Published in Lakartidningen on June 17, 1981
Identification of the gene responsible for Best macular dystrophy. Nat Genet (1998) 4.89
Coexpression of the sis and myc proto-oncogenes in developing human placenta suggests autocrine control of trophoblast growth. Cell (1985) 2.06
Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol (1999) 2.02
Cancer risk in humans predicted by increased levels of chromosomal aberrations in lymphocytes: Nordic study group on the health risk of chromosome damage. Cancer Res (1994) 1.70
Syndrome characterized by lingual malformation, polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome). Clin Genet (1971) 1.56
Community-based study of neurological disorders in rural central Ethiopia. Neuroepidemiology (1990) 1.53
Growth retardation in Down syndrome in relation to insulin-like growth factors and growth hormone. Am J Med Genet Suppl (1990) 1.51
Solar disinfection of water for diarrhoeal prevention in southern India. Arch Dis Child (2006) 1.48
Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am J Hum Genet (1995) 1.46
The x-ray crystal structure refinements of normal human transthyretin and the amyloidogenic Val-30-->Met variant to 1.7-A resolution. J Biol Chem (1993) 1.42
Malnutrition and gastrointestinal dysfunction as prognostic factors for survival in familial amyloidotic polyneuropathy. J Intern Med (1994) 1.39
PMP22 Thr(118)Met: recessive CMT1 mutation or polymorphism? Nat Genet (1997) 1.39
The epidemiology of diabetes in Swedish children 0-14 years--a six-year prospective study. Diabetologia (1985) 1.34
Alpha-fetoprotein in antenatal diagnosis of congenital nephrosis. Lancet (1975) 1.34
Apparently non-deleted ring-1 chromosome and extreme growth failure in a mentally retarded girl. Clin Genet (1978) 1.34
Occupational and environmental risks in and around a smelter in northern Sweden. III. Frequencies of spontaneous abortion. Hereditas (1978) 1.30
Prevalence of the fragile-X syndrome in mentally retarded boys in a Swedish county. Am J Med Genet (1986) 1.30
Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene. Hum Mutat (1998) 1.28
Occupational and environmental risks in and around a smelter in northern Sweden. V. Spontaneous abortion among female employees and decreased birth weight in their offspring. Hereditas (1979) 1.26
Sjögren-Larsson syndrome in Sweden. A clinical, genetic and epidemiological study. Clin Genet (1981) 1.24
The incidence and genetics of metachromatic leucodystrophy in northern Sweden. Acta Paediatr Scand (1971) 1.23
Familial amyloidotic polyneuropathy in Sweden: geographical distribution, age of onset, and prevalence. Hum Hered (1993) 1.21
Different types of osteochondrodysplasia in a consecutive series of newborns. Helv Paediatr Acta (1975) 1.21
Oxidative stress is found in amyloid deposits in systemic amyloidosis. Biochem Biophys Res Commun (1997) 1.20
Chronic recurrent multifocal osteomyelitis and pustulosis palmoplantaris. J Pediatr (1978) 1.19
Familial amyloidotic polyneuropathy in Sweden: a pedigree analysis. J Med Genet (1993) 1.18
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. Eur J Hum Genet (2001) 1.17
Pustulosis palmoplantaris and its relation to chronic recurrent multifocal osteomyelitis. Dermatologica (1979) 1.17
Fragile X syndrome in mildly mentally retarded children in a northern Swedish county. A prevalence study. Clin Genet (1983) 1.16
The incidence of diabetes mellitus in Swedish children 0-14 years of age. A prospective study 1977-1980. Acta Paediatr Scand (1982) 1.15
Expanded CAG repeats in Swedish spinocerebellar ataxia type 7 (SCA7) patients: effect of CAG repeat length on the clinical manifestation. Hum Mol Genet (1998) 1.15
Suspected faulty essential fatty acid metabolism in Sjögren-Larsson syndrome. Pediatr Res (1982) 1.14
Delineation of a characteristic phenotype in distal trisomy 2q. Helv Paediatr Acta (1984) 1.12
Benign ovarian teratomas. An analysis of their cellular origin. Cancer Genet Cytogenet (1990) 1.12
Familial X-linked mental retardation and fragile X chromosomes in two Swedish families. Clin Genet (1981) 1.11
Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome. Hum Genet (1989) 1.11
Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Invest Ophthalmol Vis Sci (1999) 1.10
Deleted ring chromosome 22 in a mentally retarded boy. Clin Genet (1986) 1.09
Clinical and electroencephalographic characteristics of epilepsy in rural Ethiopia: a community-based study. Epilepsy Res (1990) 1.08
The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. Clin Genet (1992) 1.08
Severe mental retardation in a Swedish county. II. Etiologic and pathogenetic aspects of children born 1959--1970. Neuropadiatrie (1977) 1.08
Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia. Eur J Hum Genet (2000) 1.07
Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy. Clin Genet (1988) 1.06
The effect of superoxide dismutase and catalase on radiation-induced chromosome breaks. Hereditas (1976) 1.06
Sjögren-Larsson syndrome: inherited defect in the fatty alcohol cycle. J Pediatr (1989) 1.06
Identical syndromes of cerebral palsy in the same family. Acta Paediatr Scand (1969) 1.05
Hereditary transthyretin amyloidosis from a Scandinavian perspective. J Intern Med (2003) 1.05
Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25. Hum Mol Genet (1995) 1.05
Structurally abnormal transthyretin causing familial amyloidotic polyneuropathy in Sweden. Clin Chim Acta (1987) 1.05
Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13. Am J Hum Genet (1998) 1.04
Frequency of the fragile X syndrome in infantile autism. A Swedish multicenter study. Clin Genet (1985) 1.02
Three non-mongoloid patients of similar phenotype with an extra G-like chromosome. Clin Genet (1972) 1.02
Liver transplantation in familial amyloidotic polyneuropathy. Follow-up of the first 20 Swedish patients. Transplantation (1995) 1.02
Oro-facio-digital syndromes I and II: radiological methods for diagnosis and the clinical variations. Clin Genet (1984) 1.02
A prospective incidence study of febrile convulsions. Acta Paediatr Scand (1990) 1.02
An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res (1996) 1.02
Individual differences with respect to the sneezing reflex: an inherited physiological trait in man? Hum Hered (1983) 1.01
Mosaic trisomy of an autosome in the 6-12 group in a patient with multiple congenital anomalies. Acta Paediatr Scand (1967) 1.01
Vitreous amyloidosis associated with homozygosity for the transthyretin methionine-30 gene. Arch Ophthalmol (1990) 1.00
Fine mapping of Best's macular dystrophy localizes the gene in close proximity to but distinct from the D11S480/ROM1 loci. Genomics (1994) 1.00
Occupational and environmental risks in and around a smelter in northern Sweden. I. Variations in birth weight. Hereditas (1978) 1.00
Mutations and phenotype in isolated glycerol kinase deficiency. Am J Hum Genet (1996) 0.99
Attitudes of rural people in central Ethiopia towards epilepsy. Soc Sci Med (1991) 0.99
Linkage analysis of families with fragile-X mental retardation, using a novel RFLP marker (DXS 304). Am J Hum Genet (1989) 0.98
The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13. Hum Mol Genet (1994) 0.98
The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. Nat Genet (1994) 0.98
Epidemiology of motor neuron disease in northern Sweden. Acta Neurol Scand (1983) 0.98
Detection of expanded CAG repeats in bipolar affective disorder using the repeat expansion detection (RED) method. Neurobiol Dis (1995) 0.97
Effect of superoxide dismutase and catalase on spontaneously occurring chromosome breaks in patients with Fanconi's anemia. Hereditas (1977) 0.97
A gene for autosomal dominant progressive cone dystrophy (CORD5) maps to chromosome 17p12-p13. Genomics (1995) 0.97
Susceptibility to insulin-dependent diabetes defined by restriction enzyme polymorphism of HLA-D region genomic DNA. Diabetes (1984) 0.97
Autosomal dominant cerebellar ataxia deafness and narcolepsy. J Neurol Sci (1995) 0.97
An inter-Nordic prospective study on cytogenetic endpoints and cancer risk. Nordic Study Group on the Health Risk of Chromosome Damage. Cancer Genet Cytogenet (1990) 0.96
Catechol-O-methyltransferase activity in erythrocytes in Down's syndrome. Clin Genet (1973) 0.96
Localization of autosomal dominant cerebellar ataxia associated with retinal degeneration and anticipation to chromosome 3p12-p21.1. Hum Mol Genet (1995) 0.96
A prospective analysis of antibodies reacting with pancreatic islet cells in insulin-dependent diabetic children. Diabetologia (1981) 0.96
A community-based prospective incidence study of epileptic seizures in children. Acta Paediatr (1993) 0.96
Advanced catecholaminergic disturbances in the brain in a case of Wilson's disease. Acta Neurol Scand (1982) 0.96
Hypophosphatasia affecting the permanent dentition. J Oral Pathol Med (1996) 0.95
Amelogenesis imperfecta: a genetic study. Hum Hered (1988) 0.95
Occupational and environmental risks in and around a smelter in northern Sweden. IV. Chromosomal aberrations in workers exposed to lead. Hereditas (1978) 0.95
Fragile site X chromosomes and X-linked mental retardation in severely retarded boys in a northern Swedish county. A prevalence study. Clin Genet (1982) 0.94