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Clinal patterns of autosomal genetic diversity within Europe have been interpreted in previous studies in terms of a Neolithic demic diffusion model for the spread of agriculture; in contrast, studies using mtDNA have traced many founding lineages to the Paleolithic and have not shown strongly clinal variation. We have used 11 human Y-chromosomal biallelic(More)
We present BITOLA, an interactive literature-based biomedical discovery support system. The goal of this system is to discover new, potentially meaningful relations between a given starting concept of interest and other concepts, by mining the bibliographic database MEDLINE. To make the system more suitable for disease candidate gene discovery and to(More)
BACKGROUND The objective of this study was to estimate the frequency of Y chromosome microdeletions in the Slovenian population of infertile men and to analyse the consequences of mutation in respect to clinical severity and prognosis. METHODS In a controlled clinical study at the university-based medical genetics service and infertility clinic, 226(More)
OBJECTIVES Although autonomic dysfunction was found in advanced Huntington's disease (HD) patients it is not clear whether there is autonomic dysfunction in presymptomatic and early symptomatic HD. MATERIAL & METHODS Different cardiovascular autonomic tests were performed in 14 presymptomatic HD mutation carriers (PHD), 11 early symptomatic HD patients(More)
There are controversies in reports on the association of polymorphisms in endothelial nitric oxide synthase, angiotensinogen, angiotensin receptor type 1 and angiotensin-converting enzyme genes with an increased risk of developing preeclampsia. We performed a systematic search of published case-control studies through the PubMed database up to January 2006,(More)
To investigate whether Huntington's disease (HD) affects autonomic nervous system (ANS) functioning 33 subjects with positive genetic test results were studied. The subjects were classified according to Shoulson and Fahn (S&F) HD disability scale into three subgroups: subgroup 1 (eight asymptomatic gene carriers), subgroup 2 (13 mildly disabled HD patients)(More)
OBJECTIVE To determine whether cryptorchidism associated with azoospermia or oligozoospermia may be due to microdeletions of the Y chromosome. DESIGN Controlled clinical study. SETTINGS Division of Medical Genetics and the Andrology Centre, Department of Obstetrics and Gynecology, University Medical Center, Ljubljana. PATIENT(S) Ninety men from(More)
BACKGROUND Fragile X premutation carriers are at increased risk of premature ovarian failure (POF), which is usually defined as menopause before the age of 40 years. METHODS We evaluated 83 women with sporadic premature ovarian failure, treated at the Department of Obstetrics and Gynaecology, University Medical Centre, Ljubljana, between 1991 and 2001.(More)
The aim of the study was to define the relevance of deletions and duplications within the DAZ gene cluster to male factor infertility in a population of 90 infertile men and a control of 50 fertile men using real-time polymerase chain reaction (PCR). We conclude that partial deletions of the DAZ genes are associated with oligozoospermia but not with(More)