Jacques C Giltay

Summary

Affiliation: University Medical Center Utrecht
Country: The Netherlands

Publications

  1. doi request reprint Klinefelter syndrome: clinical and molecular aspects
    Jacques C Giltay
    University Medical Centre Utrecht, Department of Medical Genetics, Utrecht, The Netherlands
    Expert Rev Mol Diagn 10:765-76. 2010
  2. pmc Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux
    Albertien M van Eerde
    Department of Medical Genetics KC 04 084 2, University Medical Centre Utrecht, P O Box 85090, 3508 AB, Utrecht, The Netherlands
    Pediatr Nephrol 22:1129-33. 2007
  3. doi request reprint Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI)
    Femi Janse
    Department of Reproductive Medicine and Gynecology, University Medical Center Utrecht, Utrecht, The Netherlands
    Fertil Steril 97:141-6.e2. 2012
  4. pmc Attitudes of Klinefelter men and their relatives towards TESE-ICSI
    Merel C Maiburg
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    J Assist Reprod Genet 28:809-14. 2011
  5. ncbi request reprint Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample
    Marco P M Boks
    Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, Utrecht, The Netherlands
    Schizophr Res 93:399-402. 2007
  6. ncbi request reprint Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up
    Annemieke S Littooij
    Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands
    Am J Med Genet 109:125-32. 2002
  7. ncbi request reprint No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux
    Jacques C Giltay
    Department of Medical Genetics, University Medical Center Utrect, The Netherlands
    J Urol 171:931-2. 2004
  8. ncbi request reprint Apparent primary follicle-stimulating hormone deficiency is a rare cause of treatable male infertility
    Jacques C Giltay
    Department of Biomedical Genetics, University Medical Center, Utrecht, The Netherlands
    Fertil Steril 81:693-6. 2004

Collaborators

Detail Information

Publications8

  1. doi request reprint Klinefelter syndrome: clinical and molecular aspects
    Jacques C Giltay
    University Medical Centre Utrecht, Department of Medical Genetics, Utrecht, The Netherlands
    Expert Rev Mol Diagn 10:765-76. 2010
    ..Surgical procedures of obtaining sperm in combination with repeated intracytoplasmic sperm injection/in vitro fertilization treatment may allow up to one in four men with Klinefelter syndrome to father children...
  2. pmc Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux
    Albertien M van Eerde
    Department of Medical Genetics KC 04 084 2, University Medical Centre Utrecht, P O Box 85090, 3508 AB, Utrecht, The Netherlands
    Pediatr Nephrol 22:1129-33. 2007
    ..Our results provide further evidence that there appears to be genetic heterogeneity in VUR...
  3. doi request reprint Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI)
    Femi Janse
    Department of Reproductive Medicine and Gynecology, University Medical Center Utrecht, Utrecht, The Netherlands
    Fertil Steril 97:141-6.e2. 2012
    ..Mutations in the NR5A1 gene (SF-1) were previously described in disorders of sexual development and adrenal insufficiency. Recently, a high frequency of NR5A1 gene mutations was reported in a small group of women with POI...
  4. pmc Attitudes of Klinefelter men and their relatives towards TESE-ICSI
    Merel C Maiburg
    Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    J Assist Reprod Genet 28:809-14. 2011
    ..At the start of the implementation of TESE-ICSI for Klinefelter men in the Netherlands, we aimed to evaluate their wish to father children and their attitudes towards this artificial reproduction technique...
  5. ncbi request reprint Psychiatric morbidity and X-chromosomal origin in a Klinefelter sample
    Marco P M Boks
    Rudolf Magnus Institute of Neuroscience, Department of Psychiatry, Utrecht, The Netherlands
    Schizophr Res 93:399-402. 2007
    ..Nevertheless, these findings provide further support for the role of the X-chromosome in the susceptibility to psychiatric disorders in general and psychotic disorders in particular...
  6. ncbi request reprint Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-up
    Annemieke S Littooij
    Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands
    Am J Med Genet 109:125-32. 2002
    ..Such DNA studies will be necessary to define the genotype-phenotype relation in partial trisomy 9p syndrome...
  7. ncbi request reprint No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral reflux
    Jacques C Giltay
    Department of Medical Genetics, University Medical Center Utrect, The Netherlands
    J Urol 171:931-2. 2004
    ..Therefore, the UPIII gene was sequenced to see if any mutations could be detected in patients with primary VUR...
  8. ncbi request reprint Apparent primary follicle-stimulating hormone deficiency is a rare cause of treatable male infertility
    Jacques C Giltay
    Department of Biomedical Genetics, University Medical Center, Utrecht, The Netherlands
    Fertil Steril 81:693-6. 2004
    ..To find the underlying defect in a case of primary FSH deficiency and to estimate the beneficial effect of FSH treatment...