Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up

Por Huffnagel, Irene C., Redeker, Egbert J. W., Reneman, Liesbeth, Vaz, Frédéric M., Ferdinandusse, Sacha, Poll-The, Bwee Tien
Publicado no JIMD Rep (2017)

Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders

Por Redeker, Egbert J.W., de Visser, Annette S.H., Bergen, Arthur A.B., Mannens, Marcel M.A.M.
Publicado em 2008

With expanded carrier screening, founder populations run the risk of being overlooked

Por Mathijssen, Inge B., van Maarle, Merel C., Kleiss, Iris I.M., Redeker, Egbert J.W., ten Kate, Leo P., Henneman, Lidewij, Meijers-Heijboer, Hanne
Publicado no J Community Genet (2017)

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome

Por de Graaf, Michael, Kant, Sarina G, Wit, Jan Maarten, Redeker, Egbert Johan Willem, Santen, Gijs Willem Eduard, Verkerk, Annemieke Johanna Maria Henriëtta, Uitterlinden, André Gerardus, Losekoot, Monique, Oostdijk, Wilma
Publicado no J Clin Res Pediatr Endocrinol (2017)

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 no Fam Cancer (2016)

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Por Rump, Patrick, Jazayeri, Omid, van Dijk-Bos, Krista K., Johansson, Lennart F., van Essen, Anthonie J., Verheij, Johanna B. G. M., Veenstra-Knol, Hermine E., Redeker, Egbert J. W., Mannens, Marcel M. A. M., Swertz, Morris A., Alizadeh, Behrooz Z., van Ravenswaaij-Arts, Conny M. A., Sinke, Richard J., Sikkema-Raddatz, Birgit
Publicado no BMC Med Genomics (2016)

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

Por Kline, Antonie D., Moss, Joanna F., Selicorni, Angelo, Bisgaard, Anne-Marie, Deardorff, Matthew A., Gillett, Peter M., Ishman, Stacey L., Kerr, Lynne M., Levin, Alex V., Mulder, Paul A., Ramos, Feliciano J., Wierzba, Jolanta, Ajmone, Paola Francesca, Axtell, David, Blagowidow, Natalie, Cereda, Anna, Costantino, Antonella, Cormier-Daire, Valerie, FitzPatrick, David, Grados, Marco, Groves, Laura, Guthrie, Whitney, Huisman, Sylvia, Kaiser, Frank J., Koekkoek, Gerritjan, Levis, Mary, Mariani, Milena, McCleery, Joseph P., Menke, Leonie A., Metrena, Amy, O’Connor, Julia, Oliver, Chris, Pie, Juan, Piening, Sigrid, Potter, Carol J., Quaglio, Ana L., Redeker, Egbert, Richman, David, Rigamonti, Claudia, Shi, Angell, Tümer, Zeynep, Van Balkom, Ingrid D. C., Hennekam, Raoul C.
Publicado no Nat Rev Genet (2018)

HIGH COLORECTAL AND LOW ENDOMETRIAL CANCER RISK IN EPCAM DELETION-POSITIVE LYNCH SYNDROME: A COHORT STUDY

Por Kempers, Marlies JE, Kuiper, Roland P, Ockeloen, Charlotte W, Chappuis, Pierre O, Hutter, Pierre, Rahner, Nils, Schackert, Hans K, Steinke, Verena, Holinski-Feder, Elke, Morak, Monika, Kloor, Matthias, Büttner, Reinhard, Verwiel, Eugene TP, van Krieken, J. Han, Nagtegaal, Iris D, Goossens, Monique, van der Post, Rachel S., Niessen, Renée C, Sijmons, Rolf H, Kluijt, Irma, Hogervorst, Frans BL, Leter, Edward M, Gille, Johan JP, Aalfs, Cora M, Redeker, Egbert JW, Hes, Frederik J, Tops, Carli MJ, van Nesselrooij, Bernadette PM, van Gijn, Marielle E, García, Encarna B Gómez, Eccles, Diana M, Bunyan, David J, Syngal, Sapna, Stoffel, Elena M, Culver, Julie O, Palomares, Melanie R, Graham, Tracy, Velsher, Lea, Papp, Janos, Oláh, Edith, Chan, Tsun L, Leung, Suet Y, van Kessel, Ad Geurts, Kiemeney, Lambertus ALM, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn JL
Publicado em 2010

Cancer Risks for PMS2-Associated Lynch Syndrome

Por ten Broeke, Sanne W., van der Klift, Heleen M., Tops, Carli M.J., Aretz, Stefan, Bernstein, Inge, Buchanan, Daniel D., de la Chapelle, Albert, Capella, Gabriel, Clendenning, Mark, Engel, Christoph, Gallinger, Steven, Gomez Garcia, Encarna, Figueiredo, Jane C., Haile, Robert, Hampel, Heather L., van Hest, Liselotte, Hopper, John L., Hoogerbrugge, Nicoline, von Knebel Doeberitz, Magnus, Le Marchand, Loic, Letteboer, Tom G.W., Jenkins, Mark A., Lindblom, Annika, Lindor, Noralane M., Mensenkamp, Arjen R., Møller, Pål, Newcomb, Polly A., van Os, Theo A.M., Pearlman, Rachel, Pineda, Marta, Rahner, Nils, Redeker, Egbert J.W., Olderode-Berends, Maran J.W., Rosty, Christophe, Schackert, Hans K., Scott, Rodney, Senter, Leigha, Spruijt, Liesbeth, Steinke-Lange, Verena, Suerink, Manon, Thibodeau, Stephen, Vos, Yvonne J., Wagner, Anja, Winship, Ingrid, Hes, Frederik J., Vasen, Hans F.A., Wijnen, Juul T., Nielsen, Maartje, Win, Aung Ko
Publicado no J Clin Oncol (2018)

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Por Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R
Publicado em 2014