Published in Am J Hum Genet on September 01, 1992
Isodicentric Y chromosomes and sex disorders as byproducts of homologous recombination that maintains palindromes. Cell (2009) 2.52
Multipoint linkage map of the human pseudoautosomal region, based on single-sperm typing: do double crossovers occur during male meiosis? Am J Hum Genet (1994) 1.78
The Human Pseudoautosomal Region (PAR): Origin, Function and Future. Curr Genomics (2007) 1.26
Evaluation of the azoospermic male. Asian J Androl (2011) 1.04
Expansion of the pseudo-autosomal region and ongoing recombination suppression in the Silene latifolia sex chromosomes. Genetics (2013) 1.01
Genetics and evolution of hybrid male sterility in house mice. Genetics (2012) 1.00
Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions. J Clin Endocrinol Metab (2011) 1.00
High-resolution sex-specific linkage maps of the mouse reveal polarized distribution of crossovers in male germline. Genetics (2014) 0.97
The effects of age and abnormal sperm count on the nondisjunction of spermatozoa. J Assist Reprod Genet (2000) 0.91
Recombination in the human Pseudoautosomal region PAR1. PLoS Genet (2014) 0.89
A pseudoautosomal random amplified polymorphic DNA marker for the sex chromosomes of Silene dioica. Genetics (1998) 0.89
A pronounced evolutionary shift of the pseudoautosomal region boundary in house mice. Mamm Genome (2012) 0.87
The program of sex chromosome pairing in meiosis is highly conserved across marsupial species: implications for sex chromosome evolution. Genetics (2005) 0.86
Intrachromosomal homologous recombination between inverted amplicons on opposing Y-chromosome arms. Genomics (2013) 0.86
Comparative analysis of a plant pseudoautosomal region (PAR) in Silene latifolia with the corresponding S. vulgaris autosome. BMC Genomics (2012) 0.83
CSF2RA, ANT3, and STS are autosomal in marsupials: implications for the origin of the pseudoautosomal region of mammalian sex chromosomes. Mamm Genome (1998) 0.82
Recombination has little effect on the rate of sequence divergence in pseudoautosomal boundary 1 among humans and great apes. Genome Res (2003) 0.82
The Y chromosome of the Okinawa spiny rat, Tokudaia muenninki, was rescued through fusion with an autosome. Chromosome Res (2012) 0.81
X chromosome-linked CNVs in male infertility: discovery of overall duplication load and recurrent, patient-specific gains with potential clinical relevance. PLoS One (2014) 0.81
Genomic identification and characterization of the pseudoautosomal region in highly differentiated avian sex chromosomes. Nat Commun (2014) 0.80
Multiple independent evolutionary losses of XY pairing at meiosis in the grey voles. Chromosome Res (2011) 0.80
Isodicentric Yq mosaicism presenting as infertility and maturation arrest without altered SRY and AZF regions. J Assist Reprod Genet (2012) 0.80
Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. J Endocrinol Invest (2016) 0.79
Meiotic Consequences of Genetic Divergence Across the Murine Pseudoautosomal Region. Genetics (2017) 0.77
A region of euchromatin coincides with an extensive tandem repeat on the mouse (Mus musculus) inactive X chromosome. Chromosome Res (2014) 0.76
Birth of a boy with isolated short stature after prenatal diagnosis of a Xp22.3 nullosomy due to an inherited t(X;15) (p22.3;p10) translocation. Clin Case Rep (2014) 0.75
Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad Sci U S A (1986) 12.92
The synaptonemal complex in genetic segregation. Annu Rev Genet (1984) 5.53
An interspersed repeated sequence specific for human subtelomeric regions. EMBO J (1990) 5.30
Hypervariable telomeric sequences from the human sex chromosomes are pseudoautosomal. Nature (1985) 3.63
AN AIR-DRYING METHOD FOR MEIOTIC PREPARATIONS FROM MAMMALIAN TESTES. Cytogenetics (1964) 3.56
Recognition of a chromosome truncation site associated with alpha-thalassaemia by human telomerase. Nature (1991) 3.28
Variability at the telomeres of the human X/Y pseudoautosomal region. Cold Spring Harb Symp Quant Biol (1986) 3.17
A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature (1990) 2.58
Clustering of hypervariable minisatellites in the proterminal regions of human autosomes. Genomics (1988) 2.34
Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature (1985) 2.14
Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med (1984) 1.70
Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet (1990) 1.51
On the nature and extent of XY pairing at meiotic prophase in man. Cytogenet Cell Genet (1984) 1.46
The mammalian pseudoautosomal region. Trends Genet (1989) 1.35
Synaptosomal complexes and associated structures in microspread human spermatocytes. Chromosoma (1980) 1.31
Homologous expressed genes in the human sex chromosome pairing region. Nature (1985) 1.21
Sex-chromosome pairing and male fertility. Cytogenet Cell Genet (1974) 1.20
Assignment of human 3-hydroxy-3-methylglutaryl coenzyme A reductase gene to q13----q23 region of chromosome 5. Somat Cell Mol Genet (1986) 1.12
Genetic basis of X-Y chromosome dissociation and male sterility in interspecific hybrids. Proc Natl Acad Sci U S A (1991) 1.10
Deletion of the pseudoautosomal region and lack of sex-chromosome pairing at pachytene in two infertile men carrying an X;Y translocation. Cytogenet Cell Genet (1990) 1.04
Prophase of meiosis in human spermatocytes analysed by EM microspreading in infertile men and their controls and comparisons with human oocytes. Hum Genet (1990) 1.01
Isolation of genomic clones homologous to transcribed sequences from human X chromosome. Somat Cell Mol Genet (1984) 1.00
Meiotic studies on a subfertile patient with a ring Y chromosome. Cytogenetics (1971) 0.92
A long range restriction map of the distal human X chromosome short arm around the steroid sulfatase locus. Nucleic Acids Res (1990) 0.89
Persistence of two Y chromosomes through meiotic prophase and metaphase I in an XYY man. Hum Genet (1991) 0.87
Two different XY-quadrivalent associations and impairment of fertility in men. Cytogenet Cell Genet (1987) 0.82
X-Y chromosome dissociation and sterility in the mouse. Cytogenet Cell Genet (1973) 0.82
Reactivation of an inactive human X chromosome: evidence for X inactivation by DNA methylation. Science (1981) 5.28
Inherited disorders of lysosomal metabolism. Annu Rev Biochem (1975) 3.26
X-linked ichthyosis due to steroid-sulphatase deficiency. Lancet (1978) 3.00
A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts. Biochem Biophys Res Commun (1974) 2.83
Non-inactivation of an x-chromosome locus in man. Science (1979) 2.74
Differential methylation of hypoxanthine phosphoribosyltransferase genes on active and inactive human X chromosomes. Proc Natl Acad Sci U S A (1984) 2.52
Electron microscopic visualization of tRNA genes with ferritin-avidin: biotin labels. Nucleic Acids Res (1978) 2.24
Transformation with DNA from 5-azacytidine-reactivated X chromosomes. Proc Natl Acad Sci U S A (1982) 2.22
A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell (1993) 2.15
Regional assignment of the steroid sulfatase-X-linked ichthyosis locus: implications for a noninactivated region on the short arm of human X chromosome. Proc Natl Acad Sci U S A (1979) 2.13
The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am J Hum Genet (1992) 2.02
Expression of an X-linked gene from an inactive human X chromosome in mouse-human hybrid cells: further evidence for the noninactivation of the steroid sulfatase locus in man. Proc Natl Acad Sci U S A (1980) 2.00
Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. Cell (1987) 1.99
The cell surface antigen locus, MIC2X, escapes X-inactivation. Am J Hum Genet (1984) 1.84
Cell cycle-specific reactivation of an inactive X-chromosome locus by 5-azadeoxycytidine. Proc Natl Acad Sci U S A (1982) 1.84
Differential expression of steroid sulphatase locus on active and inactive human X chromosome. Nature (1982) 1.75
Evidence bearing on the coincidence of exchange and DNA replication in the oöcyte of Drosophila melanogaster. Proc Natl Acad Sci U S A (1965) 1.74
Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome. N Engl J Med (1984) 1.70
Enzymatic basis of typical X-linked icthyosis. Lancet (1978) 1.60
Steroid sulfatase deficiency. Pediatr Res (1977) 1.56
Human and mouse amelogenin gene loci are on the sex chromosomes. Genomics (1989) 1.54
Sequence arrangement of tRNA genes on a fragment of Drosophila melanogaster DNA cloned in E. coli. Cell (1977) 1.54
Cytogenetics and infertility in man. I. Karyotype and seminal analysis: results of a five-year survey of men attending a subfertility clinic. Ann Hum Genet (1975) 1.48
On the nature and extent of XY pairing at meiotic prophase in man. Cytogenet Cell Genet (1984) 1.46
Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1. Genomics (2000) 1.46
The gross anatomy of a tRNA gene cluster at region 42A of the D. melanogaster chromosome. Cell (1980) 1.44
Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am J Hum Genet (1991) 1.43
The origin of chromosomal aberrations in man and their potential for survival and reproduction in the adult human population. Ann Genet (1981) 1.39
The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution. Cell (1988) 1.36
Frequent deletions of the human X chromosome distal short arm result from recombination between low copy repetitive elements. Cell (1990) 1.36
Chromosome survey of total population of mentally subnormal in North-East of Scotland. J Med Genet (1976) 1.32
Meiosis in the foetal mouse ovary. I. An analysis at the light microscope level using surface-spreading. Chromosoma (1982) 1.31
Centromere staining at meiosis in man. Humangenetik (1973) 1.31
Morphological and temporal sequence of meiotic prophase development at puberty in the male mouse. J Cell Sci (1984) 1.29
Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy. Am J Hum Genet (1981) 1.29
Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc Natl Acad Sci U S A (1997) 1.29
Translocation heterozygosity and associated subfertility in man. Cytogenetics (1972) 1.25
Late replication studies in a human X/13 translocation: correlation with autosomal gene expression. Cytogenet Cell Genet (1981) 1.25
Estimation of aneuploidy levels in human spermatozoa using chromosome specific probes and in situ hybridisation. Hum Genet (1984) 1.25
Partial characterization of the sexual agglutination factor from Hansenula wingei Y-2340 type 5 cells. Biochemistry (1974) 1.23
Cloning and expression of the mouse pseudoautosomal steroid sulphatase gene (Sts). Nat Genet (1996) 1.20
Evolution of the pseudoautosomal boundary in Old World monkeys and great apes. Cell (1990) 1.20
Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Hum Genet (1992) 1.19
Towards the molecular localisation of the AZF locus: mapping of microdeletions in azoospermic men within 14 subintervals of interval 6 of the human Y chromosome. Hum Mol Genet (1992) 1.19
Cytogenetics and infertility in man. II. Testicular histology and meiosis. Ann Hum Genet (1976) 1.19
Meiosis in the male mouse. An autoradiographic investigation. Chromosoma (1970) 1.19
Association of the mouse infertility factor DAZL1 with actively translating polyribosomes. Biol Reprod (2000) 1.18
Comparison and application of a novel genotyping method, semiautomated primer-specific and mispair extension analysis, and four other genotyping assays for detection of hepatitis C virus mixed-genotype infections. J Clin Microbiol (2000) 1.18
Metachromatic leukodystrophy without arylsulfatase A deficiency. Pediatr Res (1979) 1.15
The sequence arrangement of Drosophila melanogaster 5s DNA cloned in recombinant plasmids. Cell (1977) 1.14
A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome. Nat Genet (1997) 1.14
Isolation and characterization of XE169, a novel human gene that escapes X-inactivation. Hum Mol Genet (1994) 1.12
Structure and immunochemistry of Hansenula wingei Y-2340 mannan. Biochemistry (1974) 1.12
Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase. Proc Natl Acad Sci U S A (2003) 1.12
Polymerase chain reaction screening for Y chromosome microdeletions: a first step towards the diagnosis of genetically-determined spermatogenic failure in men. Mol Hum Reprod (1996) 1.11
Application of the "distributive pairing" hypothesis to problems of segregation in translocation heterozygotes of Drosophila melanogaster. Genetics (1965) 1.10
Genetic evidence for the inactivation of a human autosomal locus attached to an inactive X chromosome. Am J Hum Genet (1982) 1.10
A human DAZ transgene confers partial rescue of the mouse Dazl null phenotype. Proc Natl Acad Sci U S A (1999) 1.10
Steroid sulfatase deficiency and the genetics of the short arm of the human X chromosome. Adv Hum Genet (1985) 1.09
Frequency of reactivation and variability in expression of X-linked enzyme loci. Am J Hum Genet (1984) 1.09
Expression of the X-inactivation-associated gene XIST during spermatogenesis. Nat Genet (1992) 1.07
The chromosomal basis of human infertility. Br Med Bull (1979) 1.07
Estimating sex ratio biases in X-linked disorders: is there an excess of males in families with X-linked ichthyosis? Am J Hum Genet (1979) 1.07
The effects of ageing on the meiotic chromosomes of male and female mice. Chromosoma (1977) 1.07
Meiosis in interspecific equine hybrids. I. The male mule (Equus asinus X E. caballus) and hinny (E. caballus X E. asinus). Cytogenet Cell Genet (1974) 1.07
Studies on oogenesis in Drosophila melanogaster with 3-H-thymidine label. Exp Cell Res (1966) 1.07
Maternal ageing and aneuploid embryos--evidence from the mouse that biological and not chronological age is the important influence. Hum Genet (1984) 1.05
Assignment of the gene for human DNA polymerase alpha to the X chromosome. Proc Natl Acad Sci U S A (1985) 1.02
Genetic mapping of the adenine nucleotide translocase-2 gene (Ant2) to the mouse proximal X chromosome. Genomics (1996) 1.02
Biochemical analysis of meiosis in the male mouse. I. Separation of DNA labelling of specific spermatogenic stages. Chromosoma (1977) 1.01
Prophase of meiosis in human spermatocytes analysed by EM microspreading in infertile men and their controls and comparisons with human oocytes. Hum Genet (1990) 1.01
Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts. Am J Hum Genet (1978) 1.01
Rapid evolution of human pseudoautosomal genes and their mouse homologs. Mamm Genome (1996) 1.00
Chromosome abnormalities as a cause of infertility in mares. J Reprod Fertil Suppl (1975) 1.00
Isolation of genomic clones homologous to transcribed sequences from human X chromosome. Somat Cell Mol Genet (1984) 1.00
High frequency de novo alterations in the long-range genomic structure of the mouse pseudoautosomal region. Nat Genet (1996) 0.98
Comparative mapping of YRRM- and TSPY-related cosmids in man and hominoid apes. Chromosome Res (1995) 0.98
Oocyte development in XO foetuses of man and mouse: the possible role of heterologous X-chromosome pairing in germ cell survival. Chromosoma (1986) 0.98
New discoveries of skeletal elements of Hadropithecus stenognathus from Andrahomana Cave, southeastern Madagascar. J Hum Evol (2006) 0.97
A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C. Ann Neurol (1986) 0.97
X/Y translocations resulting from recombination between homologous sequences on Xp and Yq. Proc Natl Acad Sci U S A (1991) 0.97
Characterization of a low copy repetitive element S232 involved in the generation of frequent deletions of the distal short arm of the human X chromosome. Nucleic Acids Res (1992) 0.97
Pericentric inversion in human chromosome 1 and the risk for male sterility. J Med Genet (1987) 0.96
A model for effective pairing and recombination at meiosis based on early replicating sites (R-bands) along chromosomes. Hum Genet (1986) 0.96
Cum mula peperit. J R Soc Med (1985) 0.96
The murine Xe169 gene escapes X-inactivation like its human homologue. Nat Genet (1994) 0.96