Genomes and Genes
R J Sinke
Affiliation: University Medical Center
Country: The Netherlands
- Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch familiesR 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)...
- A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15qS 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...
- Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3D 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...
- An association screen of myelin-related genes implicates the chromosome 22q11 PIK4CA gene in schizophreniaB 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...
- Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic studyJ 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...
- 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...
- Assignment of the human gene for the water channel of renal collecting duct Aquaporin 2 (AQP2) to chromosome 12 region q12-->q13P 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...
- The human E48 antigen, highly homologous to the murine Ly-6 antigen ThB, is a GPI-anchored molecule apparently involved in keratinocyte cell-cell adhesionR 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...
- Association between an agouti-related protein gene polymorphism and anorexia nervosaT 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...