Zebrafish: A Model Organism for Studying Enteric Nervous System Development and Disease

gan Kuil, Laura E., Chauhan, Rajendra K., Cheng, William W., Hofstra, Robert M. W., Alves, Maria M.
Cyhoeddwyd yn Front Cell Dev Biol (2021)

Mutations in SCG10 Are Not Involved in Hirschsprung Disease

gan Alves, Maria M. M., Osinga, Jan, Verheij, Joke B. G. M., Metzger, Marco, Eggen, Bart J. L., Hofstra, Robert M. W.
Cyhoeddwyd 2010

Co‐cultivation of Thermoanaerobacter strains with a methanogenic partner enhances glycerol conversion

gan Magalhães, Carla Pereira, Ribeiro, Joaquim A., Guedes, Ana P., Arantes, Ana L., Sousa, Diana Z., Stams, Alfons J. M., Alves, Maria M., Cavaleiro, Ana Júlia
Cyhoeddwyd yn Microb Biotechnol (2020)

PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex

gan Alves, Maria M., Fuhler, Gwenny M., Queiroz, Karla C.S., Scholma, Jetse, Goorden, Susan, Anink, Jasper, Arnold Spek, C., Hoogeveen-Westerveld, Marianne, Bruno, Marco J., Nellist, Mark, Elgersma, Ype, Aronica, Eleonora, Peppelenbosch, Maikel P.
Cyhoeddwyd yn Sci Rep (2015)

Dichotomy in Hedgehog Signaling between Human Healthy Vessel and Atherosclerotic Plaques

gan Queiroz, Karla C S, Bijlsma, Maarten F, Tio, René A, Zeebregts, Clark J, Dunaeva, Marina, Ferreira, Carmen V, Fuhler, Gwenny M, Kuipers, Ernst J, Alves, Maria M, Rezaee, Farhad, Spek, C Arnold, Peppelenbosch, Maikel P
Cyhoeddwyd 2012

KBP interacts with SCG10, linking Goldberg–Shprintzen syndrome to microtubule dynamics and neuronal differentiation

gan Alves, Maria M., Burzynski, Grzegorz, Delalande, Jean-Marie, Osinga, Jan, van der Goot, Annemieke, Dolga, Amalia M., de Graaff, Esther, Brooks, Alice S., Metzger, Marco, Eisel, Ulrich L.M., Shepherd, Iain, Eggen, Bart J.L., Hofstra, Robert M.W.
Cyhoeddwyd yn Hum Mol Genet (2010)

Genetic screening of Congenital Short Bowel Syndrome patients confirms CLMP as the major gene involved in the recessive form of this disorder

gan Alves, Maria M, Halim, Danny, Maroofian, Reza, de Graaf, Bianca M, Rooman, Raoul, van der Werf, Christine S, Van de Vijver, Els, Mehrjardi, Mohammad YV, Aflatoonian, Majid, Chioza, Barry A, Baple, Emma L, Dehghani, Mohammadreza, Crosby, Andrew H, Hofstra, Robert MW
Cyhoeddwyd yn Eur J Hum Genet (2016)

Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

gan Halim, Danny, Brosens, Erwin, Muller, Françoise, Wangler, Michael F., Beaudet, Arthur L., Lupski, James R., Akdemir, Zeynep H. Coban, Doukas, Michael, Stoop, Hans J., de Graaf, Bianca M., Brouwer, Rutger W.W., van Ijcken, Wilfred F.J., Oury, Jean-François, Rosenblatt, Jonathan, Burns, Alan J., Tibboel, Dick, Hofstra, Robert M.W., Alves, Maria M.
Cyhoeddwyd yn Am J Hum Genet (2017)

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

gan 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.
Cyhoeddwyd yn Hum Mutat (2020)

Loss of LMOD1 impairs smooth muscle cytocontractility and causes megacystis microcolon intestinal hypoperistalsis syndrome in humans and mice

gan Halim, Danny, Wilson, Michael P., Oliver, Daniel, Brosens, Erwin, Verheij, Joke B. G. M., Han, Yu, Nanda, Vivek, Lyu, Qing, Doukas, Michael, Stoop, Hans, Brouwer, Rutger W. W., van IJcken, Wilfred F. J., Slivano, Orazio J., Burns, Alan J., Christie, Christine K., de Mesy Bentley, Karen L., Brooks, Alice S., Tibboel, Dick, Xu, Suowen, Jin, Zheng Gen, Djuwantono, Tono, Yan, Wei, Alves, Maria M., Hofstra, Robert M. W., Miano, Joseph M.
Cyhoeddwyd yn Proc Natl Acad Sci U S A (2017)