Published in Clin Genet on June 01, 1978
An immunohistochemical study of the tissue bridging adult spondylolytic defects--the presence and significance of fibrocartilaginous entheses. Eur Spine J (2005) 0.90
Lumbar spondylolysis in juveniles from the same family: a report of three cases and a review of the literature. Case Rep Orthop (2013) 0.89
Dysplastic spondylolysis is caused by mutations in the diastrophic dysplasia sulfate transporter gene. Proc Natl Acad Sci U S A (2015) 0.86
Surgical Management of 3-Level Lumbar Spondylolyses. Medicine (Baltimore) (2015) 0.75
Hereditary diseases in Finland; rare flora in rare soul. Ann Clin Res (1973) 2.75
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) Science (1996) 2.73
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet (1993) 2.46
The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients. Clin Genet (1981) 2.15
Immunohistochemical study of colorectal tumors for expression of a novel transmembrane carbonic anhydrase, MN/CA IX, with potential value as a marker of cell proliferation. Am J Pathol (1998) 1.99
Risk features for surgical-site infections in coronary artery bypass surgery. Infect Control Hosp Epidemiol (1998) 1.63
Comparison of laparoscopic and open Nissen fundoplication 2 years after operation. A prospective randomized trial. Surg Endosc (2000) 1.63
Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment. Am J Med Genet (1984) 1.61
Immunohistochemistry of carbonic anhydrase isozyme IX (MN/CA IX) in human gut reveals polarized expression in the epithelial cells with the highest proliferative capacity. J Histochem Cytochem (1998) 1.57
Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity. Clin Genet (1984) 1.50
Fine mapping of the congenital chloride diarrhea gene by linkage disequilibrium. Am J Hum Genet (1995) 1.46
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
The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am J Med Genet (1984) 1.41
Clinical evaluation of the CDI System 400 blood gas monitor. Perfusion (1994) 1.41
Cohen syndrome: essential features, natural history, and heterogeneity. Am J Med Genet (2001) 1.40
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
Localization of a gene for progressive myoclonus epilepsy to chromosome 21q22. Proc Natl Acad Sci U S A (1991) 1.27
Symptoms and signs of sciatica and their relation to the localization of the lumbar disc herniation. Spine (Phila Pa 1976) (1985) 1.25
A prospective randomized outcome and cost comparison of totally extraperitoneal endoscopic hernioplasty versus Lichtenstein hernia operation among employed patients. Surg Laparosc Endosc (1998) 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
Guanfacine, but not clonidine, improves planning and working memory performance in humans. Neuropsychopharmacology (1999) 1.23
Immunoassay for intact amino-terminal propeptide of human type I procollagen. Clin Chem (1996) 1.22
Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome). Clin Genet (1991) 1.21
Congenital nephrotic syndrome. Nephron (1973) 1.19
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nat Genet (1997) 1.18
Five-year outcome of laparoscopic and Lichtenstein hernioplasties. Surg Endosc (2004) 1.17
Palliative operations for colorectal cancer. Dis Colon Rectum (1990) 1.15
Cost-effective appendectomy. Open or laparoscopic? A prospective randomized study. Surg Endosc (1998) 1.14
A new model of chronic temporal lobe epilepsy induced by electrical stimulation of the amygdala in rat. Epilepsy Res (2000) 1.14
Loss of synaptophysin-like immunoreactivity in the hippocampal formation is an early phenomenon in Alzheimer's disease. Neuroscience (1995) 1.12
Relation between control of diabetes and gingival bleeding. J Periodontol (1985) 1.12
Atrial myxoma in a family. Am J Cardiol (1976) 1.12
Comparison of costs between laparoscopic and open Nissen fundoplication: a prospective randomized study with a 3-month followup. J Am Coll Surg (1999) 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
Main features of the congenital nephrotic syndrome. Acta Paediatr Scand (1967) 1.11
Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis. Clin Genet (1985) 1.10
Psychopathy and the posterior hippocampus. Behav Brain Res (2001) 1.09
A cost and outcome comparison between laparoscopic and Lichtenstein hernia operations in a day-case unit. A randomized prospective study. Surg Endosc (1998) 1.08
Guanfacine and clonidine, alpha 2-agonists, improve paired associates learning, but not delayed matching to sample, in humans. Neuropsychopharmacology (1999) 1.06
Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nat Genet (1994) 1.04
Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families. Clin Genet (1971) 1.02
Fine mapping and haplotype analysis of the locus for congenital nephrotic syndrome on chromosome 19q13.1. Am J Hum Genet (1995) 1.01
Refined mapping of the Cohen syndrome gene by linkage disequilibrium. Eur J Hum Genet (1998) 1.01
Dominant inheritance of tooth malpositions and their association to hypodontia. Clin Genet (1988) 1.00
Increased turnover of collagen in abdominal aortic aneurysms, demonstrated by measuring the concentration of the aminoterminal propeptide of type III procollagen in peripheral and aortal blood samples. J Vasc Surg (1995) 0.99
The desmoid tumor. III. A biochemical and genetic analysis. Am J Clin Pathol (1982) 0.98
Evaluation of genetic counselling: recall of information, post-counselling reproduction, and attitude of the counsellees. Clin Genet (1988) 0.97
Behavioral and pharmacological studies on the validation of a new animal model for attention deficit hyperactivity disorder. Neurobiol Learn Mem (1996) 0.97
Linkage studies in progressive myoclonus epilepsy: Unverricht-Lundborg and Lafora's diseases. Neurology (1992) 0.96
RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. Am J Med Genet (1989) 0.95
Transmembrane carbonic anhydrase, MN/CA IX, is a potential biomarker for biliary tumours. J Hepatol (2001) 0.94
Chronic inflammation and elastin degradation in abdominal aortic aneurysm disease: an immunohistochemical and electron microscopic study. Eur J Vasc Endovasc Surg (1998) 0.93
Familial intra-areolar polythelia with mammary hypoplasia. Scand J Plast Reconstr Surg (1982) 0.93
Attitudes towards prenatal diagnosis and selective abortion among patients with retinitis pigmentosa or choroideremia as well as among their relatives. Clin Genet (1993) 0.93
MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly. Neuropediatrics (1998) 0.92
Psychiatric disorders leading to hospitalization before and after infertility treatments. Hum Reprod (2010) 0.92
Marked amine and amine metabolite changes in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase. J Neurochem (1990) 0.91
Quality assurance in clinical perfusion. Eur J Cardiothorac Surg (1998) 0.91
Activation of 5-HT2A receptors impairs response control of rats in a five-choice serial reaction time task. Neuropharmacology (2000) 0.91
Cohen syndrome: evaluation of its cardiac, endocrine and radiological features. Clin Genet (1999) 0.90
Norrie disease gene is distinct from the monoamine oxidase genes. Am J Hum Genet (1989) 0.90
PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings. AJNR Am J Neuroradiol (1993) 0.89
Ophthalmologic findings in Cohen syndrome. A long-term follow-up. Ophthalmology (2000) 0.88
Total costs of laparoscopic and lichtenstein inguinal hernia repairs: a randomized prospective study. Surg Laparosc Endosc (1997) 0.88
Mast cells and fracture repair. Ann Med Exp Biol Fenn (1967) 0.87
Surgical treatment of recurrent colorectal cancer. Five-year follow-up. Arch Surg (1989) 0.87
Influence of pericardial suction blood retransfusion on memory function and release of protein S100B. Perfusion (2004) 0.87
Dominant and recessive polycystic kidney disease in children: evaluation of clinical features and laboratory data. Pediatr Nephrol (1988) 0.86
Aminoterminal propeptide of type III procollagen in the follow-up of patients with abdominal aortic aneurysms. J Vasc Surg (1997) 0.86
The effect of cry stimulus on the temperature of the lactating breast of primipara. A thermographic study. Experientia (1969) 0.86
Neurological and psychological findings in patients with Cohen syndrome: a study of 18 patients aged 11 months to 57 years. Neuropediatrics (1999) 0.85
Plasma amine oxidase activities in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase. J Neural Transm Gen Sect (1991) 0.85
Homozygous variegate porphyria. A severe skin disease of infancy. Clin Genet (1987) 0.85
Cystic fibrosis mutation delta F508 in Finland: other mutations predominate. Hum Genet (1990) 0.85
Cystic fibrosis in Finland: a molecular and genealogical study. Hum Genet (1989) 0.85
The relative safety of an oxygenator. Perfusion (1997) 0.85
Results of pancreatoduodenectomy for carcinoma of the head of the pancreas. Hepatogastroenterology (1989) 0.85
Clonidine, but not guanfacine, impairs choice reaction time performance in young healthy volunteers. Neuropsychopharmacology (1999) 0.85
Enhancement of intermediate-term memory by an alpha-1 agonist or a partial agonist at the glycine site of the NMDA receptor. Neurobiol Learn Mem (1997) 0.84
Cost effectiveness of preoperative ultrasound in primary parathyroid surgery. Ann Chir Gynaecol (1994) 0.84
[Specific genetic diseases--hereditary nanism in Finland]. Duodecim (1987) 0.83
Twelfth-rib syndrome simulating intra-abdominal disease. Case report. Acta Chir Scand (1988) 0.83
Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical? Am J Med Genet (1986) 0.83
A radiographic method for measurement of leg length inequality. Diagn Imaging Clin Med (1985) 0.83
Arthrography in the diagnosis of ligament injuries and classification of ankle injuries. Radiology (1977) 0.83
Blockade of muscarinic, rather than nicotinic, receptors impairs attention, but does not interact with serotonin depletion. Psychopharmacology (Berl) (2000) 0.82
The mast cell as a component of callus in healing fractures. J Bone Joint Surg Br (1969) 0.82
Granulocytopenia in Cohen syndrome. Br J Haematol (1997) 0.82
Effect of jaundice and its resolution on wound re-epithelization, skin collagen synthesis, and serum collagen propeptide levels in patients with neoplastic pancreaticobiliary obstruction. J Surg Res (2005) 0.82
Cystic fibrosis in a low-incidence population: two major mutations in Finland. Hum Genet (1994) 0.82
Lysinuric protein intolerance, an autosomal recessive disease. A genetic study of 10 Finnish families. Clin Genet (1971) 0.82
Coexistence of parvalbumin and GABA in nonpyramidal neurons of the rat entorhinal cortex. Brain Res (1996) 0.82
Use of heparin-bonded circuits in cardiopulmonary bypass improves clinical outcome. Scand Cardiovasc J (2002) 0.82
Wire-guided excision of non-palpable breast cancer: determinants and correlations between radiologic and histologic margins and residual disease in re-excisions. Breast (2001) 0.81
Maximal local and minimal systemic cytokine response to colorectal surgery: the influence of perioperative filgrastim. Cytokine (2001) 0.81
Cosmetic results after wire-guided biopsy of benign breast lesions. J Am Coll Surg (1998) 0.81
Endoscopy for the diagnosis of acute upper gastrointestinal bleeding. Scand J Gastroenterol (1991) 0.81
The effects of guanfacine, alpha-2 agonist, on the performance of young and aged rats in spatial navigation task. Behav Neural Biol (1991) 0.81