Published in Clin Genet on May 01, 1981
Unknown syndrome: holoprosencephaly, congenital heart defects, and polydactyly. J Med Genet (1987) 2.45
Atrioventricular septal defect and type A postaxial polydactyly without other major associated anomalies: a specific association. Pediatr Cardiol (1996) 2.03
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
Absence makes the search grow longer. Am J Hum Genet (1996) 1.38
The Finnish Disease Heritage III: the individual diseases. Hum Genet (2003) 1.36
High incidence of Meckel's syndrome in Gujarati Indians. J Med Genet (1985) 1.24
Behaviour disorder in monosomy 10qter. J Med Genet (1987) 1.19
The lethal multiple congenital anomaly syndrome of polydactyly, sex reversal, renal hypoplasia, and unilobular lungs. J Med Genet (1986) 1.15
Primary cilia in neurodevelopmental disorders. Nat Rev Neurol (2013) 1.14
Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. Am J Hum Genet (1999) 1.11
A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems. Am J Hum Genet (2009) 1.08
Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome. J Med Genet (1988) 0.99
Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome. J Med Genet (1990) 0.97
A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Orphanet J Rare Dis (2012) 0.90
Hydrolethalus syndrome. J Med Genet (1990) 0.87
Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study. J Med Genet (1991) 0.86
Prognostic signs in fetal hydrocephalus. Childs Nerv Syst (1986) 0.85
Unraveling the disease pathogenesis behind lethal hydrolethalus syndrome revealed multiple changes in molecular and cellular level. Pathogenetics (2009) 0.76
Malformations in different ethnic groups. Arch Dis Child (1987) 0.75
A case of congenital syndromic hydrocephalus: a subtype of 'game-friedman-paradice syndrome'. Oman Med J (2013) 0.75
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome. Mol Cell (1998) 9.85
High stored iron levels are associated with excess risk of myocardial infarction in eastern Finnish men. Circulation (1992) 7.11
Autoantibody against oxidised LDL and progression of carotid atherosclerosis. Lancet (1992) 7.09
Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A (2001) 3.31
A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet (1981) 3.04
Increased nuchal translucency as a marker for fetal chromosomal defects. N Engl J Med (1997) 3.01
Intake of mercury from fish, lipid peroxidation, and the risk of myocardial infarction and coronary, cardiovascular, and any death in eastern Finnish men. Circulation (1995) 2.99
Hereditary diseases in Finland; rare flora in rare soul. Ann Clin Res (1973) 2.75
Perceived health status and morbidity and mortality: evidence from the Kuopio ischaemic heart disease risk factor study. Int J Epidemiol (1996) 2.73
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) Science (1996) 2.73
Moderately intense physical activities and high levels of cardiorespiratory fitness reduce the risk of non-insulin-dependent diabetes mellitus in middle-aged men. Arch Intern Med (1996) 2.49
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet (1993) 2.46
Pericentric inversions of human chromosomes 9 and 10. Am J Hum Genet (1974) 2.40
Ultrasound B-mode imaging in observational studies of atherosclerotic progression. Circulation (1993) 2.31
Ultrasonographically assessed carotid morphology and the risk of coronary heart disease. Arterioscler Thromb (1991) 2.11
Relation of leisure-time physical activity and cardiorespiratory fitness to the risk of acute myocardial infarction. N Engl J Med (1994) 2.09
The Meckel syndrome: clinicopathological findings in 67 patients. Am J Med Genet (1984) 2.06
HDL, HDL2, and HDL3 subfractions, and the risk of acute myocardial infarction. A prospective population study in eastern Finnish men. Circulation (1991) 1.94
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet (1998) 1.85
C-reactive protein and the development of the metabolic syndrome and diabetes in middle-aged men. Diabetologia (2004) 1.85
Body iron stores are associated with serum insulin and blood glucose concentrations. Population study in 1,013 eastern Finnish men. Diabetes Care (1997) 1.80
Serum copper and the risk of acute myocardial infarction: a prospective population study in men in eastern Finland. Am J Epidemiol (1991) 1.73
Increased risk of non-insulin dependent diabetes mellitus at low plasma vitamin E concentrations: a four year follow up study in men. BMJ (1995) 1.70
Exercise-induced silent myocardial ischemia and coronary morbidity and mortality in middle-aged men. J Am Coll Cardiol (2001) 1.70
Effects of antioxidant supplementation on platelet function: a randomized pair-matched, placebo-controlled, double-blind trial in men with low antioxidant status. Am J Clin Nutr (1991) 1.69
Interactions of serum copper, selenium, and low density lipoprotein cholesterol in atherogenesis. BMJ (1991) 1.64
Increased risk of cancer in patients with fumarate hydratase germline mutation. J Med Genet (2005) 1.61
Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment. Am J Med Genet (1984) 1.61
Cohort study of relation between donating blood and risk of myocardial infarction in 2682 men in eastern Finland. BMJ (1997) 1.61
Does low socioeconomic status potentiate the effects of heightened cardiovascular responses to stress on the progression of carotid atherosclerosis? Am J Public Health (1998) 1.51
Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity. Clin Genet (1984) 1.50
Socioeconomic status and progression of carotid atherosclerosis. Prospective evidence from the Kuopio Ischemic Heart Disease Risk Factor Study. Arterioscler Thromb Vasc Biol (1997) 1.48
Familial cutaneous leiomyomatosis is a two-hit condition associated with renal cell cancer of characteristic histopathology. Am J Pathol (2001) 1.46
A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL. J Mol Med (Berl) (2001) 1.46
Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am J Hum Genet (1995) 1.46
Socioeconomic status and carotid atherosclerosis. Circulation (1995) 1.45
Collagenase-3 (MMP-13) is expressed by hypertrophic chondrocytes, periosteal cells, and osteoblasts during human fetal bone development. Dev Dyn (1997) 1.44
Hopelessness and 4-year progression of carotid atherosclerosis. The Kuopio Ischemic Heart Disease Risk Factor Study. Arterioscler Thromb Vasc Biol (1997) 1.42
The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population. Am J Hum Genet (1996) 1.41
Consistency of response to sumatriptan nasal spray across patient subgroups and migraine types. Cephalalgia (1998) 1.41
The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am J Med Genet (1984) 1.41
Mercury accumulation and accelerated progression of carotid atherosclerosis: a population-based prospective 4-year follow-up study in men in eastern Finland. Atherosclerosis (2000) 1.41
Cohen syndrome: essential features, natural history, and heterogeneity. Am J Med Genet (2001) 1.40
Behavioral and histopathologic effects following intrathecal administration of butorphanol, sufentanil, and nalbuphine in sheep. Anesthesiology (1991) 1.39
Down's syndrome screening in multiple pregnancies using alpha-fetoprotein and free beta hCG. Prenat Diagn (1994) 1.39
Risk of cancer in relation to serum concentrations of selenium and vitamins A and E: matched case-control analysis of prospective data. Br Med J (Clin Res Ed) (1985) 1.32
Cardiovascular fitness as a predictor of mortality in men. Arch Intern Med (2001) 1.32
Progressive myoclonus epilepsy. A clinical and histopathological study. Acta Neurol Scand (1974) 1.32
Heredity in the congenital nephrotic syndrome. A genetic study of 57 finnish FAMILIES WITH A REVIEW OF REPORTED CASES. Ann Paediatr Fenn (1966) 1.30
Abdominal obesity is associated with accelerated progression of carotid atherosclerosis in men. Atherosclerosis (2001) 1.29
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci U S A (1991) 1.27
Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene. J Clin Endocrinol Metab (1996) 1.27
The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24. Nat Genet (1995) 1.27
Interaction of workplace demands and cardiovascular reactivity in progression of carotid atherosclerosis: population based study. BMJ (1997) 1.26
Fetal nuchal translucency and normal chromosomes: a long-term follow-up study. Ultrasound Obstet Gynecol (2001) 1.26
A large pericentric inversion of human chromosome 8. Am J Hum Genet (1976) 1.25
Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet (1997) 1.24
Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients. Clin Genet (1979) 1.24
Monoamine oxidase deficiency in males with an X chromosome deletion. Neuron (1989) 1.23
Extensive somatic microsatellite mutations in normal human tissue. Cancer Res (2001) 1.22
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Clin Genet (1991) 1.21
Congenital nephrotic syndrome. Nephron (1973) 1.19
Role of nephrin in cell junction formation in human nephrogenesis. Am J Pathol (2000) 1.19
Workplace demands, economic reward, and progression of carotid atherosclerosis. Circulation (1997) 1.19
Association between plasma fibrinogen concentration and five socioeconomic indices in the Kuopio Ischemic Heart Disease Risk Factor Study. Am J Epidemiol (1993) 1.18
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet (1997) 1.18
Cerebroretinal microangiopathy with calcifications and cysts. Neurology (2006) 1.16
Cardiorespiratory fitness and the progression of carotid atherosclerosis in middle-aged men. Ann Intern Med (2001) 1.14
Survival of human ovarian follicles from fetal to adult life: apoptosis, apoptosis-related proteins, and transcription factor GATA-4. J Clin Endocrinol Metab (2001) 1.13
Atrial myxoma in a family. Am J Cardiol (1976) 1.12
A lethal autosomal recessive syndrome of multiple congenital contractures. Am J Med Genet (1985) 1.12
Inherited interstitial del(Xp) with minimal clinical consequences: with a note on the location of genes controlling phenotypic features. Am J Med Genet (1979) 1.11
Main features of the congenital nephrotic syndrome. Acta Paediatr Scand (1967) 1.11
Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22. J Med Genet (2008) 1.11
Assignment of the locus for hydrolethalus syndrome to a highly restricted region on 11q23-25. Am J Hum Genet (1999) 1.11
Exaggerated blood pressure responses during mental stress are associated with enhanced carotid atherosclerosis in middle-aged Finnish men: findings from the Kuopio Ischemic Heart Disease Study. Circulation (1997) 1.11
Vitamin C deficiency and risk of myocardial infarction: prospective population study of men from eastern Finland. BMJ (1997) 1.10
Risk of malignancy and death in neurofibromatosis. Arch Pathol Lab Med (1997) 1.10
Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis. Clin Genet (1985) 1.10
Antioxidant Supplementation in Atherosclerosis Prevention (ASAP) study: a randomized trial of the effect of vitamins E and C on 3-year progression of carotid atherosclerosis. J Intern Med (2000) 1.10
Body iron stores and the risk of coronary heart disease. N Engl J Med (1994) 1.09
Donation of blood is associated with reduced risk of myocardial infarction. The Kuopio Ischaemic Heart Disease Risk Factor Study. Am J Epidemiol (1998) 1.07
Expression of transcription factor GATA-4 during human testicular development and disease. J Clin Endocrinol Metab (2000) 1.06
Inhibition of platelet aggregability by moderate-intensity physical exercise: a randomized clinical trial in overweight men. Circulation (1986) 1.05
An insertion/deletion polymorphism in the alpha2B-adrenergic receptor gene is a novel genetic risk factor for acute coronary events. J Am Coll Cardiol (2001) 1.04
Blood pressure and the progression of carotid atherosclerosis in middle-aged men. Hypertension (1999) 1.04
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nat Genet (1994) 1.04
Matrix metalloproteinase 2 (MMP-2) immunoreactive protein is associated with poor grade and survival in brain neoplasms. J Neurooncol (2000) 1.02
Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families. Clin Genet (1971) 1.02
Pattern of alcohol drinking and progression of atherosclerosis. Arterioscler Thromb Vasc Biol (1999) 1.01
Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1. Am J Hum Genet (1995) 1.01
Hereditary dementia with intracerebral hemorrhages and cerebral amyloid angiopathy. Neurology (2004) 1.01
Semliki Forest virus infects mouse brain endothelial cells and causes blood-brain barrier damage. J Virol (1994) 1.01
Refined mapping of the Cohen syndrome gene by linkage disequilibrium. Eur J Hum Genet (1998) 1.01
Lipoprotein oxidation and progression of carotid atherosclerosis. Circulation (1997) 1.00
Dominant inheritance of tooth malpositions and their association to hypodontia. Clin Genet (1988) 1.00
Relationship of serum selenium and antioxidants to plasma lipoproteins, platelet aggregability and prevalent ischaemic heart disease in Eastern Finnish men. Atherosclerosis (1988) 1.00
Hostility and the progression of carotid atherosclerosis. Psychosom Med (1995) 1.00