Gitelman syndrome

Por Knoers, Nine VAM, Levtchenko, Elena N
Publicado em 2008

Clinical utility gene card for: Gitelman syndrome

Por Knoers, Nine VAM, Devuyst, Olivier, Kamsteeg, Erik-Jan
Publicado em 2011

Three‐dimensional facial morphology in Cantú syndrome

Por Roessler, Helen I., Shields, Kathleen, Grange, Dorothy K., Knoers, Nine V.A.M., van Haaften, Gijs, Hammond, Peter, van Haelst, Mieke M.
Publicado no Am J Med Genet A (2020)

Meier-Gorlin syndrome

Por de Munnik, Sonja A., Hoefsloot, Elisabeth H., Roukema, Jolt, Schoots, Jeroen, Knoers, Nine VAM, Brunner, Han G., Jackson, Andrew P., Bongers, Ernie MHF
Publicado no Orphanet J Rare Dis (2015)

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

Por Glaudemans, Bob, Yntema, Helger G, San-Cristobal, Pedro, Schoots, Jeroen, Pfundt, Rolph, Kamsteeg, Erik-J, Bindels, René J, Knoers, Nine VAM, Hoenderop, Joost G, Hoefsloot, Lies H
Publicado em 2012

The von Hippel-Lindau Gene Is Required to Maintain Renal Proximal Tubule and Glomerulus Integrity in Zebrafish Larvae

Por van Rooijen, Ellen, van de Hoek, Glenn, Logister, Ive, Ajzenberg, Henry, Knoers, Nine V.A.M., van Eeden, Freek, Voest, Emile E., Schulte-Merker, Stefan, Giles, Rachel H.
Publicado no Nephron Clin Pract (2018)

Pregnancy in Advanced Kidney Disease: Clinical Practice Considerations on a Challenging Combination

Por Snoek, Rozemarijn, van der Graaf, Rieke, Meinderts, Jildau R., van Reekum, Franka, Bloemenkamp, Kitty W.M., Knoers, Nine V.A.M., van Eerde, Albertien M., Lely, A. Titia
Publicado no Nephron Clin Pract (2020)

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

Por de Munnik, Sonja A, García-Miñaúr, Sixto, Hoischen, Alexander, van Bon, Bregje W, Boycott, Kym M, Schoots, Jeroen, Hoefsloot, Lies H, Knoers, Nine VAM, Bongers, Ernie MHF, Brunner, Han G
Publicado em 2014

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

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

Importance of Genetic Diagnostics in Adult-Onset Focal Segmental Glomerulosclerosis

Por Snoek, Rozemarijn, Nguyen, Tri Q., van der Zwaag, Bert, van Zuilen, Arjan D., Kruis, Hannah M.E., van Gils-Verrij, Liesbeth A., Goldschmeding, Roel, Knoers, Nine V.A.M., Rookmaaker, Maarten B., van Eerde, Albertien M.
Publicado no Nephron Clin Pract (2019)

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

Joubert syndrome: genotyping a Northern European patient cohort

Por Kroes, Hester Y, Monroe, Glen R, van der Zwaag, Bert, Duran, Karen J, de Kovel, Carolien G, van Roosmalen, Mark J, Harakalova, Magdalena, Nijman, Ies J, Kloosterman, Wigard P, Giles, Rachel H, Knoers, Nine VAM, van Haaften, Gijs
Publicado no Eur J Hum Genet (2016)

Common Elements in Rare Kidney Diseases: Conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference

Por Aymé, Ségolène, Bockenhauer, Detlef, Day, Simon, Devuyst, Olivier, Guay-Woodford, Lisa M., Ingelfinger, Julie R., Klein, Jon B., Knoers, Nine V.A.M., Perrone, Ronald D., Roberts, Julia, Schaefer, Franz, Torres, Vicente E., Cheung, Michael, Wheeler, David C., Winkelmayer, Wolfgang C.
Publicado no Kidney Int (2017)

Preimplantation Genetic Testing for Monogenic Kidney Disease

Por Snoek, Rozemarijn, Stokman, Marijn F., Lichtenbelt, Klaske D., van Tilborg, Theodora C., Simcox, Cindy E., Paulussen, Aimée D.C., Dreesen, Jos C.M.F., van Reekum, Franka, Lely, A. Titia, Knoers, Nine V.A.M., de Die-Smulders, Christine E.M., van Eerde, Albertien M.
Publicado no Clin J Am Soc Nephrol (2020)

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

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