R J Sinke

Summary

Affiliation: University Medical Center
Country: The Netherlands

Publications

  1. ncbi request reprint Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families
    R J Sinke
    Department of Medical Genetics, University Medical Center Utrecht, KC04 084 2, PO Box 85090, 3508 AB Utrecht, The Netherlands
    Arch Neurol 58:1839-44. 2001
  2. pmc A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q
    S C Bakker
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Am J Hum Genet 72:1251-60. 2003
  3. ncbi request reprint Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3
    D S Verbeek
    Department of Biomedical Genetics, Stratenum 2 112, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG, The Netherlands
    Brain 127:2551-7. 2004
  4. ncbi request reprint An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia
    B J Jungerius
    Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Mol Psychiatry 13:1060-8. 2008
  5. ncbi request reprint Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study
    J C Giltay
    University Medical Center Utrecht, Department of Medical Genetics, The Netherlands
    Eur J Pediatr 160:154-8. 2001
  6. ncbi request reprint Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)
    R Hochstenbach
    Department of Biomedical Genetics, University Medical Center Utrecht, The Netherlands
    Prenat Diagn 25:1032-9. 2005
  7. ncbi request reprint Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12-->q13
    P M Deen
    Department of Physiology, University of Nijmegen, The Netherlands
    Cytogenet Cell Genet 66:260-2. 1994
  8. pmc The human E48 antigen, highly homologous to the murine Ly-6 antigen ThB, is a GPI-anchored molecule apparently involved in keratinocyte cell-cell adhesion
    R H Brakenhoff
    Department of Otorhinolaryngology, Free University Hospital, The Netherlands
    J Cell Biol 129:1677-89. 1995
  9. ncbi request reprint Association between an agouti-related protein gene polymorphism and anorexia nervosa
    T Vink
    Molecular Neuroscience, Rudolf Magnus Institute for Neurosciences, University Medical Center, Utrecht, The Netherlands
    Mol Psychiatry 6:325-8. 2001

Collaborators

Detail Information

Publications9

  1. ncbi request reprint Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families
    R J Sinke
    Department of Medical Genetics, University Medical Center Utrecht, KC04 084 2, PO Box 85090, 3508 AB Utrecht, The Netherlands
    Arch Neurol 58:1839-44. 2001
    ..Mild CAG repeat expansions in the alpha(1A) voltage-dependent calcium channel gene are associated with SCA type 6 (SCA6)...
  2. pmc A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q
    S C Bakker
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Am J Hum Genet 72:1251-60. 2003
    ..04 and 2.05 were found for chromosome regions 7p and 9q in the narrow phenotype. Except for a region on chromosome 5, no overlap was found with regions mentioned in the only other independent genome scan in ADHD reported to date...
  3. ncbi request reprint Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3
    D S Verbeek
    Department of Biomedical Genetics, Stratenum 2 112, University Medical Center Utrecht, Universiteitsweg 100, 3584 CG, The Netherlands
    Brain 127:2551-7. 2004
    ..In addition to the recently identified SCA14, SCA19 and FGF14 families, SCA23 is yet another novel SCA locus in the Dutch ADCA population, which further defines the genetic heterogeneity of ADCA families in the Netherlands...
  4. ncbi request reprint An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophrenia
    B J Jungerius
    Complex Genetics Section, DBG Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Mol Psychiatry 13:1060-8. 2008
    ..01). Our approach--of screening genes involved in a particular pathway for association--resulted in identification of several, mostly novel, genes associated with the risk of developing schizophrenia in the Dutch population...
  5. ncbi request reprint Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study
    J C Giltay
    University Medical Center Utrecht, Department of Medical Genetics, The Netherlands
    Eur J Pediatr 160:154-8. 2001
    ..This case also underlines the importance of karyotyping patients with unexplained short stature to enable gonadectomy if Y-derived material is detected...
  6. ncbi request reprint Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)
    R Hochstenbach
    Department of Biomedical Genetics, University Medical Center Utrecht, The Netherlands
    Prenat Diagn 25:1032-9. 2005
    ..To test whether multiplex ligation-dependent probe amplification (MLPA) can be used for the detection of aneuploidy of chromosomes 13, 18, 21, X, and Y in uncultured amniocytes...
  7. ncbi request reprint Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12-->q13
    P M Deen
    Department of Physiology, University of Nijmegen, The Netherlands
    Cytogenet Cell Genet 66:260-2. 1994
    ..Additionally, in situ hybridization on R-banded metaphase chromosomes localized AQP2 to the q12-->q13 region of this chromosome...
  8. pmc The human E48 antigen, highly homologous to the murine Ly-6 antigen ThB, is a GPI-anchored molecule apparently involved in keratinocyte cell-cell adhesion
    R H Brakenhoff
    Department of Otorhinolaryngology, Free University Hospital, The Netherlands
    J Cell Biol 129:1677-89. 1995
    ..Transfection of mouse SV40-polyoma transformed mouse NIH/3T3 cells with the E48 cDNA confirmed that the antigen is likely to be involved in cell-cell adhesion...
  9. ncbi request reprint Association between an agouti-related protein gene polymorphism and anorexia nervosa
    T Vink
    Molecular Neuroscience, Rudolf Magnus Institute for Neurosciences, University Medical Center, Utrecht, The Netherlands
    Mol Psychiatry 6:325-8. 2001
    ..These results implicate that antagonism of the MC4-r might be considered as pharmacotherapy for patients with AN...