Jacques C Giltay
Affiliation: University Medical Center Utrecht
Country: The Netherlands
- Klinefelter syndrome: clinical and molecular aspectsJacques 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...
- Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral refluxAlbertien 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...
- 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...
- Attitudes of Klinefelter men and their relatives towards TESE-ICSIMerel 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...
- Psychiatric morbidity and X-chromosomal origin in a Klinefelter sampleMarco 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...
- Two cases with partial trisomy 9p: molecular cytogenetic characterization and clinical follow-upAnnemieke 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...
- No pathogenic mutations in the uroplakin III gene of 25 patients with primary vesicoureteral refluxJacques 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...
- Apparent primary follicle-stimulating hormone deficiency is a rare cause of treatable male infertilityJacques 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...