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

por Kuil, Laura E., Chauhan, Rajendra K., Cheng, William W., Hofstra, Robert M. W., Alves, Maria M.
Publicado 2021

C. elegans Model Identifies Genetic Modifiers of α-Synuclein Inclusion Formation During Aging

por van Ham, Tjakko J., Thijssen, Karen L., Breitling, Rainer, Hofstra, Robert M. W., Plasterk, Ronald H. A., Nollen, Ellen A. A.
Publicado 2008

Mutations in SCG10 Are Not Involved in Hirschsprung Disease

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

A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa

por van den Akker, Peter C., Pasmooij, Anna M. G., Joenje, Hans, Hofstra, Robert M. W., te Meerman, Gerard J., Jonkman, Marcel F.
Publicado 2018

CLMP Is Essential for Intestinal Development, but Does Not Play a Key Role in Cellular Processes Involved in Intestinal Epithelial Development

por van der Werf, Christine S., Hsiao, Nai-Hua, Conroy, Siobhan, Paredes, Joana, Ribeiro, Ana S., Sribudiani, Yunia, Seruca, Raquel, Hofstra, Robert M. W., Westers, Helga, van IJzendoorn, Sven C. D.
Publicado 2013

Screening for germline DND1 mutations in testicular cancer patients

por Sijmons, Rolf H., Vos, Yvonne J., Herkert, Johanna C., Bos, Krista K., Holzik, Martijn F. Lutke, Hoekstra-Weebers, Josette E. H. M., Hofstra, Robert M. W., Hoekstra, Harald J.
Publicado 2010

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity

por Houlleberghs, Hellen, Goverde, Anne, Lusseveld, Jarnick, Dekker, Marleen, Bruno, Marco J., Menko, Fred H., Mensenkamp, Arjen R., Spaander, Manon C. W., Wagner, Anja, Hofstra, Robert M. W., te Riele, Hein
Publicado 2017

Unbiased characterization of the larval zebrafish enteric nervous system at a single cell transcriptomic level

por Kuil, Laura E., Kakiailatu, Naomi J.M., Windster, Jonathan D., Bindels, Eric, Zink, Joke T.M., van der Zee, Gaby, Hofstra, Robert M.W., Shepherd, Iain T., Melotte, Veerle, Alves, Maria M.
Publicado 2023

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism

por Bongaerts, Michiel, Bonte, Ramon, Demirdas, Serwet, Jacobs, Edwin H., Oussoren, Esmee, van der Ploeg, Ans T., Wagenmakers, Margreet A. E. M., Hofstra, Robert M. W., Blom, Henk J., Reinders, Marcel J. T., Ruijter, George J. G.
Publicado 2020

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

Chromosome 21 Scan in Down Syndrome Reveals DSCAM as a Predisposing Locus in Hirschsprung Disease

por Jannot, Anne-Sophie, Pelet, Anna, Henrion-Caude, Alexandra, Chaoui, Asma, Masse-Morel, Marine, Arnold, Stacey, Sanlaville, Damien, Ceccherini, Isabella, Borrego, Salud, Hofstra, Robert M. W., Munnich, Arnold, Bondurand, Nadège, Chakravarti, Aravinda, Clerget-Darpoux, Françoise, Amiel, Jeanne, Lyonnet, Stanislas
Publicado 2013

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

por 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.
Publicado 2010

Survival-Related Profile, Pathways, and Transcription Factors in Ovarian Cancer

por Crijns, Anne P. G, Fehrmann, Rudolf S. N, de Jong, Steven, Gerbens, Frans, Meersma, Gert Jan, Klip, Harry G, Hollema, Harry, Hofstra, Robert M. W, te Meerman, Gerard J., de Vries, Elisabeth G. E, van der Zee, Ate G. J
Publicado 2009

Evidence Based Selection of Housekeeping Genes

por de Jonge, Hendrik J. M., Fehrmann, Rudolf S. N., de Bont, Eveline S. J. M., Hofstra, Robert M. W., Gerbens, Frans, Kamps, Willem A., de Vries, Elisabeth G. E., van der Zee, Ate G. J., te Meerman, Gerard J., ter Elst, Arja
Publicado 2007

Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development

por Baardman, Maria E., Zwier, Mathijs V., Wisse, Lambertus J., Gittenberger-de Groot, Adriana C., Kerstjens-Frederikse, Wilhelmina S., Hofstra, Robert M. W., Jurdzinski, Angelika, Hierck, Beerend P., Jongbloed, Monique R. M., Berger, Rolf M. F., Plösch, Torsten, DeRuiter, Marco C.
Publicado 2016

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

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

por Kerstjens-Frederikse, Wilhelmina S, Bongers, Ernie M H F, Roofthooft, Marcus T R, Leter, Edward M, Douwes, J Menno, Van Dijk, Arie, Vonk-Noordegraaf, Anton, Dijk-Bos, Krista K, Hoefsloot, Lies H, Hoendermis, Elke S, Gille, Johan J P, Sikkema-Raddatz, Birgit, Hofstra, Robert M W, Berger, Rolf M F
Publicado 2013

ERNICA guidelines for the management of rectosigmoid Hirschsprung’s disease

por Kyrklund, Kristiina, Sloots, Cornelius E. J., de Blaauw, Ivo, Bjørnland, Kristin, Rolle, Udo, Cavalieri, Duccio, Francalanci, Paola, Fusaro, Fabio, Lemli, Annette, Schwarzer, Nicole, Fascetti-Leon, Francesco, Thapar, Nikhil, Johansen, Lars Søndergaard, Berrebi, Dominique, Hugot, Jean-Pierre, Crétolle, Célia, Brooks, Alice S., Hofstra, Robert M., Wester, Tomas, Pakarinen, Mikko P.
Publicado 2020

TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human

por Delalande, Jean Marie, Nagy, Nandor, McCann, Conor J., Natarajan, Dipa, Cooper, Julie E., Carreno, Gabriela, Dora, David, Campbell, Alison, Laurent, Nicole, Kemos, Polychronis, Thomas, Sophie, Alby, Caroline, Attié-Bitach, Tania, Lyonnet, Stanislas, Logan, Malcolm P., Goldstein, Allan M., Davey, Megan G., Hofstra, Robert M. W., Thapar, Nikhil, Burns, Alan J.
Publicado 2021

Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human

por Delalande, Jean Marie, Nagy, Nandor, McCann, Conor J., Natarajan, Dipa, Cooper, Julie E., Carreno, Gabriela, Dora, David, Campbell, Alison, Laurent, Nicole, Kemos, Polychronis, Thomas, Sophie, Alby, Caroline, Attié-Bitach, Tania, Lyonnet, Stanislas, Logan, Malcolm P., Goldstein, Allan M., Davey, Megan G., Hofstra, Robert M. W., Thapar, Nikhil, Burns, Alan J.
Publicado 2022