A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?

por Brusse, Esther, Majoor-Krakauer, Danielle, de Graaf, Bianca M., Visser, Gerhard H., Swagemakers, Sigrid, Boon, Agnita J.W., Oostra, Ben A., Bertoli-Avella, Aida M.
Publicado 2009

A genome search for primary vesicoureteral reflux shows further evidence for genetic heterogeneity

por Conte, Maria Luisa, Bertoli-Avella, Aida M., de Graaf, Bianca M., Punzo, Francesca, Lama, Giuliana, La Manna, Angela, Grassia, Carolina, Rambaldi, Pier Francesco, Oostra, Ben A., Perrotta, Silverio
Publicado 2008

TFAP2B Haploinsufficiency Impacts Gastrointestinal Function and Leads to Pediatric Intestinal Pseudo-obstruction

por Zada, Almira, Kuil, Laura E., de Graaf, Bianca M., Kakiailatu, Naomi, Windster, Jonathan D., Brooks, Alice S., van Slegtenhorst, Marjon, de Koning, Barbara, Wijnen, René M. H., Melotte, Veerle, Hofstra, Robert M. W., Brosens, Erwin, Alves, Maria M.
Publicado 2022

Intrinsic Cellular Susceptibility to Barrett’s Esophagus in Adults Born with Esophageal Atresia

por ten Kate, Chantal A., de Klein, Annelies, de Graaf, Bianca M., Doukas, Michail, Koivusalo, Antti, Pakarinen, Mikko P., van der Helm, Robert, Brands, Tom, IJsselstijn, Hanneke, van Bever, Yolande, Wijnen, René M.H., Spaander, Manon C.W., Brosens, Erwin
Publicado 2022

The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction

por Zada, Almira, Zhao, Yuying, Halim, Danny, Windster, Jonathan, van der Linde, Herma C, Glodener, Jackleen, Overkleeft, Sander, de Graaf, Bianca M, Verdijk, Robert M, Brooks, Alice S, Shepherd, Iain, Gao, Ya, Burns, Alan J, Hofstra, Robert M W, Alves, Maria M
Publicado 2022

Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP

por MacKenzie, Katherine C., de Graaf, Bianca M., Syrimis, Andreas, Zhao, Yuying, Brosens, Erwin, Mancini, Grazia M. S., Schot, Rachel, Halley, Dicky, Wilke, Martina, Vøllo, Arve, Flinter, Frances, Green, Andrew, Mansour, Sahar, Pilch, Jacek, Stark, Zornitza, Zamba‐Papanicolaou, Eleni, Christophidou‐Anastasiadou, Violetta, Hofstra, Robert M. W., Jongbloed, Jan D. H., Nicolaou, Nayia, Tanteles, George A., Brooks, Alice S., Alves, Maria M.
Publicado 2020

The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model

por MacKenzie, Katherine C., Garritsen, Rhiana, Chauhan, Rajendra K., Sribudiani, Yunia, de Graaf, Bianca M., Rugenbrink, Tim, Brouwer, Rutger, van Ijcken, Wilfred F. J., de Blaauw, Ivo, Brooks, Alice S., Sloots, Cornelius E. J., Meeuwsen, Conny J. H. M., Wijnen, René M., Newgreen, Donald F., Burns, Alan J., Hofstra, Robert M. W., Alves, Maria M., Brosens, Erwin
Publicado 2021

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development

por Kuil, Laura E., MacKenzie, Katherine C., Tang, Clara S., Windster, Jonathan D., Le, Thuy Linh, Karim, Anwarul, de Graaf, Bianca M., van der Helm, Robert, van Bever, Yolande, Sloots, Cornelius E. J., Meeussen, Conny, Tibboel, Dick, de Klein, Annelies, Wijnen, René M. H., Amiel, Jeanne, Lyonnet, Stanislas, Garcia-Barcelo, Maria-Mercè, Tam, Paul K. H., Alves, Maria M., Brooks, Alice S., Hofstra, Robert M. W., Brosens, Erwin
Publicado 2021

Mutations in a TGF-β Ligand, TGFB3, Cause Syndromic Aortic Aneurysms and Dissections

por Bertoli-Avella, Aida M., Gillis, Elisabeth, Morisaki, Hiroko, Verhagen, Judith M.A., de Graaf, Bianca M., van de Beek, Gerarda, Gallo, Elena, Kruithof, Boudewijn P.T., Venselaar, Hanka, Myers, Loretha A., Laga, Steven, Doyle, Alexander J., Oswald, Gretchen, van Cappellen, Gert W.A., Yamanaka, Itaru, van der Helm, Robert M., Beverloo, Berna, de Klein, Annelies, Pardo, Luba, Lammens, Martin, Evers, Christina, Devriendt, Koenraad, Dumoulein, Michiel, Timmermans, Janneke, Bruggenwirth, Hennie T., Verheijen, Frans, Rodrigus, Inez, Baynam, Gareth, Kempers, Marlies, Saenen, Johan, Van Craenenbroeck, Emeline M., Minatoya, Kenji, Matsukawa, Ritsu, Tsukube, Takuro, Kubo, Noriaki, Hofstra, Robert, Goumans, Marie Jose, Bekkers, Jos A., Roos-Hesselink, Jolien W., van de Laar, Ingrid M.B.H., Dietz, Harry C., Van Laer, Lut, Morisaki, Takayuki, Wessels, Marja W., Loeys, Bart L.
Publicado 2015