- The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians
Department of Women s and Children s Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
Sex Dev 6:292-7. 2012
..In conclusion, the SF-1 gene may not play a significant role in the development of hypospadias in Caucasians...
- The CAG repeat polymorphism in the androgen receptor gene modifies the risk for hypospadias in Caucasians
Department of Women s and Children s Health and Center of Molecular Medicine CMM, Karolinska Institutet, SE 171 76 Stockholm, Sweden
BMC Med Genet 13:109. 2012
..In the present study, we aimed at investigating the role of the CAG repeat length in the AR gene in hypospadias cases as compared to the controls. Our study included 211 hypospadias and 208 controls of Caucasian origin...
- Microalterations of inherently unstable genomic regions in rat mammary carcinomas as revealed by long oligonucleotide array-based comparative genomic hybridization
Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, Wisconsin, USA
Cancer Res 69:5159-67. 2009
- Identification of novel carcinogen-mediated mammary tumor susceptibility loci in the rat using the chromosome substitution technique
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
Genes Chromosomes Cancer 49:1035-45. 2010
- Genetic mapping of mammary tumor traits to rat chromosome 10 using a novel panel of consomic rats
Human and Molecular Genetics Center, Medical College of Wisconsin, Milwaukee, WI 53226 0509, USA
Cancer Genet Cytogenet 186:41-8. 2008
..This novel approach should accelerate positional cloning of mammary cancer susceptibility and resistant genes in the rat and the identification of homologous genes in humans...
- A rare microduplication in a familial case of annular pancreas and duodenal stenosis
Department of Women s and Children s Health, and Center of Molecular Medicine CMM02, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
J Pediatr Surg 47:2039-43. 2012
..The aim of our study was to perform molecular investigations in this rare and familial congenital malformation...
- Novel mutations in the MNX1 gene in two families with Currarino syndrome and variable phenotype
Department of Women s and Children s Health and Center for Molecular Medicine CMM02, Karolinska Institutet, SE 171 76 Stockholm, Sweden
Gene 507:50-3. 2012
..In conclusion, we detected two novel mutations in the MNX1 gene in cases with CS, which supports mutational analysis in the diagnosis of CS, even though the variability in the genotype and phenotype correlation maintains...
- Rearrangement and allelic imbalance on chromosome 5 leads to homozygous deletions in the CDKN2A/2B tumor suppressor gene region in rat endometrial cancer
Human and Molecular Genetics Center, Medical College of Wisconsin, HRC 5th Floor, 8701 Watertown Plank Road, Milwaukee, WI 53226 0509, USA
Cancer Genet Cytogenet 184:9-21. 2008
..We conclude that genetic events affecting the middle part of RNO5 (including bands 5q31 approximately q33 and the CDKN2A locus) contribute to the development of EAC in rat, with the CDKN2A locus having a primary role...