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| Full Text | Issue Date | Title | Author(s) |  | 2012 | Dominant missense mutations in ABCC9 cause Cantu syndrome. | Harakalova, M.; Harssel, J.J. van; Terhal, P.A.; Lieshout, S. van; Duran, K.; Renkens, I.; Amor, D.J.; Wilson, L.C.; Kirk, E.P.; Turner, C.L.; Shears, D.; Garcia-Minaur, S.; Lees, M.M.; Ross, A.; Venselaar, H.; Vriend, G.; Takanari, H.; Rook, M.B.; Heyden, M.A. van der; Asselbergs, F.W.; Breur, H.M.; Swinkels, M.E.; Scurr, I.J.; Smithson, S.F.; Knoers, N.V.A.M.; Smagt, J.J. van der; Nijman, IJ; Kloosterman, W.P.; Haelst, M.M. van; Haaften, G. van; Cuppen, E. |
| | 2011 | Clinical utility gene card for: Gitelman syndrome | Knoers, N.V.A.M.; Devuyst, O.; Kamsteeg, E.J. |
| | 2011 | Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT) | Renkema, K.Y.; Winyard, P.J.; Skovorodkin, I.N.; Levtchenko, E.N.; Hindryckx, A.; Jeanpierre, C.; Weber, S.; Salomon, R.; Antignac, C.; Vainio, S.; Schedl, A.; Schaefer, F.; Knoers, N.V.A.M.; Bongers, M.H.F. |
 | 2011 | Autosomal recessive cerebellar ataxias: the current state of affairs | Vermeer, S.; Warrenburg, B.P.C. van de; Willemsen, M.A.A.P.; Cluitmans, M.; Scheffer, H.; Kremer, B.; Knoers, N.V.A.M. |
| | 2011 | Mutations in the pre-replication complex cause Meier-Gorlin syndrome | Bicknell, L.S.; Bongers, M.H.F.; Leitch, A.; Brown, S.; Schoots, J.; Harley, M.E.; Aftimos, S.; Al-Aama, J.Y.; Bober, M.; Brown, P.A.; Bokhoven, J.H.L.M. van; Dean, J.; Edrees, A.Y.; Feingold, M.; Fryer, A.; Hoefsloot, L.H.; Kau, N.; Knoers, N.V.A.M.; Mackenzie, J.; Opitz, J.M.; Sarda, P.; Ross, A.; Temple, I.K.; Toutain, A.; Wise, C.A.; Wright, M.; Jackson, A.P. |
| | 2011 | Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19 | Bredrup, C.; Saunier, S.; Oud, M.M.; Fiskerstrand, T.; Hoischen, A.; Brackman, D.; Leh, S.M.; Midtbo, M.; Filhol, E.; Bole-Feysot, C.; Nitschke, P.; Gilissen, C.F.H.A.; Haugen, O.H.; Sanders, J.S.; Stolte-Dijkstra, I.; Mans, D.A.; Steenbergen, E.; Hamel, B.C.J.; Matignon, M.; Pfundt, R.; Jeanpierre, C.; Boman, H.; Rodahl, E.; Veltman, J.A.; Knappskog, P.M.; Knoers, N.V.A.M.; Roepman, R.; Arts, H.H. |
| | 2011 | CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia | Stuiver, M.; Lainez, S.; Will, C.; Terryn, S.; Gunzel, D.; Debaix, H.; Sommer, K.; Kopplin, K.; Thumfart, J.; Kampik, N.B.; Querfeld, U.; Willnow, T.E.; Nemec, V.; Wagner, C.A.; Hoenderop, J.G.J.; Devuyst, O.; Knoers, N.V.A.M.; Bindels, R.J.M.; Meij, I.C.; Muller, D. |
| | 2011 | The phenotype of recurrent 10q22q23 deletions and duplications | Bon, B.W. van; Balciuniene, J.; Fruhman, G.; Nagamani, S.C.; Broome, D.L.; Cameron, E.; Martinet, D.; Roulet, E.; Jacquemont, S.; Beckmann, J.S.; Irons, M.; Potocki, L.; Lee, B.; Cheung, S.W.; Patel, A.; Bellini, M.; Selicorni, A.; Ciccone, R.; Silengo, M.; Vetro, A.; Knoers, N.V.A.M.; Leeuw, N. de; Pfundt, R.; Wolf, B.; Jira, P.; Aradhya, S.; Stankiewicz, P.; Brunner, H.G.; Zuffardi, O.; Selleck, S.B.; Lupski, J.R.; Vries, B.B. de |
| | 2011 | C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome | Arts, H.H.; Bongers, M.H.F.; Mans, D.A.; Beersum, S.E.C. van; Oud, M.M.; Bolat, E.; Spruijt, L.; Cornelissen, E.A.M.; Schuurs-Hoeijmakers, J.H.M.; Leeuw, N. de; Cormier-Daire, V.; Brunner, H.G.; Knoers, N.V.A.M.; Roepman, R. |
| | 2011 | Common variants in DGKK are strongly associated with risk of hypospadias | Zanden, L.F. van der; Rooij, I.A. van; Feitz, W.F.J.; Knight, J.; Donders, A.R.T.; Renkema, K.Y.; Bongers, M.H.F.; Vermeulen, S.; Kiemeney, L.A.L.M.; Veltman, J.A.; Arias Vasquez, A.; Zhang, X.; Markljung, E.; Qiao, L.; Baskin, L.S.; Nordenskjold, A.; Roeleveld, N.; Franke, B.; Knoers, N.V.A.M. |
| | 2010 | Plasma levels of von Willebrand factor, von Willebrand factor propeptide and factor VIII in carriers and patients with nephrogenic diabetes insipidus. | Nossent, A.Y.; Ellenbroek, J.H.; Frolich, M.; Bertina, R.M.; Knoers, N.V.A.M.; Eikenboom, J.C. |
| | 2010 | Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene. | Thomeer, H.G.X.M.; Crins, T.T.; Kamsteeg, E.J.; Buijsman, W.; Cruysberg, J.R.M.; Knoers, N.V.A.M.; Cremers, C.W.R.J. |
| | 2010 | Werkgerelateerde vermoeidheid bij oudere hoogopgeleide vrouwen | Knoers, N.V.A.M. |
 | 2010 | Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations. | Bot, S.T. de; Elzen, R.T. van den; Mensenkamp, A.R.; Schelhaas, H.J.; Willemsen, M.A.A.P.; Knoers, N.V.A.M.; Kremer, H.P.H.; Warrenburg, B.P.C. van de; Scheffer, H. |
| | 2010 | Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome. | Gilissen, C.F.H.A.; Arts, H.H.; Hoischen, A.; Spruijt, L.; Mans, D.A.; Arts, P.J.W.; Lier, B. van; Steehouwer, M.; Reeuwijk, J. van; Kant, S.G.; Roepman, R.; Knoers, N.V.A.M.; Veltman, J.A.; Brunner, H.G. |
| | 2010 | New molecular players facilitating Mg(2+) reabsorption in the distal convoluted tubule. | Glaudemans, B.; Knoers, N.V.A.M.; Hoenderop, J.G.J.; Bindels, R.J.M. |
| | 2010 | Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations. | Wijers, C.H.W.; Blaauw, I. de; Marcelis, C.L.M.; Wijnen, R.M.H.; Brunner, H.G.; Midrio, P.; Gamba, P.; Clementi, M.; Jenetzky, E.; Zwink, N.; Reutter, H.; Bartels, E.; Grasshoff-Derr, S.; Holland-Cunz, S.; Hosie, S.; Marzheuser, S.; Schmiedeke, E.; Cretolle, C.; Sarnacki, S.; Levitt, M.A.; Knoers, N.V.A.M.; Roeleveld, N.; Rooij, I.A.L.M. van |
| | 2010 | Genetics of hypospadias: are single-nucleotide polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 really associated with the malformation? | Zanden, L.F.M. van der; Rooij, I.A.L.M. van; Feitz, W.F.J.; Vermeulen, S.; Kiemeney, L.A.L.M.; Knoers, N.V.A.M.; Roeleveld, N.; Franke, B. |
| | 2010 | Maternal and paternal risk factors for anorectal malformations: a Dutch case-control study. | Rooij, I.A.L.M. van; Wijers, C.H.W.; Rieu, P.N.M.A.; Hendriks, H.S.; Brouwers, M.M.; Knoers, N.V.A.M.; Blaauw, I. de; Roeleveld, N. |
| | 2010 | Massively parallel sequencing of ataxia genes after array-based enrichment. | Hoischen, A.; Gilissen, C.F.H.A.; Arts, P.J.W.; Wieskamp, N.A.W.; Vliet, W. van der; Vermeer, S.; Steehouwer, M.; Vries, P.F. de; Meijer, R.; Seiqueros, J.; Knoers, N.V.A.M.; Buckley, M.F.; Scheffer, H.; Veltman, J.A. |
| | 2010 | Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia. | Vermeer, S.; Hoischen, A.; Meijer, R.P.; Gilissen, C.F.H.A.; Neveling, K.; Wieskamp, N.A.W.; Brouwer, A.; Koenig, M.; Anheim, M.; Assoum, M.; Drouot, N.; Todorovic, S.; Milic-Rasic, V.; Lochmuller, H.; Stevanin, G.; Goizet, C.; David, A.; Durr, A.; Brice, A.; Kremer, B.; Warrenburg, B.P.C. van de; Schijvenaars, M.M.V.A.P.; Heister, A.; Kwint, M.P.; Arts, P.J.W.; Wijst, J.A.J. van der; Veltman, J.; Kamsteeg, E.J.; Scheffer, H.; Knoers, N.V.A.M. |
| | 2009 | Focus on molecules : RPGRIP1 | Arts, H.H.; Cremers, F.P.M.; Knoers, N.V.A.M.; Roepman, R. |
| | 2009 | EUNEFRON, the European Network for the Study of Orphan Nephropathies. | Devuyst, O.; Meij, I.; Jeunemaitre, X.; Ronco, P.; Antignac, C.; Christensen, E.I.; Slobbe-Knoers, V.V.A.M.; Levtchenko, E.N.; Deen, P.M.T.; Muller, D.; Wagner, C.A.; Rampoldi, L.; Hoff, W.G. van 't |
| | 2009 | Hereditaire spastische paraparesen : stand van zaken en leidraad voor genetisch onderzoek | Bot, S.T. de; Scheffer, H.; Schelhaas, H.J.; Knoers, N.V.A.M.; Willemsen, M.A.A.P.; Warrenburg, B.P.C. van de; Kremer, H.P.H. |
| | 2009 | ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia (vol 9, pg 207, 2008) | Vermeer, S.; Meijer, R.P.; Pijl, B.J.; Timmermans, J.; Cruysberg, J.R.M.; Bos, M.M.; Schelhaas, H.J.; Warrenburg, B.P.C. van de; Knoers, N.V.A.M.; Scheffer, H.; Kremer, H.P.H. |
| | 2009 | Genetic testing: considerations for pediatric nephrologists. | Guay-Woodford, L.M.; Knoers, N.V.A.M. |
| | 2009 | Inherited forms of renal hypomagnesemia: an update. | Knoers, N.V.A.M. |
| | 2009 | Gardner's syndrome (familial adenomatous polyposis): a cilia-related disorder. | Gomez Garcia, E.B.; Knoers, N.V.A.M. |
| | 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 sequence of the SACS gene. | Vermeer, S.; Meijer, R.P.; Hofste, T.G.; Bodmer, D.; Bosgoed, E.A.J.; Cremers, F.P.M.; Kremer, H.P.H.; Slobbe-Knoers, V.V.A.M.; Scheffer, H. |
| | 2009 | Intracellular activation of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus by nonpeptide agonists. | Robben, J.H.; Kortenoeven, M.L.A.; Sze, M.; Yae, C.; Milligan, G.; Oorschot, V.M.; Klumperman, J.; Knoers, N.V.A.M.; Deen, P.M.T. |
| | 2009 | Rare but relevant kidney disorders. | Grünveld, J.P; Scholl, U.; Choi, M.; Liu, T.; Ramaekers, V.; Häusler, M.; Grimmer, J.; Tobe, S.; Fahri, A.; Nelson-Williams, C.; Lifton, R.P.; Bockenhauer, D.; Feather, S.; Stanescu, H.; Bandulik, S.; Zdebik, A.; Reichold, M.; Tobin, J.; Lieberer, E.; Sterner, C.; Landoure, G.; Arora, R.; Sirimanna, T.; Thompson, D.; Cross, J.; Hof, W. van 't; Al Masri, O.; Tullus, K.; Yeung, S.; Anikster, Y.; Klootwijk, E.D.; Hubank, M.; Dillon, M.; Heitzmann, D.; Arcos-Burgos, M.; Knepper, M.A.; Dobbie, A.; Gahl, W.A.; Warth, R.; Sheridan, E.; Kleta, R.; Glaudemans, B.; Wijst, J.A.J. van der; Scola, R.H.; Lorenzoni, P.J.; Heister, J.G.A.M.; Kemp, J.W.C.M. van der; Knoers, N.V.A.M.; Hoenderop, J.G.J.; Bindels, R.J.M.; Bommel, E. van; Jansen, I.J.; Hendriksz, T.; Aarnoudse, A.; Scheel, P.; Feeley, N.; Delvaeye, M.; Noris, M.; Vriese, A. de; Esmon, C.; Esmon, N.; Ferrell, G.; Del-Favero, J.; Plaisance, S.; Claes, B.; Lambrechts, D.; Remuzzi, G.; Conway, E. |
| | 2009 | A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia. | Glaudemans, B.; Wijst, J.A.J. van der; Scola, R.H.; Lorenzoni, P.J.; Heister, J.G.A.M.; Kemp, J.W.C.M. van der; Slobbe-Knoers, V.V.A.M.; Hoenderop, J.G.J.; Bindels, R.J.M. |
| | 2009 | Decreased bone density and treatment in patients with autosomal recessive cutis laxa. | Noordam, C.; Funke, S.; Slobbe-Knoers, V.V.A.M.; Jira, P.E.; Wevers, R.A.; Urban, Z.; Morava, E. |
| | 2008 | Growth charts for Wolf-Hirschhorn syndrome (0-4 years of age). | Antonius, T.A.J.; Draaisma, J.; Levtchenko, E.N.; Knoers, N.V.A.M.; Renier, W.; Ravenswaaij, C van |
| | 2008 | A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis. | Leeuw, N. de; Pfundt, R.P.; Koolen, D.A.; Neefs, I.; Scheltinga, I.; Mieloo, H.; Sistermans, E.A.; Nillesen, W.; Smeets, D.F.C.M.; Vries, L.B.A. de; Knoers, N.V.A.M. |
| | 2008 | Aquaporin 2 mutations in nephrogenic diabetes insipidus. | Loonen, A.J.M.; Knoers, N.V.A.M.; Os, C.H. van; Deen, P.M.T. |
| | 2008 | Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome. | Riveira-Munoz, E.; Devuyst, O.; Belge, H.; Jeck, N.; Strompf, L.; Vargas-Poussou, R.; Jeunemaitre, X.; Blanchard, A.; Knoers, N.V.A.M.; Konrad, M.; Dahan, K. |
| | 2008 | Impaired routing of wild type FXYD2 after oligomerisation with FXYD2-G41R might explain the dominant nature of renal hypomagnesemia. | Cairo, E.R.; Friedrich, T.; Swarts, H.G.P.; Knoers, N.V.A.M.; Bindels, R.J.M.; Monnens, L.A.; Willems, P.H.G.M.; Pont, J.J.H.H.M. de; Koenderink, J.B. |
| | 2008 | Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. | Swinkels, M.E.; Simons, A.; Smeets, D.F.C.M.; Vissers, L.E.L.M.; Veltman, J.A.; Pfundt, R.P.; Vries, L.B.A. de; Faas, B.H.W.; Schrander-Stumpel, C.T.; McCann, E.; Sweeney, E.; May, P.; Draaisma, J.M.T.; Knoers, N.V.A.M.; Geurts van Kessel, A.H.M.; Ravenswaaij-Arts, C.M.A. van |
| | 2008 | CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. | Friedman, J.I.; Vrijenhoek, T.; Markx, S.; Janssen, I.M.; Vliet, W.A. van der; Faas, B.H.W.; Knoers, N.V.A.M.; Cahn, W.; Kahn, R.S.; Edelmann, L.; Davis, K.L.; Silverman, J.M.; Brunner, H.G.; Geurts van Kessel, A.H.M.; Wijmenga, C.; Ophoff, R.A.; Veltman, J.A. |
| | 2008 | Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. | Bongers, E.M.H.F.; Wijs, I.J. de; Marcelis, C.; Hoefsloot, L.H.; Knoers, N.V.A.M. |
| | 2008 | Gitelman syndrome. | Knoers, N.V.A.M.; Levtchenko, E.N. |
| | 2008 | ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. | Vermeer, S.; Meijer, R.P.; Pijl, B.J.; Timmermans, J.; Cruysberg, J.R.M.; Bos, M.M.; Schelhaas, H.J.; Warrenburg, B.P.C. van de; Knoers, N.V.A.M.; Scheffer, H.; Kremer, H.P.H. |
| | 2008 | CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. | Gorden, N.T.; Arts, H.H.; Parisi, M.A.; Coene, K.L.M.; Letteboer, S.J.F.; Beersum, S.E.C. van; Mans, D.A.; Hikida, A.; Eckert, M.; Knutzen, D.; Alswaid, A.F.; Ozyurek, H.; Dibooglu, S.; Otto, E.A.; Liu, Y.; Davis, E.E.; Hutter, C.M.; Bammler, T.K.; Farin, F.M.; Dorschner, M.; Topcu, M.; Zackai, E.H.; Rosenthal, P.; Owens, K.N.; Katsanis, N.; Vincent, J.B.; Hildebrandt, F.; Rubel, E.W.; Raible, D.W.; Knoers, N.V.A.M.; Chance, P.F.; Roepman, R.; Moens, C.B.; Glass, I.A.; Doherty, D. |
| | 2007 | [From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes] | Levtchenko, E.N.; Monnens, L.A.H.; Bokenkamp, A.; Knoers, N.V.A.M. |
| | 2007 | Functional rescue of vasopressin V2 receptor mutants in MDCK cells by pharmacochaperones : relevance to therapy of nephrogenic diabetes insipidus | Robben, J.H.; Sze, M.; Knoers, N.V.A.M.; Deen, P.M.T. |
| | 2007 | Relief of nocturnal enuresis by desmopressin is kidney and vasopressin type 2 receptor independent. | Robben, J.H.; Sze, M.; Knoers, N.V.A.M.; Eggert, P.; Deen, P.M.T.; Muller, D. |
| | 2007 | Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. | Groenestege, W.M.; Thebault, S.C.; Wijst, J.A.J. van der; Berg, D. Van den; Janssen, R.; Tejpar, S.; Heuvel, L.P.W.J. van den; Cutsem, E. van; Hoenderop, J.G.J.; Knoers, N.V.A.M.; Bindels, R.J.M. |
| | 2007 | [From gene to disease; 'apparent mineralocorticoid excess' syndrome, a syndrome with an apparent excess of mineral corticoids] | Levtchenko, E.N.; Deinum, J.; Knoers, N.V.A.M.; Hermus, A.R.M.M.; Monnens, L.A.H.; Lenders, J.W.M. |
| | 2007 | Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. | Arts, H.H.; Doherty, D.; Beersum, S.E.C. van; Parisi, M.A.; Letteboer, S.J.F.; Gorden, N.T.; Peters, T.A.; Marker, T.; Voesenek, K.E.J.; Kartono, A.; Ozyurek, H.; Farin, F.M.; Kroes, H.Y.; Wolfrum, U.; Brunner, H.G.; Cremers, F.P.M.; Glass, I.A.; Knoers, N.V.A.M.; Roepman, R. |
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