Description of theme 1
Description of theme 2
Description of theme 3
   
 

Human Genetics
PO Box 9101
6500 HB Nijmegen

Nine Knoers is a clinical geneticist at the department of Human Genetics. She is professor, since 2003, in Clinical Genetics, with focus on nephrogenetics. In addition, she is chairperson of the Top centre, Genetic and Metabolic Disorders at the Radboud University Nijmegen Medical Centre. She is also the chairperson of the NCMLS PhD committee.
Prof. dr. Nine V.A.M. Knoers

Research interests are in nephrogenetics, focusing on the identification of genes for genetic renal disorders. Genotype-phenotype studies and studies aimed at elucidating the cell-physiological and cell-biological abnormalities resulting from mutant genes are part of this research. The latter studies are a collaborative effort with the Department of Physiology. Current projects include (1)genotype-phenotype studies in Nail-Patella syndrome (NPS) and identification of genes in NPS-like syndromes, (2) identification of genes for genetic forms of renal hypomagnesemia, and (3) identification of genetic and epidemiological risk factors (and their interaction) for congenital renal anomalies.
 
Recent key publications

Knoers NVAM. Hyperactive vasopressin receptors: a new chapter in disturbed water homestasis. N Engl J Med 2005; 352:1847-1850.

Bongers EMHF, Huysmans FT, Levtchenko E. de Rooy JW, Blickman JG, Admiraal RJC, Huygen PLM, Cruysberg JRM, Toolens PAMP, Prins JB, Krabbe PFM, Borm GF, Schoots J, van Bokhoven H, van Remortele AMF, van Bokhoven H, Hoefsloot LH, van Kampen A, Knoers NVAM. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet 2005;13:935-946
.
Robben JH, Knoers NVAM, Deen PMT. Characterization of vasopressin V2 receptor mutants in nephrogenic diabetes insipidus in a polarized cell model. Am J Physiol Renal Physiol 2005;289:F265-F272.

Koolen DA, Knoers NV, Nillesen WM, Slabbers GH, Smeets D, de Leeuw N, Sistermans EA, de Vries BB. Partial iris hypoplasia in a patient with an interstitial subtelomeric 6p deletion not including the forkhead transcription factor gene FOXC1. Eur J Hum Genet 2005; 13:1169-1171.
Bongers EM, van Kampen A, van Bokhoven H, Knoers NVAM. Human syndromes with congenital patellar anomalies and the uderlying gene defects. Clin Genet 2005; 68:302-319.

Vermeer SC, van Oostrom CG, Boetes C, Verrips A, Knoers NVAM. Unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations. Clin Dysmorphol 2005;14:203-206