Current insights into renal ciliopathies: what can genetics teach us?

Por Arts, Heleen H., Knoers, Nine V. A. M.
Publicado em 2012

Rare inherited kidney diseases: challenges, opportunities, and perspectives

Por Devuyst, Olivier, Knoers, Nine V A M, Remuzzi, Giuseppe, Schaefer, Franz
Publicado em 2014

Intracellular activation of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus by nonpeptide agonists

Por Robben, Joris H., Kortenoeven, Marleen L. A., Sze, Mozes, Yae, Chris, Milligan, Graeme, Oorschot, Viola M., Klumperman, Judith, Knoers, Nine V. A. M., Deen, Peter M. T.
Publicado em 2009

Design and Validation of a Conformation Sensitive Capillary Electrophoresis-Based Mutation Scanning System and Automated Data Analysis of the More than 15 kbp-Spanning Coding Seque...

Por Vermeer, Sascha, Meijer, Rowdy P.P., Hofste, Tom G.J., Bodmer, Daniëlle, Bosgoed, Ermanno A.J., Cremers, Frans P.M., Kremer, Berry H.P., Knoers, Nine V.A.M., Scheffer, Hans
Publicado em 2009

In Vivo Expression of Putative LMX1B Targets in Nail-Patella Syndrome Kidneys

Por Heidet, Laurence, Bongers, Ernie M. H. F., Sich, Mireille, Zhang, Shao-Yu, Loirat, Chantal, Meyrier, Alain, Broyer, Michel, Landthaler, Gérard, Faller, Bernadette, Sado, Yoshikazu, Knoers, Nine V. A. M., Gubler, Marie-Claire
Publicado em 2003

Exploration of gene-environment interactions, maternal effects, and parent-of-origin effects in the etiology of hypospadias

Por van der Zanden, Loes F.M., Galesloot, Tessel E., Feitz, Wout F.J., Brouwers, Marijn M., Shi, Min, Knoers, Nine V.A.M., Franke, Barbara, Roeleveld, Nel, van Rooij, Iris A.L.M.
Publicado em 2012

TRPC6 Single Nucleotide Polymorphisms and Progression of Idiopathic Membranous Nephropathy

Por Hofstra, Julia M., Coenen, Marieke J. H., Schijvenaars, Mascha M. V. A. P., Berden, Jo H. M., van der Vlag, Johan, Hoefsloot, Lies H., Knoers, Nine V. A. M., Wetzels, Jack F. M., Nijenhuis, Tom
Publicado em 2014

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

Por Vermeer, Sascha, Meijer, Rowdy P. P., Pijl, Benjamin J., Timmermans, Janneke, Cruysberg, Johannes R. M., Bos, Maaike M., Schelhaas, Helenius J., van de Warrenburg, Bart. P. C., Knoers, Nine V. A. M., Scheffer, Hans, Kremer, Berry
Publicado em 2008

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

Por Vermeer, Sascha, Meijer, Rowdy P. P., Pijl, Benjamin J., Timmermans, Janneke, Cruysberg, Johannes R. M., Bos, Maaike M., Schelhaas, Helenius J., van de Warrenburg, Bart. P. C., Knoers, Nine V. A. M., Scheffer, Hans, Kremer, Berry
Publicado no Neurogenetics (2008)

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Por Gilissen, Christian, Arts, Heleen H., Hoischen, Alexander, Spruijt, Liesbeth, Mans, Dorus A., Arts, Peer, van Lier, Bart, Steehouwer, Marloes, van Reeuwijk, Jeroen, Kant, Sarina G., Roepman, Ronald, Knoers, Nine V.A.M., Veltman, Joris A., Brunner, Han G.
Publicado em 2010

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

Por Bongers, Ernie M. H. F., Duijf, Pascal H. G., van Beersum, Sylvia E. M., Schoots, Jeroen, van Kampen, Albert, Burckhardt, Andreas, Hamel, Ben C. J., Lošan, František, Hoefsloot, Lies H., Yntema, Helger G., Knoers, Nine V. A. M., van Bokhoven, Hans
Publicado em 2004

Wnt5a Deficiency Leads to Anomalies in Ureteric Tree Development, Tubular Epithelial Cell Organization and Basement Membrane Integrity Pointing to a Role in Kidney Collecting Duct...

Por Pietilä, Ilkka, Prunskaite-Hyyryläinen, Renata, Kaisto, Susanna, Tika, Elisavet, van Eerde, Albertien M., Salo, Antti M., Garma, Leonardo, Miinalainen, Ilkka, Feitz, Wout F., Bongers, Ernie M. H. F., Juffer, André, Knoers, Nine V. A. M., Renkema, Kirsten Y., Myllyharju, Johanna, Vainio, Seppo J.
Publicado no PLoS One (2016)

Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome

Por Nicolaou, Nayia, Margadant, Coert, Kevelam, Sietske H., Lilien, Marc R., Oosterveld, Michiel J.S., Kreft, Maaike, van Eerde, Albertien M., Pfundt, Rolph, Terhal, Paulien A., van der Zwaag, Bert, Nikkels, Peter G.J., Sachs, Norman, Goldschmeding, Roel, Knoers, Nine V.A.M., Renkema, Kirsten Y., Sonnenberg, Arnoud
Publicado em 2012

CNNM2, Encoding a Basolateral Protein Required for Renal Mg(2+) Handling, Is Mutated in Dominant Hypomagnesemia

Por Stuiver, Marchel, Lainez, Sergio, Will, Constanze, Terryn, Sara, Günzel, Dorothee, Debaix, Huguette, Sommer, Kerstin, Kopplin, Kathrin, Thumfart, Julia, Kampik, Nicole B., Querfeld, Uwe, Willnow, Thomas E., Němec, Vladimír, Wagner, Carsten A., Hoenderop, Joost G., Devuyst, Olivier, Knoers, Nine V.A.M., Bindels, René J., Meij, Iwan C., Müller, Dominik
Publicado em 2011

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA binding site mutations

Por Campagna, Dean R., de Bie, Charlotte I., Schmitz-Abe, Klaus, Sweeney, Marion, Sendamarai, Anoop K., Schmidt, Paul J., Heeney, Matthew M., Yntema, Helger G., Kannengiesser, Caroline, Grandchamp, Bernard, Niemeyer, Charlotte M., Knoers, Nine V.A.M., Swart, Sonia, Marron, Gordon, van Wijk, Richard, Raymakers, Reinier A., May, Alison, Markianos, Kyriacos, Bottomley, Sylvia S., Swinkels, Dorine W., Fleming, Mark D.
Publicado em 2013

Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across...

Por Wijers, Charlotte H. W., de Blaauw, Ivo, Marcelis, Carlo L. M., Wijnen, Rene M. H., Brunner, Han, Midrio, Paola, Gamba, Piergiorgio, Clementi, Maurizio, Jenetzky, Ekkehart, Zwink, Nadine, Reutter, Heiko, Bartels, Enrika, Grasshoff-Derr, Sabine, Holland-Cunz, Stefan, Hosie, Stuart, Märzheuser, Stefanie, Schmiedeke, Eberhard, Crétolle, Célia, Sarnacki, Sabine, Levitt, Marc A., Knoers, Nine V. A. M., Roeleveld, Nel, van Rooij, Iris A. L. M.
Publicado em 2010

Genes in the Ureteric Budding Pathway: Association Study on Vesico-Ureteral Reflux Patients

Por van Eerde, Albertien M., Duran, Karen, van Riel, Els, de Kovel, Carolien G. F., Koeleman, Bobby P. C., Knoers, Nine V. A. M., Renkema, Kirsten Y., van der Horst, Henricus J. R., Bökenkamp, Arend, van Hagen, Johanna M., van den Berg, Leonard H., Wolffenbuttel, Katja P., van den Hoek, Joop, Feitz, Wouter F., de Jong, Tom P. V. M., Giltay, Jacques C., Wijmenga, Cisca
Publicado em 2012

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

Por Bicknell, Louise S., Bongers, Ernie M.H.F., Leitch, Andrea, Brown, Stephen, Schoots, Jeroen, Harley, Margaret E., Aftimos, Salim, Al-Aama, Jumana Y., Bober, Michael, Brown, Paul A. J., van Bokhoven, Hans, Dean, John, Edrees, Alaa Y., Feingold, Murray, Fryer, Alan, Hoefsloot, Lies H., Kau, Nikolaus, Knoers, Nine V.A.M., MacKenzie, James, Opitz, John M., Sarda, Pierre, Ross, Alison, Temple, I. Karen, Toutain, Annick, Wise, Carol A., Wright, Michael, Jackson, Andrew P.
Publicado em 2011

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Por Bredrup, Cecilie, Saunier, Sophie, Oud, Machteld M., Fiskerstrand, Torunn, Hoischen, Alexander, Brackman, Damien, Leh, Sabine M., Midtbø, Marit, Filhol, Emilie, Bole-Feysot, Christine, Nitschké, Patrick, Gilissen, Christian, Haugen, Olav H., Sanders, Jan-Stephan F., Stolte-Dijkstra, Irene, Mans, Dorus A., Steenbergen, Eric J., Hamel, Ben C.J., Matignon, Marie, Pfundt, Rolph, Jeanpierre, Cécile, Boman, Helge, Rødahl, Eyvind, Veltman, Joris A., Knappskog, Per M., Knoers, Nine V.A.M., Roepman, Ronald, Arts, Heleen H.
Publicado em 2011

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

Por Gorden, Nicholas T., Arts, Heleen H., Parisi, Melissa A., Coene, Karlien L.M., Letteboer, Stef J.F., van Beersum, Sylvia E.C., Mans, Dorus A., Hikida, Abigail, Eckert, Melissa, Knutzen, Dana, Alswaid, Abdulrahman F., Özyurek, Hamit, Dibooglu, Sel, Otto, Edgar A., Liu, Yangfan, Davis, Erica E., Hutter, Carolyn M., Bammler, Theo K., Farin, Frederico M., Dorschner, Michael, Topçu, Meral, Zackai, Elaine H., Rosenthal, Phillip, Owens, Kelly N., Katsanis, Nicholas, Vincent, John B., Hildebrandt, Friedhelm, Rubel, Edwin W., Raible, David W., Knoers, Nine V.A.M., Chance, Phillip F., Roepman, Ronald, Moens, Cecilia B., Glass, Ian A., Doherty, Dan
Publicado em 2008