Published in Nucleic Acids Res on July 11, 1986
Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency). Nucleic Acids Res (1987) 1.62
Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y. Hum Mol Genet (2006) 1.36
XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region. Proc Natl Acad Sci U S A (1992) 1.21
Mapping the testis determinants by an analysis of Y-specific sequences in males with apparent XX and XO karyotypes and females with XY karyotypes. Nucleic Acids Res (1987) 1.18
Dynamic nature of the proximal AZFc region of the human Y chromosome: multiple independent deletion and duplication events revealed by microsatellite analysis. Hum Mutat (2008) 1.10
XX true hermaphroditism in southern African blacks: an enigma of primary sexual differentiation. Am J Hum Genet (1988) 1.05
Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females. Proc Natl Acad Sci U S A (1989) 1.02
Evidence for distinguishable transcripts of the putative testis determining gene (ZFY) and mapping of homologous cDNA sequences to chromosomes X,Y and 9. Nucleic Acids Res (1989) 1.01
A human Y-chromosomal DNA sequence expressed in testicular tissue. Nucleic Acids Res (1987) 0.96
MSY Breakpoint Mapper, a database of sequence-tagged sites useful in defining naturally occurring deletions in the human Y chromosome. Nucleic Acids Res (2007) 0.93
Isolation of a sequence which maps close to the human sex determining gene. Nucleic Acids Res (1987) 0.90
Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination. Proc Natl Acad Sci U S A (1996) 0.87
Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms. Genomics (2013) 0.86
Evolution of homologous sequences on the human X and Y chromosomes, outside of the meiotic pairing segment. Nucleic Acids Res (1987) 0.83
Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation. Eur J Pediatr (1993) 0.81
Steroid sulfatase gene in XX males. Am J Hum Genet (1990) 0.78
Analysis of sex chromosome abnormalities using X and Y chromosome DNA tiling path arrays. J Med Genet (2007) 0.78
Use of probes for ZFY, SRY, and the Y pseudoautosomal boundary in XX males, XX true hermaphrodites, and an XY female. J Med Genet (1991) 0.78
An extended long-range restriction map of the human sex-determining region on Yp, including ZFY, finds marked homology on Xp and no detectable Y sequences in an XX male. Am J Hum Genet (1989) 0.78
An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family. J Med Genet (1998) 0.77
Primary infertility in a phenotypic male with 46XX chromosomal constitution. Postgrad Med J (1993) 0.76
Is zinc-finger Y the sex-determining gene? Am J Hum Genet (1989) 0.75
Y chromosome specific probes identify breakpoint in a 45,X/46,X,del(Y)(pter----q11.1:) karyotype of an infertile male. J Med Genet (1989) 0.75
An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction. Am J Hum Genet (1987) 0.75
A gradient of sex linkage in the pseudoautosomal region of the human sex chromosomes. Nature (1986) 3.09
Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet (1985) 3.08
A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03
X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet (1966) 2.68
Occurrence of a transposition from the X-chromosome long arm to the Y-chromosome short arm during human evolution. Nature (1984) 2.21
A rapid screening test for antenatal sex determination. Lancet (1984) 1.92
Human XX males with Y single-copy DNA fragments. Nature (1984) 1.75
Genetic evidence of X-Y interchange in a human XX male. Nature (1984) 1.29
Moderately repeated DNA sequences specific for the short arm of the human Y chromosome are present in XX males and reduced in copy number in an XY female. Nucleic Acids Res (1986) 1.26
Translocation(X;Y)(p22.33;p11.2) in XX males: etiology of male phenotype. Hum Genet (1982) 1.19
The flow of oxygen through the pulmonary epithelium. J Physiol (1920) 9.27
Multicolor spectral karyotyping of human chromosomes. Science (1996) 7.65
Human DNA repair genes. Science (2001) 6.11
Value of assessment of pretest probability of deep-vein thrombosis in clinical management. Lancet (1998) 6.04
Microsatellite evolution--evidence for directionality and variation in rate between species. Nat Genet (1995) 4.77
Clinical features and natural history of von Hippel-Lindau disease. Q J Med (1990) 4.71
Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion. J Med Genet (1971) 4.70
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations. Hum Mol Genet (2005) 4.12
Von Hippel-Lindau disease: a genetic study. J Med Genet (1991) 3.61
Tumour necrosis factor-alpha and interferon-gamma production measured at the single cell level in normal and inflamed human intestine. Clin Exp Immunol (1990) 3.54
Management of dizziness in primary care. J Am Board Fam Pract (1994) 3.33
Immunologic investigations of mucoid strains of Pseudomonas aeruginosa: comparison of susceptibility to opsonic antibody in mucoid and nonmucoid strains. J Infect Dis (1980) 3.29
Translocation of c-ab1 oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia. Nature (1984) 3.24
Cloned DNA probes regionally mapped to human chromosome 21 and their use in determining the origin of nondisjunction. Nucleic Acids Res (1985) 3.09
Localization of human immunoglobulin kappa light chain variable region genes to the short arm of chromosome 2 by in situ hybridization. Proc Natl Acad Sci U S A (1982) 3.07
Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes. Genes Chromosomes Cancer (1992) 3.03
Multicolour spectral karyotyping of mouse chromosomes. Nat Genet (1996) 2.90
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat (1996) 2.80
X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet (1966) 2.68
Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma. Hum Mol Genet (1994) 2.65
Extended lamivudine retreatment for chronic hepatitis B: maintenance of viral suppression after discontinuation of therapy. Hepatology (1999) 2.64
Pharmacist-led medication review in patients over 65: a randomized, controlled trial in primary care. Age Ageing (2001) 2.60
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet (1994) 2.52
Ultrasonographic screening before hospital discharge for deep venous thrombosis after arthroplasty: the post-arthroplasty screening study. A randomized, controlled trial. Ann Intern Med (1997) 2.28
Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: evidence for a VHL-independent pathway in clear cell renal tumourigenesis. Genes Chromosomes Cancer (1998) 2.27
Dopamine production in the caudate putamen restores feeding in dopamine-deficient mice. Neuron (2001) 2.24
A selective difference between human Y-chromosomal DNA haplotypes. Curr Biol (1999) 2.14
Transfer of diabetes in mice prevented by blockade of adhesion-promoting receptor on macrophages. Nature (1990) 2.10
Rheumatoid arthritis, corticosteroid therapy and hip fracture. Ann Rheum Dis (1995) 2.10
A novel gene (PLU-1) containing highly conserved putative DNA/chromatin binding motifs is specifically up-regulated in breast cancer. J Biol Chem (1999) 2.09
Size and physical map of the chromosome of Haemophilus influenzae. J Bacteriol (1989) 2.07
Rapid determination of sequences flanking microsatellites. Nucleic Acids Res (1991) 2.04
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics (1988) 2.04
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. Hum Mol Genet (2003) 2.04
Chromosome 22q11 microdeletions in tetralogy of Fallot. Arch Dis Child (1996) 2.00
Special modifications of the fluorescent screening method for glucose-6-phosphate dehydrogenase deficiency. Blood (1968) 1.99
Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative european study on 52 965 amniocenteses. Prenat Diagn (1984) 1.97
Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome. Nature (1983) 1.94
Human centromeric DNAs. Hum Genet (1997) 1.94
Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes. Nat Genet (1993) 1.92
Observation of covalent intermediates in an enzyme mechanism at atomic resolution. Science (2001) 1.92
The relation of free radical production to hyperoxia. Annu Rev Physiol (1986) 1.92
Avoidance of anencephalic and spina bifida births by maternal serum-alphafetoprotein screening. Lancet (1978) 1.90
The reduction of anencephalic and spina bifida births by maternal serum alphafetoprotein screening. Br Med Bull (1983) 1.89
Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. J Med Genet (1992) 1.85
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain (1999) 1.84
Guillain-Barré syndrome and Hodgkin's disease: three cases with immunological studies. Ann Neurol (1977) 1.84
The Hound of the Baskervilles effect: natural experiment on the influence of psychological stress on timing of death. BMJ (2001) 1.83
A comparative study of karyotypes of muntjacs by chromosome painting. Chromosoma (1995) 1.81
Energy-linked pyridine nucleotide reduction: inhibitory effects of hyperbaric oxygen in vitro and in vivo. Nature (1965) 1.80
A complete comparative chromosome map for the dog, red fox, and human and its integration with canine genetic maps. Genomics (1999) 1.79
Reciprocal chromosome painting among human, aardvark, and elephant (superorder Afrotheria) reveals the likely eutherian ancestral karyotype. Proc Natl Acad Sci U S A (2003) 1.79
Suppressor T cells in experimental autoimmune haemolytic anaemia. Nature (1978) 1.79
Kifunensine, a potent inhibitor of the glycoprotein processing mannosidase I. J Biol Chem (1990) 1.72
A G-band study of chromosomes in liveborn infants. Ann Hum Genet (1980) 1.72
Gender verification in the Olympics. JAMA (2000) 1.72
Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nat Genet (1994) 1.71
Combined use of clinical assessment and d-dimer to improve the management of patients presenting to the emergency department with suspected deep vein thrombosis (the EDITED Study). J Thromb Haemost (2003) 1.69
High-resolution analysis of human peripheral lymphocyte chromosomes by flow cytometry. Proc Natl Acad Sci U S A (1981) 1.65
Alzheimer's disease with prominent visual symptoms. Clinical and metabolic evaluation. Ophthalmology (1989) 1.63
Localisation of the human ABO: Np-1: AK-1 linkage group by regional assignment of AK-1 to 9q34. Hum Genet (1976) 1.63
Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency). Nucleic Acids Res (1987) 1.62
Assignment of the gene for dyskeratosis congenita to Xq28. Hum Genet (1986) 1.62
CA repeat polymorphism at the ASS locus. Nucleic Acids Res (1990) 1.59
Genetic map of the opp (Oligopeptide permease) locus of Salmonella typhimurium. J Bacteriol (1983) 1.58
A novel mutation in the P2Y12 receptor and a function-reducing polymorphism in protease-activated receptor 1 in a patient with chronic bleeding. J Thromb Haemost (2014) 1.58
Parasitic worms and inflammatory diseases. Parasite Immunol (2006) 1.58
Letter: Prospective data on risk of Down syndrome in relation to maternal age. Lancet (1976) 1.57
Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number. Hum Mol Genet (1993) 1.56
Chromosomal localization of a single copy gene by in situ hybridization--human beta globin genes on the short arm of chromosome 11. Ann Hum Genet (1981) 1.56
The evolution of emergent computation. Proc Natl Acad Sci U S A (1995) 1.55
Biochemical assessment of protein-calorie malnutrition. Lancet (1969) 1.55
Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain. Mamm Genome (2000) 1.54
Comparative genomics: tracking chromosome evolution in the family ursidae using reciprocal chromosome painting. Cytogenet Cell Genet (1998) 1.54
Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation. Blood (2000) 1.54
Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors. Am J Hum Genet (1997) 1.54
Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF). Hum Reprod (2010) 1.54
Assignment by deletion of human red cell acid phosphatase gene locus to the short arm of chromosome 2. Nat New Biol (1973) 1.49
Meiotic analysis of a pericentric inversion, inv(7) (p22q32), in the father of a child with a duplication-deletion of chromosome 7. Cytogenet Cell Genet (1978) 1.48
Disruption of the neuronal PAS3 gene in a family affected with schizophrenia. J Med Genet (2003) 1.46
Congenital cutis laxa with retardation of growth and development. J Med Genet (1987) 1.45
Prenatal assessment of anterior abdominal wall defects and their prognosis. Prenat Diagn (1985) 1.45
Pulmonary pathophysiology in cystic fibrosis. Am Rev Respir Dis (1966) 1.45
Medical Research Council committee draws up guidelines for research into recombinant DNA. Can Med Assoc J (1977) 1.44
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci U S A (1989) 1.43
Characterization of pancreatic islet cell infiltrates in NOD mice: effect of cell transfer and transgene expression. Eur J Immunol (1991) 1.41
Autoreactive T-cell lines specific for mouse thyroglobulin. Immunology (1985) 1.41
Determination of the DNA content of human chromosomes by flow cytometry. Cytogenet Cell Genet (1986) 1.40