N V Knoers

Summary

Affiliation: University Medical Center Nijmegen
Country: The Netherlands

Publications

  1. ncbi request reprint Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families
    N V Knoers
    Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands
    J Am Soc Nephrol 11:1762-6. 2000
  2. ncbi request reprint Molecular and cellular defects in nephrogenic diabetes insipidus
    N V Knoers
    Department of Human Genetics NVAMK, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Pediatr Nephrol 16:1146-52. 2001
  3. ncbi request reprint [From genes to disease: from vasopressin-V2-receptor and aquaporine-2 to nephrogenic diabetes insipidus]
    N V Knoers
    Universitair Medisch Centrum St Radboud, afd Antropogenetica, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 144:2402-4. 2000
  4. ncbi request reprint Nephrogenic diabetes insipidus
    N V Knoers
    Department of Human Genetics, University of Hospital Nijmegen, The Netherlands
    Semin Nephrol 19:344-52. 1999
  5. ncbi request reprint X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region
    H G Yntema
    Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands
    Am J Med Genet 85:305-8. 1999
  6. ncbi request reprint Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit
    I C Meij
    Department of Pediatrics, Institute of Cellular Signaling, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Nat Genet 26:265-6. 2000
  7. ncbi request reprint Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis
    B C Hamel
    Department of Human Genetics, University Hospital, Nijmegen, The Netherlands
    Am J Med Genet 85:290-304. 1999
  8. ncbi request reprint Aquaporin molecular biology and clinical abnormalities of the water transport channels
    N V Knoers
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Curr Opin Pediatr 10:428-34. 1998
  9. ncbi request reprint Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus
    A F van Lieburg
    Department of Pediatrics, University Hospital Nijmegen, The Netherlands
    J Am Soc Nephrol 10:1958-64. 1999
  10. pmc Hereditary isolated renal magnesium loss maps to chromosome 11q23
    I C Meij
    Department of Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 64:180-8. 1999

Collaborators

Detail Information

Publications20

  1. ncbi request reprint Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families
    N V Knoers
    Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands
    J Am Soc Nephrol 11:1762-6. 2000
    ..In addition, evidence of a correlation between other characteristics of the NPS phenotype and specific mutations has not been found...
  2. ncbi request reprint Molecular and cellular defects in nephrogenic diabetes insipidus
    N V Knoers
    Department of Human Genetics NVAMK, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Pediatr Nephrol 16:1146-52. 2001
    ..Several new methodologies focused on the molecular defects causing NDI are presently being investigated in vitro and might eventually develop into useful therapeutic strategies...
  3. ncbi request reprint [From genes to disease: from vasopressin-V2-receptor and aquaporine-2 to nephrogenic diabetes insipidus]
    N V Knoers
    Universitair Medisch Centrum St Radboud, afd Antropogenetica, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 144:2402-4. 2000
    ..For a dominant abnormality the transport signal in the AQP2 protein changes which results in it being found in another part of the cell namely the Golgi apparatus...
  4. ncbi request reprint Nephrogenic diabetes insipidus
    N V Knoers
    Department of Human Genetics, University of Hospital Nijmegen, The Netherlands
    Semin Nephrol 19:344-52. 1999
    ..We are now entering an exciting new period in the development of new therapeutic strategies for disorders of water balance...
  5. ncbi request reprint X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region
    H G Yntema
    Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands
    Am J Med Genet 85:305-8. 1999
    ..Furthermore, we show the importance of combining clinical, cytogenetic, and molecular studies since one of the family members, expected to be affected by the same genetic defect, has a 48,XXXY karyotype...
  6. ncbi request reprint Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit
    I C Meij
    Department of Pediatrics, Institute of Cellular Signaling, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Nat Genet 26:265-6. 2000
    ..We identified a putative dominant-negative mutation in the gene encoding the Na(+), K(+)-ATPase gamma-subunit (FXYD2), leading to defective routing of the protein in a family with dominant renal hypomagnesaemia...
  7. ncbi request reprint Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis
    B C Hamel
    Department of Human Genetics, University Hospital, Nijmegen, The Netherlands
    Am J Med Genet 85:290-304. 1999
    ..Linkage analysis localized the genetic defect of MRX43 to Xp22. 31-p21.2, MRX44 to Xp11.3-p11.21, MRX45 to Xp11.3-p11.21, and MRX52 to Xp11.21-q21.33 with LOD scores of >2 at straight theta = 0.0 in all four families...
  8. ncbi request reprint Aquaporin molecular biology and clinical abnormalities of the water transport channels
    N V Knoers
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Curr Opin Pediatr 10:428-34. 1998
    ..The finding of changed AQP2 expression in several acquired water balance disorders may pave the way toward developing treatments for these clinical problems...
  9. ncbi request reprint Clinical presentation and follow-up of 30 patients with congenital nephrogenic diabetes insipidus
    A F van Lieburg
    Department of Pediatrics, University Hospital Nijmegen, The Netherlands
    J Am Soc Nephrol 10:1958-64. 1999
    ..Height SD scores for age remained below the 50th percentile in the majority of patients, whereas weight for height SD scores showed a catch-up after several years of underweight...
  10. pmc Hereditary isolated renal magnesium loss maps to chromosome 11q23
    I C Meij
    Department of Pediatrics, University Hospital Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 64:180-8. 1999
    ..We conclude that this region encompasses a gene, involved in renal magnesium handling, that is mutated in our patients and is different from the gene involved in intestinal magnesium handling...
  11. ncbi request reprint Meier-Gorlin syndrome: report of eight additional cases and review
    E M Bongers
    Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
    Am J Med Genet 102:115-24. 2001
    ..We recommend radiographic survey of the patellae in patients at older age to investigate the weight of absent or hypoplastic patellae in the diagnosis of the syndrome...
  12. ncbi request reprint Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR
    F P Cremers
    Department of Human Genetics, University Hospital Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 7:355-62. 1998
    ..Since the heterozygote frequency for ABCR mutations is estimated at 0.02, mutations in ABCR might be an important cause of autosomal recessive and sporadic forms of RP and CRD...
  13. ncbi request reprint [From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes]
    E N Levtchenko
    Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen
    Ned Tijdschr Geneeskd 151:2377-80. 2007
    ..In the laboratory ofDNA diagnostics in the Radboud University Nijmegen Medical Centre, the molecular analysis of the CLCN5-gene in patients suspected with this disease is performed...
  14. ncbi request reprint Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus
    A M van den Ouweland
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Nat Genet 2:99-102. 1992
    ....
  15. doi request reprint Decreased bone density and treatment in patients with autosomal recessive cutis laxa
    C Noordam
    Departments of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Acta Paediatr 98:490-4. 2009
    ..Due to the occasional association pathological fractures and osteoporosis we evaluated four patients with cutis laxa syndrome for skeletal anomalies...
  16. ncbi request reprint Requirement of human renal water channel aquaporin-2 for vasopressin-dependent concentration of urine
    P M Deen
    Department of Cell Physiology, University of Nijmegen, Netherlands
    Science 264:92-5. 1994
    ..Functional expression studies in Xenopus oocytes revealed that each mutation resulted in nonfunctional water channel proteins. Thus, aquaporin-2 is essential for vasopressin-dependent concentration of urine...
  17. ncbi request reprint Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome
    M Konrad
    Department of Pediatrics, Philipps University, Marburg, Germany
    J Am Soc Nephrol 11:1449-59. 2000
    ..Interestingly, the phenotype elicited by CLCNKB mutations occasionally includes HPS/aBS, as well as a Gitelman-like phenotype...
  18. ncbi request reprint Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
    R Birkenhäger
    University Children s Hospital, Freiburg University, D 79106 Freiburg, Germany
    Nat Genet 29:310-4. 2001
    ..The gene encodes a hitherto unknown protein with two putative transmembrane alpha-helices and thus might function as a regulator for ion-transport proteins involved in aBS, or else as a new transporter or channel itself...
  19. ncbi request reprint New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels
    S M Mulders
    Department of Cell Physiology, University of Nijmegen, The Netherlands
    J Am Soc Nephrol 8:242-8. 1997
    ..In summary, two mutant AQP2 proteins encoded in NDI are functional water channels. Therefore, the major cause underlying autosomal recessive NDI is the misrouting of AQP2 mutant proteins...
  20. ncbi request reprint Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene
    S Weber
    Department of Pediatrics, Philipps University, Marburg, Germany
    Eur J Hum Genet 8:414-22. 2000
    ..This study confirms the implication of paracellin-1 defects in FHHNC and points to a predominant role of this protein in the paracellular reabsorption of divalent cations in the TAL...