Eva B. Holmberg

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Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is genetically heterogenous and approximately 35% of patients carry mutations in either of the SPG11 or SPG15 genes. Disease onset is during the first three decades of life with spastic paraplegia and mental impairment. Peripheral neuropathy and amyotrophy may occur.(More)
The present study performed a segregation analysis of a cohort of first-degree relatives (FDR) of glioma patients. The families with two or more gliomas were also expanded to determine if any more gliomas could be detected, and if any other types of cancers were associated. These glioma-prone families (n = 24/432) were extended to include first-, second-(More)
An important clinical issue concerns the efficacy of current voice therapy approaches in treating voice disorders, such as vocal nodules. Much research focuses on finding reliable methods for documentation of treatment results. In this second treatment study of ten patients with vocal nodules, who participated in a behaviorally based voice therapy program,(More)
This paper demonstrates that linear discriminant analysis using aerodynamic and acoustic features is effective in discriminating speakers with vocal-fold nodules from normal speakers. Simultaneous aerodynamic and acoustic measurements of vocal function were taken of 14 women with bilateral vocal-fold nodules and 12 women with normal voice production.(More)
Exposure to ionizing radiation is a known risk factor for breast cancer and the fertility pattern is a recognized modifier of breast cancer risk. The aim of this study was to elucidate the interaction between these 2 factors. This study is based on a Swedish cohort of 17 202 women who had been irradiated for skin haemangiomas in infancy between 1920 and(More)
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by decreased levels of survival motor neuron protein (SMN). In the majority of cases, this decrease is due to absence of the SMN1 gene. Multiplex ligation-dependent probe amplification (MLPA) is a modern quantitative molecular method. Applied in SMA cases, it improves diagnostics by(More)
Large deletions in the APC (adenomatous polyposis coli) gene, causing familial adenomatous polyposis (FAP), cannot easily be detected by conventional mutation-detection techniques. Therefore, we have developed two independent quantitative methods for the detection of large deletions, encompassing one or more exons, of APC. Multiplex ligation-dependent probe(More)
Familial predisposition to basal cell carcinoma (BCC) and squamous cell carcinoma (SCC) of the skin are apparent in the autosomal dominant syndromes naevoid basal cell carcinoma syndrome (NBCCS) and multiple self-healing squamous epitheliomata (MSSE) respectively. The gene responsible for NBCCS has been proposed to be a tumour-suppressor gene and is mapped(More)
Reference data for speech range profiles (SRP), voice range profiles (VRP), and Voice Handicap Index (VHI) are presented for Swedish males (n = 30). For comparisons, individual data for four male contact granuloma patients are also reported. For the vocally healthy group mean values were: speaking fundamental frequency 123 Hz (SD 12.1), speaking equivalent(More)
BACKGROUND Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos syndrome (EDS)-phenotype. METHODS We performed biochemical and molecular analysis of type I (pro-) collagen(More)