geenivirheet

name

• geenivirheet

Works about geenivirheet

• Assessment of copy number variations in the nebulin gene and other nemaline myopathy-causing genes
• Bioinformatic solutions for chromosomal copy number analysis in cancer
• Candidate genes for coronary heart disease in patients with type 2 diabetes : studies on the fatty acid-binding protein 2, [beta][sub 3]-adrenergic receptor, receptor for advanced glycation end products, apolipoprotein A1 and endothelial nitric oxide synthase genes
• Childhood-onset mitochondrial diseases : with emphasis on molecular diagnostics of neurological disorders
• CLN5 - from mutation to defective protein and clinical phenotype
• Collagen XVII and pathomechanisms of junctional epidermolysis bullosa and gestational pemphigoid
• ER stress, regulation of autophagy and UPS in cellular models of Huntington's disease
• Familial dyslexia : genetic and neuropsychological findings
• Functional characterization of MutS homologue mismatch repair proteins and their variants
• Gene therapy in the treatment of familial hypercholesterolemia : evaluation and development of viral vectors and gene transfer techniques
• Genetic and functional studies of severe ventricular arrhythmias
• Genetic backround and phenotype of autosomal dominant polycystic kidney disease in eastern Finland
• Genetic basis of familial lymphoma predisposition
• Genetic factors in bone disorders : osteogenesis imperfecta, juvenile osteoporosis and stress fractures
• Genetic predisposition to breast and ovarian cancer in Eastern Finnish population
• Genetic studies of the human complement C4 region in MHC class III
• Genetic studies on recurrent miscarriage
• Genetic studies on susceptibility genes in osteoarthritis
• Genetics of dilated cardiomyopathy in the eastern Finnish population
• Genomic and expression analysis of the congenital chloride diarrhea gene
• Genotype-phenotype correlations in dilated cardiomyopathy
• Germline mutations of BRCA1 and BRCA2 genes : founder effects and contribution to ovarian carcinoma in Finland
• Human peroxisomal multifunctional enzyme type 2 (HsMFE-2) : full-length protein assembly and disease-causing mutations
• Identification of novel mutations and molecular pathways for canine neurodegeneration and chondrodysplasia
• Identification of novel tumor predisposition families and underlying genetic defects
• Identification of the Meckel syndrome gene (MKS1) exposes a novel ciliopathy
• Kuka päättää geenitutkimuksiin osallistumisesta? : normatiivinen ja sosiologinen analyysi bayesilaisen menetelmän kelpoisuudesta avuksi
• Molecular and clinical characteristics of pituitary adenoma predisposition (PAP)
• Molecular background of three lethal fetal syndromes
• Molecular basis of coagulation factor XIII deficiency
• Molecular basis of hereditary leiomyomatosis and renal cell cancer (HLRCC)
• Molecular genetic background of tumours in hereditary leiomyomatosis and renal cell cancer syndrome
• Molecular genetic studies of melanocortin receptors in morbid obesity
• Molecular genetic studies on nemaline myopathy and related disorders
• Molecular genetics of autism spectrum disorders in the Finnish population
• Molecular genetics of autosomal recessive congenital ichthyosis
• Molecular genetics of Meckel syndrome : ciliary genes are defective in MKS
• Molecular genetics of rare puberty disorders in Finland and Denmark
• Molecular genetics of severe ventricular arrhythmias
• Molecular genetics of severe ventricular arrhytmias
• Molecular genetics of the GRACILE syndrome (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis and early death)
• Molecular genetics of the immotile short tail sperm defect
• Molecular genetics of Usher syndrome -inherited deafness and blindness
• Molecular genetics of variegate porphyria in Finland
• Molecular genetics of X-linked cone-rod dystrophy and Åland Island eye disease
• Molecular pathogenesis of Salla disease
• Monogenic model for autoimmune diseases : molecular basis of autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy (APECED)
• Ne geenit! Ne geenit!
• Neuronal ceroid lipofuscinosis CLN8 : from gene to protein
• Novel genetic defects in titinopathies and other muscular dystrophies
• Novel insights into the molecular genetic background of colorectal tumors
• Novel player in uterine leiomyomas
• Phenotypic and genotypic features of familial hypodontia
• Positional cloning of the usher syndrome type 3 gene (USH3)
• Predisposing and modifying genes in hereditary colorectal cancer syndromes
• Recognizing Lynch syndrome by DNA mismatch repair deficiency
• Studies on the molecular pathogenesis of neuronal ceroid lipofuscinoses in the animal models of CLN8 and CLN10
• Susceptibility genes in hereditary breast cancer
• The molecular background of severe mitochondrial respiratory chain deficiencies in children and adults, with special emphasis on mitochondrial cardiomyopathies
• The molecular basis of hydrolethalus syndrome
• The role of AIP and CDKN1B/p27 [sup]Kip1 in endocrine neoplasia
• The role of BACH1, BARD1 and TOPBP1 genes in familial breast cancer
• Transposon vectors for gene therapy :
• Two genes behind PLOSL : molecular and pathological characteristics of the disease