Published in Arctic Med Res on October 01, 1987
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Low glutathione reductase and peroxidase activity in age-related macular degeneration. Br J Ophthalmol (1994) 0.96
Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet (1998) 4.01
CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet (2001) 2.51
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet (1996) 2.03
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet (1996) 1.90
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics (1997) 1.70
Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. Hum Genet (1995) 1.63
Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum Mol Genet (1994) 1.62
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa. Hum Mol Genet (1999) 1.53
Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. Acta Ophthalmol Scand (1996) 1.50
A common ancestral origin of the frequent and widespread 2299delG USH2A mutation. Am J Hum Genet (2001) 1.49
Genetic heterogeneity among blue-cone monochromats. Am J Hum Genet (1993) 1.47
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Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet (1994) 1.45
Identification of novel USH2A mutations: implications for the structure of USH2A protein. Eur J Hum Genet (2000) 1.45
Intrafamilial variation of the phenotype in Bardet-Biedl syndrome. Br J Ophthalmol (1997) 1.43
The mutation spectrum of the bestrophin protein--functional implications. Hum Genet (1999) 1.39
Carrier transport uphill. I. General. J Theor Biol (1963) 1.39
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. Eur J Hum Genet (1999) 1.32
Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet (2006) 1.24
Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. Hum Genet (2001) 1.22
Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity. Hum Mutat (1999) 1.22
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40. Eur J Hum Genet (2001) 1.17
Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families. Hum Mutat (2000) 1.17
Prevalence of retinitis pigmentosa and allied disorders in Denmark. I Main results. Acta Ophthalmol (Copenh) (1992) 1.17
Autosomal dominant congenital cataract. Morphology and genetic mapping. Acta Ophthalmol (Copenh) (1989) 1.14
A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect. Hum Genet (2001) 1.12
Choroideremia: further evidence for assignment of the locus to Xq13-Xq21. Hum Genet (1986) 1.11
Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy. J Med Genet (2010) 1.11
Aberrant E-cadherin expression associated with loss of differentiation and advanced stage in human pancreatic cancer. Anticancer Res (1999) 1.10
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet (2005) 1.10
Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin. Clin Genet (1988) 1.06
Visual impairment in Nordic children. I. Nordic registers and prevalence data. Acta Ophthalmol (Copenh) (1992) 1.05
Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation. Am J Med Genet (2000) 1.05
Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia. Hum Genet (1988) 1.04
Choroideremia in interstitial deletion of the X chromosome. Ophthalmic Paediatr Genet (1986) 1.02
Mitochondrial DNA variant 11719G is a marker for the mtDNA haplogroup cluster HV. Hum Biol (2000) 1.01
A ninth locus (RP18) for autosomal dominant retinitis pigmentosa maps in the pericentromeric region of chromosome 1. Hum Mol Genet (1996) 0.99
Visual impairment in Nordic children. III. Diagnoses. Acta Ophthalmol (Copenh) (1992) 0.99
An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. Eur J Hum Genet (2001) 0.98
Mitochondrial DNA haplogroup distribution within Leber hereditary optic neuropathy pedigrees. J Med Genet (2004) 0.96
Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity. Clin Genet (1992) 0.95
Aland eye disease: linkage data. Genomics (1991) 0.95
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet (1994) 0.95
Identification of mutations in Danish choroideremia families. Hum Mutat (1993) 0.95
A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands. Br J Ophthalmol (2008) 0.94
Visual impairment in Nordic children. IV. Sex distribution. Acta Ophthalmol (Copenh) (1992) 0.94
The effect of acetazolamide on passive and active transport of fluorescein across the blood-retina barrier in retinitis pigmentosa complicated by macular oedema. Graefes Arch Clin Exp Ophthalmol (1998) 0.94
Visual impairment in Danish children 1985. Acta Ophthalmol (Copenh) (1987) 0.93
Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene. Ann Neurol (2001) 0.92
Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP). Hum Mol Genet (1996) 0.92
Retinopathy of prematurity. Where to set screening limits? Recommendations based on two Danish surveys. Acta Paediatr Scand (1990) 0.92
A new mechanism in blue cone monochromatism. Hum Genet (1996) 0.92
Differential effect of FBN1 mutations on in vitro proteolysis of recombinant fibrillin-1 fragments. Hum Genet (2000) 0.91
Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. Am J Med Genet A (2005) 0.89
Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming. Biochem Biophys Res Commun (1991) 0.88
Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation. Eye (Lond) (1995) 0.87
Refined genetic mapping of autosomal dominant retinitis pigmentosa locus RP18 reduces the critical region to 2 cM between D1S442 and D1S2858 on chromosome 1q. Hum Genet (1998) 0.86
Prenatal diagnosis of choroideremia. Acta Ophthalmol Scand Suppl (1996) 0.85
Congenital ectopia lentis. A Danish national survey. Acta Ophthalmol Scand (1998) 0.85
Prediction of major coronary events by coronary risk profile and silent myocardial ischaemia: prospective follow-up study of primary prevention in 72 diabetic patients. Diabetes Metab (2001) 0.84
Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation. Acta Neurol Scand (1995) 0.84
An unusual retinal vascular morphology in connection with a novel AIPL1 mutation in Leber's congenital amaurosis. Br J Ophthalmol (2003) 0.84
Familial thyroid ectopy and hemiagenesis. Arch Dis Child (1980) 0.84
A population survey of retinitis pigmentosa and allied disorders in Denmark. Completeness of registration and quality of data. Acta Ophthalmol (Copenh) (1992) 0.83
Sarcosinaemia in a patient with Usher syndrome. J Inherit Metab Dis (1989) 0.83
Identification of a novel locus for a USH3 like syndrome combined with congenital cataract. Clin Genet (2010) 0.81
Caregiver physical and mental health predicts reactions to caregiving. Aging Ment Health (2005) 0.81
Refinement of the dominant optic atrophy locus (OPA1) to a 1.4-cM interval on chromosome 3q28-3q29, within a 3-Mb YAC contig. Hum Genet (1997) 0.81
Evaluation of waste anesthetic gases, monitoring strategies, and correlations between nitrous oxide levels and health symptoms. Am Ind Hyg Assoc J (1994) 0.81
Expression patterns of the novel catenin p120cas in gastrointestinal cancers. Anticancer Res (2000) 0.81
Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3. Hum Mol Genet (1994) 0.80
[Taxol (paclitaxel) as second-line therapy in breast and ovarian cancer]. Harefuah (1998) 0.80
Reappraisal of a short-wavelength-sensitive (S-cone) recording technique in routine clinical electroretinography. Doc Ophthalmol (1997) 0.80
Birdshot retinochoroidopathy in monozygotic twins. Acta Ophthalmol (Copenh) (1992) 0.79
Central serous retinopathy and presenile disciform exudative macular degeneration. Is there an aetiological relationship between these two exudative conditions of the macula? Acta Ophthalmol (Copenh) (1977) 0.79
[Refsum's disease. Hereditary atactic polyneuritis]. Ugeskr Laeger (1989) 0.79
Laboratory measurements of the transport of radon gas through concrete samples. Health Phys (1995) 0.78
Retinitis pigmentosa and allied disorders in Denmark. IV. Ophthalmic features in systemic and non-systemic cases. Acta Ophthalmol (Copenh) (1993) 0.78
Prevalence of mitral valve prolapse in chronic lymphocytic thyroiditis and nongoitrous hypothyroidism. Cardiology (1988) 0.78
Clinical pathology and retinal vascular structure in the Bardet-Biedl syndrome. Br J Ophthalmol (1995) 0.78
Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa. Ophthalmic Genet (1996) 0.78
Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II. Genomics (1994) 0.77
Inhibition of insulin release and stimulation of growth hormone release by hypocalcemia in a boy. Horm Metab Res (1970) 0.77
Prevalence and causes of blindness in Greenland. Arctic Med Res (1987) 0.77
The segregation of glutaryl-CoA dehydrogenase deficiency and Refsum syndrome in a family. J Inherit Metab Dis (1994) 0.77
Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a family. Mol Vis (2011) 0.76
Visual impairment in Nordic children. V. X-linked juvenile retinoschisis. Acta Ophthalmol (Copenh) (1993) 0.76
[Blindness due to retrolental fibroplasia in Denmark 1948-1985. Updating of compulsory notification of visual handicaps in premature infants]. Ugeskr Laeger (1987) 0.76
Agranulocytosis and clozapine. BMJ (1994) 0.75
Surgical technique of meniscal replacement. Arthroscopy (1993) 0.75
Proceedings: Influence of glucagon on plasma levels of glucose, insulin, growth hormone and cortisol. Isr J Med Sci (1975) 0.75
Dynamics of insulinemia in patients with thyroid disorders. Isr J Med Sci (1972) 0.75
May-Hegglin anomaly. Isr J Med Sci (1971) 0.75
Rapid quality control for testing the radiochemical purity of 99Tc(m)-tetrofosmin. Nucl Med Commun (2001) 0.75
[Treatment of Cushing's disease with op' DDD]. Harefuah (1975) 0.75
The effect of glucagon on the 11-hydroxycorticosteroid secretion by the adrenal cortex. Steroids Lipids Res (1974) 0.75
Typical Turner's syndrome with 45 XO karyotype and normal menstruation. Cytogenetic and histological findings. Helv Paediatr Acta (1975) 0.75
[Megaloblastic anemia due to pyrimethamine]. Harefuah (1971) 0.75
Effect of glucagon on serum LH. Horm Metab Res (1975) 0.75
Toxic encephalopathy and noise-induced hearing loss. Noise Health (2007) 0.75