Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder by Frints, Suzanna G. M., Ozanturk, Aysegul, Rodríguez Criado, Germán, Grasshoff, Ute, de Hoon, Bas, Field, Michael, Manouvrier-Hanu, Sylvie, E. Hickey, Scott, Kammoun, Molka, Gripp, Karen W., Bauer, Claudia, Schroeder, Christopher, Toutain, Annick, Mihalic Mosher, Theresa, Kelly, Benjamin J., White, Peter, Dufke, Andreas, Rentmeester, Eveline, Moon, Sungjin, Koboldt, Daniel C, van Roozendaal, Kees E. P., Hu, Hao, Haas, Stefan A., Ropers, Hans-Hilger, Murray, Lucinda, Haan, Eric, Shaw, Marie, Carroll, Renee, Friend, Kathryn, Liebelt, Jan, Hobson, Lynne, De Rademaeker, Marjan, Geraedts, Joep, Fryns, Jean-Pierre, Vermeesch, Joris, Raynaud, Martine, Riess, Olaf, Gribnau, Joost, Katsanis, Nicholas, Devriendt, Koen, Bauer, Peter, Gecz, Jozef, Golzio, Christelle, Gontan, Cristina, Kalscheuer, Vera M.

Get full text

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice by Halbach, Nicky S.J., Smeets, Eric E.J., van den Braak, Noortje, van Roozendaal, Kees E.P., Blok, Rien M.J., Schrander-Stumpel, Constance T.R.M., Frijns, Jean-Pierre, Maaskant, Marian A., Curfs, Leopold M.G.

Get full text

Psychiatric illness in a cohort of adults with Prader-Willi syndrome by Sinnema, Margje, Boer, Harm, Collin, Philippe, Maaskant, Marian A., van Roozendaal, Kees E.P., Schrander-Stumpel, Constance T.R.M., Curfs, Leopold M.G.

Get full text

BRCA1 c.4987-3C>G is a pathogenic mutation by Brandão, Rita D., van Roozendaal, Kees E. P., Tserpelis, Demis, Caanen, Beppy, García, Encarna Gómez, Blok, Marinus J.

Get full text

POU5F1 (OCT3/4) identifies cells with pluripotent potential in human germ cell tumors by LOOIJENGA, Leendert H. J, STOOP, Hans, HONECKER, Friedemann, BOKEMEYER, Carsten, PERLMAN, Elizabeth J, SCHNEIDER, Dominik T, KONONEN, Juha, SAUTER, Guido, OOSTERHUIS, J. Wolter, DE LEEUW, Hubert P. J. C, DE GOUVEIA BRAZAO, Carlos A, GILLIS, Ad J. M, VAN ROOZENDAAL, Kees E. P, VAN ZOELEN, Everardus J. J, WEBER, Rob F. A, WOLFFENBUTTEL, Katja P, VAN DEKKEN, Herman

Get full text

Different distribution of the genetic subtypes of the Prader-Willi syndrome in the elderly by Sinnema, Margje, van Roozendaal, Kees E P, Maaskant, Marian A, Smeets, Hubert J M, Engelen, John J M, Jonker-Houben, Nieke, Schrander-Stumpel, Constance T R M, Curfs, Leopold M G

Get full text

Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females ( MECP2) by Moog, Ute, Smeets, Eric EJ, van Roozendaal, Kees EP, Schoenmakers, Sam, Herbergs, Jos, Schoonbrood-Lenssen, Anneke MJ, Schrander-Stumpel, Connie TRM

Get full text

Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer by Gaudet, Mia M, Kirchhoff, Tomas, Green, Todd, Vijai, Joseph, Korn, Joshua M, Guiducci, Candace, Segrè, Ayellet V, McGee, Kate, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M, Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Gauthier-Villars, Marion, Sobol, Hagay, Longy, Michel, Frenay, Marc, GEMO Study Collaborators, Hogervorst, Frans B L, Rookus, Matti A, Collée, J Margriet, Hoogerbrugge, Nicoline, van Roozendaal, Kees E P, Piedmonte, Marion, Rubinstein, Wendy, Nerenstone, Stacy, Van Le, Linda, Blank, Stephanie V, Caldés, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Arason, Adalgeir, Johannsson, Oskar T, Barkardottir, Rosa B, Devilee, Peter, Olopade, Olofunmilayo I, Neuhausen, Susan L, Wang, Xianshu, Fredericksen, Zachary S, Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Viel, Alessandra, Radice, Paolo, Phelan, Catherine M, Narod, Steven, Rennert, Gad, Lejbkowicz, Flavio, Flugelman, Anath, Andrulis, Irene L, Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda E, Montagna, Marco, D'Andrea, Emma, Friedman, Eitan, Laitman, Yael, Borg, Ake, Beattie, Mary, Ramus, Susan J, Domchek, Susan M, Nathanson, Katherine L, Rebbeck, Tim, Spurdle, Amanda B, Chen, Xiaoqing, Holland, Helene, John, Esther M, Hopper, John L, Buys, Saundra S, Daly, Mary B, Southey, Melissa C, Terry, Mary Beth, Tung, Nadine, Overeem Hansen, Thomas V, Nielsen, Finn C, Greene, Mark H, Greene, Mark I, Mai, Phuong L, Osorio, Ana, Durán, Mercedes, Andres, Raquel, Benítez, Javier, Weitzel, Jeffrey N, Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Platte, Radka, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Walker, Lisa

Get full text

Correction: Common Genetic Variants and Modification of Penetrance of -Associated Breast Cancer by Mia M. Gaudet, Tomas Kirchhoff, Todd Green, Joseph Vijai, Joshua M. Korn, Candace Guiducci, Ayellet V. Segrè, Kate McGee, Lesley McGuffog, Christiana Kartsonaki, Jonathan Morrison, Sue Healey, Olga M. Sinilnikova, Dominique Stoppa-Lyonnet, Sylvie Mazoyer, Marion Gauthier-Villars, Hagay Sobol, Michel Longy, Marc Frenay, GEMO Study Collaborators, Frans B. L. Hogervorst, Matti A. Rookus, J. Margriet Collée, Nicoline Hoogerbrugge, Kees E. P. van Roozendaal, Marion Piedmonte, Wendy Rubinstein, Stacy Nerenstone, Linda Van Le, Stephanie V. Blank, Trinidad Caldés, Miguel de la Hoya, Heli Nevanlinna, Kristiina Aittomäki, Conxi Lazaro, Ignacio Blanco, Adalgeir Arason, Oskar T. Johannsson, Rosa B. Barkardottir, Peter Devilee, Olofunmilayo I. Olopade, Susan L. Neuhausen, Xianshu Wang, Zachary S. Fredericksen, Paolo Peterlongo, Siranoush Manoukian, Monica Barile, Alessandra Viel, Paolo Radice, Catherine M. Phelan, Steven Narod, Gad Rennert, Flavio Lejbkowicz, Anath Flugelman, Irene L. Andrulis, Gord Glendon, Hilmi Ozcelik, Amanda E. Toland, Marco Montagna, Emma D'Andrea, Eitan Friedman, Yael Laitman, Ake Borg, Mary Beattie, Susan J. Ramus, Susan M. Domchek, Katherine L. Nathanson, Tim Rebbeck, Amanda B. Spurdle, Xiaoqing Chen, Helene Holland, Esther M. John, John L. Hopper, Saundra S. Buys, Mary B. Daly, Melissa C. Southey, Mary Beth Terry, Nadine Tung, Thomas V. Overeem Hansen, Finn C. Nielsen, Mark H. Greene, Phuong L. Mai, Ana Osorio, Mercedes Durán, Raquel Andres, Javier Benítez, Jeffrey N. Weitzel, Judy Garber, Ute Hamann, Susan Peock, Margaret Cook, Clare Oliver, Debra Frost, Radka Platte, D. Gareth Evans, Fiona Lalloo, Ros Eeles, Louise Izatt, Lisa Walker, Jacqueline Eason

Get full text

Correction: Common Genetic Variants and Modification of Penetrance of -Associated Breast Cancer by Mia M. Gaudet, Tomas Kirchhoff, Todd Green, Joseph Vijai, Joshua M. Korn, Candace Guiducci, Ayellet V. Segrè, Kate McGee, Lesley McGuffog, Christiana Kartsonaki, Jonathan Morrison, Sue Healey, Olga M. Sinilnikova, Dominique Stoppa-Lyonnet, Sylvie Mazoyer, Marion Gauthier-Villars, Hagay Sobol, Michel Longy, Marc Frenay, GEMO Study Collaborators, Frans B. L. Hogervorst, Matti A. Rookus, J. Margriet Collée, Nicoline Hoogerbrugge, Kees E. P. van Roozendaal, Marion Piedmonte, Wendy Rubinstein, Stacy Nerenstone, Linda Van Le, Stephanie V. Blank, Trinidad Caldés, Miguel de la Hoya, Heli Nevanlinna, Kristiina Aittomäki, Conxi Lazaro, Ignacio Blanco, Adalgeir Arason, Oskar T. Johannsson, Rosa B. Barkardottir, Peter Devilee, Olofunmilayo I. Olopade, Susan L. Neuhausen, Xianshu Wang, Zachary S. Fredericksen, Paolo Peterlongo, Siranoush Manoukian, Monica Barile, Alessandra Viel, Paolo Radice, Catherine M. Phelan, Steven Narod, Gad Rennert, Flavio Lejbkowicz, Anath Flugelman, Irene L. Andrulis, Gord Glendon, Hilmi Ozcelik, Amanda E. Toland, Marco Montagna, Emma D'Andrea, Eitan Friedman, Yael Laitman, Ake Borg, Mary Beattie, Susan J. Ramus, Susan M. Domchek, Katherine L. Nathanson, Tim Rebbeck, Amanda B. Spurdle, Xiaoqing Chen, Helene Holland, Esther M. John, John L. Hopper, Saundra S. Buys, Mary B. Daly, Melissa C. Southey, Mary Beth Terry, Nadine Tung, Thomas V. Overeem Hansen, Finn C. Nielsen, Mark I. Greene, Phuong L. Mai, Ana Osorio, Mercedes Durán, Raquel Andres, Javier Benítez, Jeffrey N. Weitzel, Judy Garber, Ute Hamann, Susan Peock, Margaret Cook, Clare Oliver, Debra Frost, Radka Platte, D. Gareth Evans, Fiona Lalloo, Ros Eeles, Louise Izatt, Lisa Walker, Jacqueline Eason

Get full text

Urokinase‐type‐plasminogen‐activator(UPA) production by human breast (myo)fibroblasts in vitro: Influence of transforming growth factor‐β1 (TGFβ1) compared with factor(s) released... by Sieuwerts, Anieta M., Klijn, Jan G. M., Henzen‐Logmans, Sonja C., Bouwman, Ivo, Van Roozendaal, Kees E. P., Peters, Harry A., Setyono‐Han, Buddy, Foekens, John A.

Get full text

Urokinase-type-plasminogen-activator(UPA) production by human breast (myo)fibroblastsin vitro: Influence of transforming growth factor-β1 (TGFβ1) compared with factor(s) released b... by Sieuwerts, Anieta M., Klijn, Jan G. M., Henzen-Logmans, Sonja C., Bouwman, Ivo, Van Roozendaal, Kees E. P., Peters, Harry A., Setyono-Han, Buddy, Foekens, John A.

Get full text

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis by Vorsteveld, Emil E., Van der Made, Caspar I., Smeekens, Sanne P., Schuurs-Hoeijmakers, Janneke H., Astuti, Galuh, Diepstra, Heleen, Gilissen, Christian, Hoenselaar, Evelien, Janssen, Alice, van Roozendaal, Kees, Engelen, Jettie Sikkema-van, Steyaert, Wouter, Weiss, Marjan M., Yntema, Helger G., Mantere, Tuomo, AlZahrani, Mofareh S., van Aerde, Koen, Derfalvi, Beata, Faqeih, Eissa Ali, Henriet, Stefanie S.V., van Hoof, Elise, Idressi, Eman, Issekutz, Thomas B., Jongmans, Marjolijn C.J., Keski-Filppula, Riikka, Krapels, Ingrid, te Loo, Maroeska, Mulders-Manders, Catharina M., ten Oever, Jaap, Potjewijd, Judith, Sarhan, Nora Tarig, Slot, Marjan C., Terhal, Paulien A., Thijs, Herman, Vandersteen, Anthony, Vanhoutte, Els K., van de Veerdonk, Frank, van Well, Gijs, Netea, Mihai G., Arts, Rob J.W., Bijker, Else M., Bruno, Mariolina, Hobo, Willemijn, Hoppenreijs, Esther, de Jonge, Marien I., van Laarhoven, Arjan, van der Molen, Renate, Oud, Manon, Schatorje, Ellen J.H., Smeets, Ruben, Sprenkeler, Evelien G.G., Stol, Kim, Verhagen, Lilly M., Zonneveld-Huijssoon, Evelien, Simons, Annet, Hoischen, Alexander

Get full text

MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients by Moog, Ute, Roozendaal, Kees Van, Smeets, Eric, Tserpelis, Demis, Devriendt, Koen, Buggenhout, Griet Van, Frijns, Jean-Pierre, Schrander-Stumpel, Connie

Get full text