Molecular and cellular defects in nephrogenic diabetes insipidusKNOERS, Nine V. A. M; DEEN, Peter M. T.Pediatric nephrology (Berlin, West). 2001, Vol 16, Num 12, pp 1146-1152, issn 0931-041XArticle

Nail-patella syndrome. Overview on clinical and molecular findingsBONGERS, Ernie M. H. F; GUBLER, Marie-Claire; KNOERS, Nine V. A. M et al.Pediatric nephrology (Berlin, West). 2002, Vol 17, Num 9, pp 703-712, issn 0931-041XArticle

Plasma levels of von Willebrand factor, von Willebrand factor propeptide and factor VIII in carriers and patients with nephrogenic diabetes insipidusNOSSENT, A. Yaël; ELLENBROEK, Johanne H; FRÖLICH, Marijke et al.Thrombosis research. 2010, Vol 125, Num 6, pp 554-556, issn 0049-3848, 3 p.Article

Rare inherited kidney diseases: challenges, opportunities, and perspectivesDEVUYST, Olivier; KNOERS, Nine V. A. M; REMUZZI, Giuseppe et al.Lancet (British edition). 2014, Vol 383, Num 9931, pp 1844-1859, issn 0140-6736, 16 p.Article

Evidence for genetic heterogeneity in familial isolated patella aplasia-hypoplasiaBONGERS, Ernie M. H. F; VAN BOKHOVEN, Hans; KNOERS, Nine V. A. M et al.American journal of medical genetics. 2002, Vol 108, Num 1, pp 78-79, issn 0148-7299Article

New molecular players facilitating Mg²⁺ reabsorption in the distal convoluted tubuleGLAUDEMANS, Bob; KNOERS, Nine V. A. M; HOENDEROP, Joost G. J et al.Kidney international. 2010, Vol 77, Num 1, pp 17-22, issn 0085-2538, 6 p.Article

Identification of entire LMX1B gene deletions in nail patella syndrome : evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in manBONGERS, Ernie M. H. F; DE WIJS, Ilse J; MARCELIS, Carlo et al.European journal of human genetics. 2008, Vol 16, Num 10, pp 1240-1244, issn 1018-4813, 5 p.Article

Effects of chemical chaperones on partially retarded NaCl cotransporter mutants associated with Gitelman's syndrome in a mouse cortical collecting duct cell lineDE JONG, Joke C; WILLEMS, Peter H. G. M; GOOSSENS, Monique et al.Nephrology, dialysis, transplantation (Print). 2004, Vol 19, Num 5, pp 1069-1076, issn 0931-0509, 8 p.Article

Exclusion of mutations in FXYD2, CLDN16 and SLC12A3 in two families with primary renal Mg²⁺ lossMEIJ, Iwan C; VAN DEN HEUVEL, Lambert P. W. J; HEMMES, Sies et al.Nephrology, dialysis, transplantation (Print). 2003, Vol 18, Num 3, pp 512-516, issn 0931-0509, 5 p.Article

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner SyndromeGILISSEN, Christian; ARTS, Heleen H; ROEPMAN, Ronald et al.American journal of human genetics. 2010, Vol 87, Num 3, pp 418-423, issn 0002-9297, 6 p.Article

Antenatal Bartter syndrome with sensorineural deafness : refinement of the locus on chromosome 1p31VOLLMER, Martin; JECK, Nikola; ANTIGNAC, Corinne et al.Nephrology, dialysis, transplantation (Print). 2000, Vol 15, Num 7, pp 970-974, issn 0931-0509Article

Exploration of Gene-Environment Interactions, Maternal Effects and Parent of Origin Effects in the Etiology of HypospadiasVAN DER ZANDEN, Loes F. M; GALESLOOT, Tessel E; FEITZ, Wout F. J et al.The Journal of urology. 2012, Vol 188, Num 6, pp 2354-2360, issn 0022-5347, 7 p., 1Article

C140RF179 encoding IFT43 is mutated in Sensenbrenner syndromeARTS, Heleen H; BONGERS, Ernie M. H. F; CORMIER-DAIRE, Valérie et al.Journal of medical genetics. 2011, Vol 48, Num 6, pp 390-395, issn 0022-2593, 6 p.Article

Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT)RENKEMA, Kirsten Y; WINYARD, Paul J; SCHEDL, Andreas et al.Nephrology, dialysis, transplantation (Print). 2011, Vol 26, Num 12, pp 3843-3851, issn 0931-0509, 9 p.Article

CC2D2A Is Mutated in joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290GORDEN, Nicholas T; ARTS, Heleen H; ALSWAID, Abdulrahman F et al.American journal of human genetics. 2008, Vol 83, Num 5, pp 559-571, issn 0002-9297, 13 p.Article

Dominant isolated renal magnesium loss is caused by misrouting of the Na⁺, K⁺-atpase γ-subunitMEIJ, Ivan C; KOENDERINK, Jan B; VAN BOKHOVEN, Hans et al.Nature genetics. 2000, Vol 26, Num 3, pp 265-266, issn 1061-4036Article

Peripheral nerve involvement in spinocerebellar ataxiasVAN DE WARRENBURG, Bart P. C; NOTERMANS, Nicolette C; SCHELHAAS, Helenius J et al.Archives of neurology (Chicago). 2004, Vol 61, Num 2, pp 257-261, issn 0003-9942, 5 p.Article

Functional expression of mutations in the human NaCl cotransporter: Evidence for impaired routing mechanisms in gitelman's syndromeDE JONG, Joke C; VAN DER VLIET, Walter A; VAN DEN HEUVEL, Lambertus P. W. J et al.Journal of the American Society of Nephrology. 2002, Vol 13, Num 6, pp 1442-1448, issn 1046-6673Article

Clinical Presentation and the Presence of Hearing Impairment in Branchio-oculo-facial Syndrome: A New Mutation in the TFAP2A GeneTHOMEER, Henricus G. X. M; CRINS, Tom T. H; KAMSTEEG, Erik J et al.The Annals of otology, rhinology & laryngology. 2010, Vol 119, Num 12, pp 806-814, issn 0003-4894, 9 p.Article

Mutations in the human Na-K-2Cl cotransporter (NKCC2) identified in Bartter syndrome type I consistently result in nonfunctional transportersSTARREMANS, Patrick G. J. F; KERSTEN, Ferry F. J; KNOERS, Nine V. A. M et al.Journal of the American Society of Nephrology. 2003, Vol 14, Num 6, pp 1419-1426, issn 1046-6673, 8 p.Article

The small patella syndrome: description of five cases from three families and examination of possible allelism with familial patella aplasia-hypoplasia and nail-patella syndromeBONGERS, Ernie M. H. F; VAN BOKHOVEN, Hans; VAN THIENEN, Marie-Noëlle et al.Journal of medical genetics. 2001, Vol 38, Num 3, pp 209-213, issn 0022-2593Article

Nail-patella syndrome : Identification of mutations in the LMX1B gene in Dutch familiesKNOERS, Nine V. A. M; BONGERS, Ernie M. H. F; VAN BEERSUM, Sylvia E. C et al.Journal of the American Society of Nephrology. 2000, Vol 11, Num 9, pp 1762-1766, issn 1046-6673Article

Risk factors for different phenotypes of hypospadias: results from a Dutch case―control studyROOIJ, Iris A. L. M. Van; DER ZANDEN, Loes F. M. Van; BROUWERS, Marijn M et al.BJU international (Papier). 2013, Vol 112, Num 1, pp 121-128, issn 1464-4096, 8 p.Article

Urine osmolality, cyclic AMP and aquaporin-2 in urine of patients under lithium treatment in response to water loading followed by vasopressin administrationWILTING, Ingeborg; BAUMGARTEN, Ruben; MOVIG, Kris L. L et al.European journal of pharmacology. 2007, Vol 566, Num 1-3, pp 50-57, issn 0014-2999, 8 p.Article

In vivo expression of putative LMW1B targets in nail-patella syndrome kidneysHEIDET, Laurence; BONGERS, Ernie M. H. F; KNOERS, Nine V. A. M et al.The American journal of pathology. 2003, Vol 163, Num 1, pp 145-155, issn 0002-9440, 11 p.Article