitske, NELLIST, Mark D, MILLAN, Jose M, WITHAGEN-HERMANS, Caroline, MAAT-KIEVIT, Anneke Ja, HALLEY, Dicky Jj

Get full text

Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers by Antoniou, Antonis C., Spurdle, Amanda B., Sinilnikova, Olga M., Healey, Sue, Pooley, Karen A., Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph, Meindl, Alfons, Arnold, Norbert, Hofmann, Wera, Sutter, Christian, Niederacher, Dieter, Deissler, Helmut, Caldes, Trinidad, Kämpjärvi, Kati, Nevanlinna, Heli, Simard, Jacques, Beesley, Jonathan, Chen, Xiaoqing, Neuhausen, Susan L., Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Isaacs, Claudine, Weitzel, Jeffrey, Ganz, Patricia A., Daly, Mary B., Tomlinson, Gail, Olopade, Olufunmilayo I., Blum, Joanne L., Couch, Fergus J., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Radice, Paolo, Szabo, Csilla I., Pereira, Lutecia H. Mateus, Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Barnett-Griness, Ofra, Andrulis, Irene L., Ozcelik, Hilmi, Gerdes, Anne-Marie, Caligo, Maria A., Laitman, Yael, Kaufman, Bella, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M., Nathanson, Katherine L., Osorio, Ana, Llort, Gemma, Milne, Roger L., Benítez, Javier, Hamann, Ute, Hogervorst, Frans B.L., Manders, Peggy, Ligtenberg, Marjolijn J.L., van den Ouweland, Ans M.W., Peock, Susan, Cook, Margaret, Platte, Radka, Evans, D. Gareth, Eeles, Rosalind, Pichert, Gabriella, Chu, Carol, Eccles, Diana, Davidson, Rosemarie, Douglas, Fiona, Godwin, Andrew K., Barjhoux, Laure, Mazoyer, Sylvie, Sobol, Hagay, Bourdon, Violaine, Eisinger, François, Chompret, Agnès, Capoulade, Corinne, Bressac-de Paillerets, Brigitte, Lenoir, Gilbert M., Gauthier-Villars, Marion, Houdayer, Claude, Stoppa-Lyonnet, Dominique, Chenevix-Trench, Georgia, Easton, Douglas F.

Get full text