Mutations in Frizzled 6 Cause Isolated Autosomal-Recessive Nail Dysplasia

Anne-Sophie Fröjmark, Jens Schuster, Maria Sobol, +8

The American Journal of Human Genetics

Developmental AnomalyThumb HypoplasiaDevelopmental BiologyGenetic DisorderGenetics +3

High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction

Dana Gabriková, Jarmila Bernasovská, Jitka Sokolová, +1

Urolithiasis

GlomerulonephritisUrologyRenal FunctionMedicineGenetics +11

INCIDENCE OF MICRODELETIONS IN THE AZF REGION OF THE Y CHROMOSOME IN SLOVAK PATIENTS WITH AZOOSPERMIA

R Behulová, Ivan Varga, Lubica Strhakova, +4

Biomedical Papers

Association of the FTO rs9939609 polymorphism with obesity in Roma/Gypsy population

Soňa Mačeková, Ivan Bernasovský, Dana Gabriková, +9

American Journal of Physical Anthropology

Familiar Meniere's disease restricted to 1.48 Mb on chromosome 12p12.3 by allelic and haplotype association

Dana Gabriková, Carina Frykholm, Ulla Friberg, +4

Journal of Human Genetics

Chromosome 12P12.3Haplotype AssociationAllelic VariantMendelian DisorderFamiliar Meniere +5

Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia

Dana Gabriková, Martin Mistrík, Jarmila Bernasovská, +4

Journal of Applied Genetics

Hk1 GenesMendelian DisorderGenetic DisorderGeneticsNeuroepidemiology +7

Y-SNP analysis versus Y-Haplogroup Predictor in the Slovak population

Eva Petrejčíková, Jana Čarnogurská, Danica Hronská, +5

Anthropologischer Anzeiger

GeneticsGenetic EpidemiologyHuman PolymorphismGenomicsGenetic Analysis +14

Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in Roma children

Dimitar N. Azmanov, M. Ivanova, Teodora Chamova, +25

Molecular Genetics and Metabolism

Ethnic Differences in the Association of Thrombophilic Polymorphisms with Obstetric Complications in Slovak and Roma (Gypsy) Populations

Alexandra Bôžiková, Dana Gabriková, Jozef Pitonak, +3

Genetic Testing and Molecular Biomarkers

Genetic variation analysis of 15 autosomal STR loci in Eastern Slovak Caucasian and Romany (Gypsy) population

Miroslav Soták, Eva Petrejčíková, Jarmila Bernasovská, +6

Forensic Science International Genetics

Allelic VariantGenotype-phenotype AssociationHuman VariationEastern Slovak CaucasianMedicine +8