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

A missense mutation in the Kv1.1 voltage-gated potassium channel–encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia

Por Glaudemans, Bob, van der Wijst, Jenny, Scola, Rosana H., Lorenzoni, Paulo J., Heister, Angelien, van der Kemp, AnneMiete W., Knoers, Nine V., Hoenderop, Joost G., Bindels, René J.
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

The Intestine Plays a Substantial Role in Human Vitamin B6 Metabolism: A Caco-2 Cell Model

Por Albersen, Monique, Bosma, Marjolein, Knoers, Nine V. V. A. M., de Ruiter, Berna H. B., Diekman, Eugène F., de Ruijter, Jessica, Visser, Wouter F., de Koning, Tom J., Verhoeven-Duif, Nanda M.
Publicado em 2013

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

Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia

Por Groenestege, Wouter M. Tiel, Thébault, Stéphanie, van der Wijst, Jenny, van den Berg, Dennis, Janssen, Rob, Tejpar, Sabine, van den Heuvel, Lambertus P., van Cutsem, Eric, Hoenderop, Joost G., Knoers, Nine V., Bindels, René J.
Publicado em 2007

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

Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis

Por Slaats, Gisela G., Wheway, Gabrielle, Foletto, Veronica, Szymanska, Katarzyna, van Balkom, Bas W. M., Logister, Ive, Den Ouden, Krista, Keijzer-Veen, Mandy G., Lilien, Marc R., Knoers, Nine V., Johnson, Colin A., Giles, Rachel H.
Publicado no J Cell Sci (2015)

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

Non-invasive sources of cells with primary cilia from pediatric and adult patients

Por Ajzenberg, Henry, Slaats, Gisela G., Stokman, Marijn F., Arts, Heleen H., Logister, Ive, Kroes, Hester Y., Renkema, Kirsten Y., van Haelst, Mieke M., Terhal, Paulien A., van Rooij, Iris A., Keijzer-Veen, Mandy G., Knoers, Nine V., Lilien, Marc R., Jewett, Michael A., Giles, Rachel H.
Publicado no Cilia (2015)

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