Published in Hum Genet on February 01, 1990
Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria. Proc Natl Acad Sci U S A (1991) 1.02
A mapping function for man. Hum Hered (1977) 7.50
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature (1992) 4.44
A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature (1990) 2.20
Alternative dideoxy sequencing of double-stranded DNA by cyclic reactions using Taq polymerase. DNA Cell Biol (1991) 2.14
Meiotic drive at the myotonic dystrophy locus? Nat Genet (1994) 2.08
Guidelines for reporting clinical features in cases with MECP2 mutations. Brain Dev (2001) 1.99
A family study of genetic and environmental factors determining polymorphic hydroxylation of debrisoquin. Clin Pharmacol Ther (1985) 1.87
The 11q;22q translocation: a European collaborative analysis of 43 cases. Hum Genet (1980) 1.82
Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet (1994) 1.79
Documentation of Epstein-Barr virus infection in immunodeficient patients with life-threatening lymphoproliferative diseases by Epstein-Barr virus complementary RNA/DNA and viral DNA/DNA hybridization. Cancer Res (1981) 1.72
Presumptive x-autosome translocation in a cow: preferential inactivation of the normal x chromosome. Nature (1968) 1.65
Segregation analysis of balanced pericentric inversions in pedigree data. Clin Genet (1986) 1.65
Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent. Hum Mol Genet (1993) 1.55
Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet (1994) 1.53
Maternal smoking during pregnancy and the risk of childhood cancer. Lancet (1986) 1.51
Data and theory for a revised chiasma map of man. Hum Genet (1982) 1.49
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet (1994) 1.46
The use of fluorescence techniques for the recognition of mammalian chromosomes and chromosome regions. Int Rev Exp Pathol (1972) 1.45
Distinction between extra G-like chromosomes by quinacrine mustard fluorescence analysis. Exp Cell Res (1970) 1.44
Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques. J Med Genet (1972) 1.42
The 11q;22q translocation: a collaborative study of 20 new cases and analysis of 110 families. Hum Genet (1983) 1.40
A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus. Am J Hum Genet (1990) 1.39
Mutation screening in Rett syndrome patients. J Med Genet (2000) 1.38
Identification of the Philadelphia chromosome as a number 22 by quinacrine mustard fluorescence analysis. Exp Cell Res (1970) 1.37
DNA linkage analysis of X-linked retinoschisis. Hum Genet (1988) 1.31
Two genes encoding immune-regulatory molecules (LAG3 and IL7R) confer susceptibility to multiple sclerosis. Genes Immun (2005) 1.28
Evidence for integrated EBV genomes in Raji cellular DNA. Nucleic Acids Res (1984) 1.27
A chiasma map of man. Hum Hered (1977) 1.22
Epstein-Barr virus in nasopharyngeal and salivary gland carcinomas of Greenland Eskimoes. Br J Cancer (1982) 1.18
Translocations causing non-fluorescent Y chromosomes in human XO/XY mosaics. Hereditas (1971) 1.16
NURR1 mutations in cases of schizophrenia and manic-depressive disorder. Am J Med Genet (2000) 1.16
Recombination events that locate myotonic dystrophy distal to APOC2 on 19q. Genomics (1989) 1.15
Ancestral differences in the distribution of the delta 2642 glutamic acid polymorphism is associated with varying CAG repeat lengths on normal chromosomes: insights into the genetic evolution of Huntington disease. Hum Mol Genet (1995) 1.13
DNA polymorphisms within the porphobilinogen deaminase gene in two Swedish families with acute intermittent porphyria. Hum Genet (1988) 1.13
Does 77C-->G in PTPRC modify autoimmune disorders linked to the major histocompatibility locus? Nat Genet (2001) 1.11
Examination of X chromosome markers in Rett syndrome: exclusion mapping with a novel variation on multilocus linkage analysis. Am J Hum Genet (1992) 1.10
Letter: chromosome aberrations in workers exposed to vinyl chloride. Lancet (1975) 1.09
Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker. N Engl J Med (1993) 1.08
Studies on spontaneous abortions. Fluorescence analysis of abnormal karyotypes. Hereditas (1972) 1.07
An unbalanced 4q-21q translocation identified by the R but not by the G and Q chromosome banding techniques. Ann Genet (1973) 1.07
Identification of different Robertsonian translocations in man by quinacrine mustard fluorescence analysis. Hereditas (1971) 1.06
Trisomy 8 in acute myeloblastic leukemia and sideroachrestic anemia. Blood (1974) 1.06
Identification of the abnormal B group chromosome in the "cri du chat" syndrome by QM-fluorescence. Exp Cell Res (1970) 1.05
Epstein-Barr virus markers in a series of Burkitt's lymphomas from the West Nile District, Uganda. Eur J Cancer Clin Oncol (1983) 1.04
Identification of chromosome bivalents in human male meiosis by quinacrine mustard fluorescence analysis. Hereditas (1972) 1.04
Trisomy 21 in man due to maternal non-disjunction during the first meiotic division. Hereditas (1972) 1.04
Huntington disease phenocopy is a familial prion disease. Am J Hum Genet (2001) 1.04
The trophoblastic epithelial barrier is not infected in full-term placentae of human immunodeficiency virus-seropositive mothers undergoing antiretroviral therapy. J Virol (1999) 1.02
Identification of the most common mutation within the porphobilinogen deaminase gene in Swedish patients with acute intermittent porphyria. Proc Natl Acad Sci U S A (1991) 1.02
A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia. Mutations in brief no. 122. Online. Hum Mutat (1998) 1.01
Documentation of Epstein-Barr virus infection in immunodeficient patients with life-threatening lymphoproliferative diseases by clinical, virological, and immunopathological studies. Cancer Res (1981) 1.01
Maternal smoking during pregnancy and risk of childhood cancer. Lancet (1986) 1.00
Structural abnormalities of chromosome 18. II. Two familial translocations, B-18 and 16-18, ascertained through unbalanced forms. Ann Genet (1971) 1.00
Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease. J Med Genet (2001) 1.00
Distribution of mitomycin C induced breaks on human chromosomes. Hereditas (1973) 0.99
Epstein-Barr-virus-carrying lymphoma in a patient with ataxia-telangiectasia. Br Med J (Clin Res Ed) (1981) 0.98
Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq. J Med Genet (1998) 0.97
B cell phenotype-dependent expression of the Epstein-Barr virus nuclear antigens EBNA-2 to EBNA-6: studies with somatic cell hybrids. J Gen Virol (1991) 0.97
Chromosome aberrations and sister-chromatid exchange in workers in chemical laboratories and a rotoprinting factory and in children of women laboratory workers. Lancet (1977) 0.97
Cytogenetical and clinical investigations in four subjects with anomalies of sexual development. Science (1967) 0.96
Cytogenetic aspects of human male meiosis. Adv Hum Genet (1973) 0.95
Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I. Am J Hum Genet (1992) 0.94
Chromosome breakage in humans exposed to methyl mercury through fish consumption. Preliminary communication. Arch Environ Health (1970) 0.93
HL-A antigens and heteromorphic fluorescence characters of chromosomes in prenatal paternity investigation. Nature (1972) 0.93
Extra minute chromosome in somatic and germ-line cells of the same person. Lancet (1966) 0.93
Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria. Hum Genet (1991) 0.93
Low frequency of RET mutations in Hirschsprung disease in Sweden. Clin Genet (1998) 0.93
The occurrence of abnormal insulin and growth hormone (HGH) responses to sustained hyperglycaemia in a disease with sex chromosome aberrations (Turner's syndrome). Including a histological study of the pancreas in two such patients. Acta Endocrinol (Copenh) (1967) 0.92
A Huntington disease-like neurodegenerative disorder maps to chromosome 20p. Am J Hum Genet (1998) 0.92
An extra C chromosome and various metabolic abnormalities in the bone marrow from a patient with refractory sideroblastic anaemia. Scand J Haematol (1971) 0.91
Incidence of Down's syndrome in Sweden during the years 1968-1977. Hum Genet Suppl (1981) 0.91
Screening for mutations in candidate genes for hypospadias. Urol Res (1999) 0.91
Sex-reversed XY females with campomelic dysplasia are H-Y negative. Hum Genet (1981) 0.91
X chromosome linkage studies in familial Rett syndrome. Hum Genet (1993) 0.90
Dopamine D1 receptor number--a sensitive PET marker for early brain degeneration in Huntington's disease. Eur Arch Psychiatry Clin Neurosci (1994) 0.90
Presumptive direct insertion within chromosome 2 in man. Ann Hum Genet (1973) 0.89
Alcohol dehydrogenase alleles in Parkinson's disease. Mov Disord (2000) 0.89
Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis. Hum Genet (1995) 0.89
Dinucleotide repeat polymorphism in the promoter region of the human von Willebrand factor gene (vWF gene). Hum Mol Genet (1992) 0.88
Late side effects of chemotherapy in ovarian carcinoma: a cytogenetic, hematologic, and statistical study. Cancer (1982) 0.87
The nature of structural X chromosome aberrations in Turner's syndrome as revealed by quinacrine mustard fluorescence analysis. Hereditas (1970) 0.87
Fluorescent staining of heteropycnotic chromosome regions in human interphase nuclei. Exp Cell Res (1970) 0.87
European collaborative study on prenatal diagnosis: mosaicism, pseudomosaicism and single abnormal cells in amniotic fluid cell cultures. Prenat Diagn (1984) 0.86
Rapid identification of human chromosomes by TV-techniques. Exp Cell Res (1970) 0.86
Specific instability of the paracentric region of chromosome number 9 in a normal woman and her mongoloid son. Ann Genet (1971) 0.86
Genetic regulation of the kinetics of glucose-induced insulin release in man. Studies in families with diabetic and non-diabetic probands. Clin Genet (1985) 0.86
A new variant translocation (19q plus, 22q minus) in chronic myelocytic leukemia. Exp Cell Res (1974) 0.86
Bromodeoxyuridine-induced sister chromatid exchanges in human lymphocytes. Hereditas (1976) 0.86
Rett syndrome: exclusion mapping following the hypothesis of germinal mosaicism for new X-linked mutations. Hum Genet (1991) 0.86
High suicidal ideation in persons testing for Huntington's disease. Acta Neurol Scand (2000) 0.86
Unusual XX/XY chimerism. Ann Hum Genet (1979) 0.85
Genetic linkage of Welander distal myopathy to chromosome 2p13. Ann Neurol (1999) 0.85
DNA repair and frequency of x-ray and u.v.-light induced chromosome aberrations in leukocytes from patients with Down's syndrome. Ann Hum Genet (1976) 0.85
Chromatid interchange resulting in duplication of the short arm of chromosome number 7 in man. Ann Genet (1971) 0.85
Simultaneous analysis of expression of the three myotonic dystrophy locus genes in adult skeletal muscle samples: the CTG expansion correlates inversely with DMPK and 59 expression levels, but not DMAHP levels. Hum Mol Genet (1999) 0.85