Published in Hum Genet on December 01, 1997
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet (1998) 2.34
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye. Am J Hum Genet (2001) 1.50
Identification of the gene responsible for Best macular dystrophy. Nat Genet (1998) 4.89
Common VKORC1 and GGCX polymorphisms associated with warfarin dose. Pharmacogenomics J (2005) 3.75
Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14. Neurology (1998) 2.10
Warfarin sensitivity related to CYP2C9, CYP3A5, ABCB1 (MDR1) and other factors. Pharmacogenomics J (2004) 1.51
Lamotrigine and toxic epidermal necrolysis. Lancet (1996) 1.48
The mutation spectrum of the bestrophin protein--functional implications. Hum Genet (1999) 1.39
Enhanced accumulation of A2E in individuals homozygous or heterozygous for mutations in BEST1 (VMD2). Exp Eye Res (2007) 1.35
Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. Hum Genet (1999) 1.33
Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis. Nat Genet (1993) 1.30
New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome. Am J Hum Genet (1995) 1.25
Results of trabeculectomy for pseudo-exfoliative glaucoma. A study of 52 cases. Br J Ophthalmol (1974) 1.17
Scanning electron microscopic studies on the development of the iridocorneal angle in human eyes. Invest Ophthalmol (1971) 1.12
Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome. Hum Genet (1989) 1.11
330 trabeculectomies--a follow-up study through 1/2-3 years. Acta Ophthalmol (Copenh) (1977) 1.09
The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. Clin Genet (1992) 1.08
Dominant goniodysgenesis with late congenital glaucoma. A re-examination of Berg's pedigree. Am J Ophthalmol (1972) 1.05
Polymorphisms in NAT2, CYP2D6, CYP2C19 and GSTP1 and their association with prostate cancer. Pharmacogenetics (1999) 1.03
Chromosome-specific panels of tri- and tetranucleotide microsatellite markers for multiplex fluorescent detection and automated genotyping: evaluation of their utility in pathology and forensics. Genome Res (1996) 1.01
Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n). Clin Exp Immunol (1999) 1.00
The Sjögren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. Nat Genet (1994) 0.98
Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity. Hum Genet (1995) 0.97
Linkage mapping of a severe X-linked mental retardation syndrome. Am J Hum Genet (1993) 0.94
Identification of mutations in the CACNL1A3 gene in 13 families of Scandinavian origin having hypokalemic periodic paralysis and evidence of a founder effect in Danish families. Am J Med Genet (1997) 0.93
Prostate cancer associated with CYP17 genotype. Pharmacogenetics (1999) 0.93
Progress in a genome scan for linkage in schizophrenia in a large Swedish kindred. Am J Med Genet (1994) 0.90
Autoimmune polyglandular disease type I. Exclusion map using amplifiable multiallelic markers in a microtiter well format. Eur J Hum Genet (1993) 0.88
Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene. Ophthalmic Genet (1999) 0.87
Familial congenital glaucoma with dominant heredity. Acta Ophthalmol (Copenh) (1968) 0.86
Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. Ophthalmic Genet (2001) 0.85
A missense mutation in the FALDH gene identified in Sjögren-Larsson syndrome patients originating from the northern part of Sweden. Hum Genet (1997) 0.85
Spectrum of mutations and sequence variants in the FALDH gene in patients with Sjögren-Larsson syndrome. Hum Mutat (1998) 0.85
Trabeculectomy combined with cataract extraction. Am J Ophthalmol (1976) 0.84
Congenital glaucoma due to dominant goniodysgenesis. A new concept of the heredity of glaucoma. Am J Hum Genet (1983) 0.84
330 trabeculectomies. A long time study (3-5 1/2 years). Acta Ophthalmol (Copenh) (1980) 0.83
Influence of adenosine triphosphate and ABCB1 (MDR1) genotype on the P-glycoprotein-dependent transfer of saquinavir in the dually perfused human placenta. Hum Exp Toxicol (2008) 0.82
Still no evidence for heterogeneity in Best's vitelliform macular dystrophy. J Med Genet (1996) 0.82
Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridisation. Am J Med Genet (1998) 0.81
Corticosteroid response in dominant congenital glaucoma. Acta Ophthalmol (Copenh) (1978) 0.81
Infantile glaucoma in Down's syndrome (trisomy 21) Am J Ophthalmol (1988) 0.80
Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (Norrbottnian type). Prenat Diagn (1992) 0.79
Goniodysgenesis and hereditary juvenile glaucoma. A clinical study of a Swedish pedigree. Acta Ophthalmol Suppl (1970) 0.79
Lowe's oculocerebrorenal syndrome--variation in lens changes in the carrier state. Acta Ophthalmol (Copenh) (1991) 0.78
New aspects on the heredity of open angle glaucoma. Acta Ophthalmol (Copenh) (1979) 0.78
Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotype. Am J Med Genet (1996) 0.77
Goniodysgenesis and pigmentary glaucoma. Acta Ophthalmol (Copenh) (1969) 0.77
First prenatal diagnosis by mutation analysis in a family with Sjögren-Larsson syndrome. Prenat Diagn (1997) 0.76
Refined genetic localization of the Best disease gene in 11q13 and physical mapping of linked markers on radiation hybrids. Hum Genet (1997) 0.76
Venous thrombosis: factor V G1691A genotyping related to APC resistance as measured by 2 methods. Eur J Haematol (1997) 0.76
Further evidence of genetic homogeneity in Sjögren-Larsson syndrome. Acta Derm Venereol (1999) 0.75
Deletion screening of Sri Lankan Duchenne muscular dystrophy patients using the polymerase chain reaction. Ann Trop Paediatr (1993) 0.75
[Glaucoma simplex 1974]. Lakartidningen (1974) 0.75
[Angelman syndrome. A developmental disorder with important significance for understanding genetic imprinting]. Lakartidningen (1996) 0.75
Varieties of congenital glaucoma. Acta Ophthalmol (Copenh) (1968) 0.75
Multiplex PCR excludes Duchenne muscular dystrophy in a twin pregnancy. Clin Genet (1991) 0.75
Goniodysgenesis in exfoliation glaucoma. Adv Ophthalmol (1978) 0.75
Genetic and linkage analysis of familial congenital hypothyroidism: exclusion of linkage to the TSH receptor gene. Hum Genet (1997) 0.75
Tranexamic acid (AMCA) and late hyphaema. A double blind study in cataract surgery. Acta Ophthalmol (Copenh) (1976) 0.75
The epipapillary membrane and the glaucomatous optic disc. Acta Ophthalmol (Copenh) (1976) 0.75
Linkage analysis excludes familial congenital hypothyroidism from chromosome 21. Genet Couns (1998) 0.75
Goniodysgenesis in elderly glaucoma and non-glaucoma patients. A masked slit-lamp and gonioscopy study. Acta Ophthalmol (Copenh) (1986) 0.75
Hyperkalemic periodic paralysis caused by recurring mutation in the adult muscle sodium channel alpha-subunit gene. Genet Couns (1996) 0.75
Detailed genetic and physical mapping in the Sjögren-Larsson syndrome gene region in 17p11.2. Hereditas (1998) 0.75
Retinoblastoma in Sweden. A study of 45 children with retinoblastoma with special regard to the therapeutical results. Acta Ophthalmol (Copenh) (1973) 0.75
[Retinoblastoma]. Lakartidningen (1971) 0.75
The initial stage of the exfoliation syndrome. Acta Ophthalmol Suppl (1985) 0.75
Genetic mapping using fluorescent quantification of allele frequencies in pooled DNA loaded by solid support. Clin Genet (1997) 0.75
[A new mutation causes achondrodysplasia. A simple DNA analysis confirms the diagnosis]. Lakartidningen (1997) 0.75
[From rune stones to genes. The cause of Sjögren-Larsson syndrome is encircled]. Lakartidningen (1995) 0.75
Gonioscopic findings of importance for classification of glaucoma [proceedings]. Acta Ophthalmol Suppl (1975) 0.75
Achondroplasia in Sweden caused by the G1138A mutation in FGFR3. Acta Paediatr (1996) 0.75
[Molecular genetic diagnostics--experiences from Uppsala]. Lakartidningen (1988) 0.75
Treatment of retinoblastoma. Acta Ophthalmol Suppl (1974) 0.75