Published in Mutat Res on September 25, 1985
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature (1992) 8.85
Targeted integration of adeno-associated virus (AAV) into human chromosome 19. EMBO J (1991) 6.13
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet (1997) 4.92
Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proc Natl Acad Sci U S A (1991) 3.43
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet (1993) 2.42
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell (1992) 2.38
Unstable DNA sequence in myotonic dystrophy. Lancet (1992) 2.36
In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. Nucleic Acids Res (2001) 1.97
Assignment of human ferritin genes to chromosomes 11 and 19q13.3----19qter. Hum Genet (1985) 1.76
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
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet (1995) 1.67
Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker. Am J Hum Genet (1991) 1.64
Localization of a human Na+,K+-ATPase alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus. Genomics (1988) 1.55
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
Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes. Proc Natl Acad Sci U S A (1997) 1.45
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 apolipoprotein CII gene: subchromosomal localisation and linkage to the myotonic dystrophy locus. Hum Genet (1985) 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
Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. Hum Mol Genet (2001) 1.29
Mapping genetic markers on human chromosome 19 using subchromosomal fragments in somatic cell hybrids. Cytogenet Cell Genet (1986) 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
Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. Am J Hum Genet (1992) 1.25
Estimation of aneuploidy levels in human spermatozoa using chromosome specific probes and in situ hybridisation. Hum Genet (1984) 1.25
Translocation heterozygosity and associated subfertility in man. Cytogenetics (1972) 1.25
Localisation of genetic markers and orientation of the linkage group on chromosome 19. Hum Genet (1984) 1.21
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
Meiosis in the male mouse. An autoradiographic investigation. Chromosoma (1970) 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
A human candidate spermatogenesis gene, RBM1, is conserved and amplified on the marsupial Y chromosome. Nat Genet (1997) 1.14
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
Chromosomal assignment of c-MEL, a human transforming oncogene, to chromosome 19 (p13.2-q13.2). Somat Cell Mol Genet (1986) 1.09
Application of a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy. Br Med J (Clin Res Ed) (1986) 1.08
Stem cell factor (SCF), a novel hematopoietic growth factor and ligand for c-kit tyrosine kinase receptor, maps on human chromosome 12 between 12q14.3 and 12qter. Somat Cell Mol Genet (1991) 1.08
Studies on oogenesis in Drosophila melanogaster with 3-H-thymidine label. Exp Cell Res (1966) 1.07
The chromosomal basis of human infertility. Br Med Bull (1979) 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
Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q. Genomics (1992) 1.06
Minimal expression of myotonic dystrophy: a clinical and molecular analysis. J Med Genet (1992) 1.05
Maternal ageing and aneuploid embryos--evidence from the mouse that biological and not chronological age is the important influence. Hum Genet (1984) 1.05
High levels of allele loss at the FHIT and ATM genes in non-comedo ductal carcinoma in situ and grade I tubular invasive breast cancers. Cancer Res (1996) 1.04
Biochemical analysis of meiosis in the male mouse. I. Separation of DNA labelling of specific spermatogenic stages. Chromosoma (1977) 1.01
Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. Hum Mol Genet (1999) 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
Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q. Hum Genet (1991) 1.01
Chromosome abnormalities as a cause of infertility in mares. J Reprod Fertil Suppl (1975) 1.00
Comparative mapping of YRRM- and TSPY-related cosmids in man and hominoid apes. Chromosome Res (1995) 0.98
Pericentric inversion in human chromosome 1 and the risk for male sterility. J Med Genet (1987) 0.96
Cum mula peperit. J R Soc Med (1985) 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
Loss of heterozygosity in bilateral breast cancer. Breast Cancer Res Treat (2000) 0.95
Long-range restriction map of a region of human chromosome 19 containing the apolipoprotein genes, a CLL-associated translocation breakpoint, and two polymorphic MluI sites. Hum Genet (1989) 0.94
Localization of genes encoding apolipoproteins CI, CII, and E to the p13----cen region of human chromosome 19. Hum Genet (1985) 0.94
The use of surface spreading in the pachytene analysis of a human t (Y;17) reciprocal translocation. Cytogenet Cell Genet (1982) 0.94
Meiotic behavior of five human reciprocal translocations. Cytogenet Cell Genet (1976) 0.93
Meiotic analysis of two human reciprocal X-autosome translocations. Cytogenet Cell Genet (1988) 0.93
Close linkage of the human cytochrome P450IIA and P450IIB gene subfamilies: implications for the assignment of substrate specificity. Nucleic Acids Res (1989) 0.93
Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. Nat Genet (1994) 0.92
Meiotic studies on a subfertile patient with a ring Y chromosome. Cytogenetics (1971) 0.92
Retreat of the triplet repeat? Nat Genet (1993) 0.92
Gene mapping and chromosome 19. J Med Genet (1986) 0.92
Biochemical analysis of meiosis in the male mouse. II. DNA metabolism at pachytene. Chromosoma (1977) 0.91
A novel human cytochrome P450 gene (P450IIB): chromosomal localization and evidence for alternative splicing. Nucleic Acids Res (1988) 0.91
The effect of x-rays on female germ cells of Drosophila melanogaster. 3. A comparison with heat-treatment on crossing-over in the X-chromosome. Mutat Res (1968) 0.90
An RBM homologue maps to the mouse Y chromosome and is expressed in germ cells. Hum Mol Genet (1996) 0.90
Detection of a large TBX5 deletion in a family with Holt-Oram syndrome. J Med Genet (2001) 0.89
Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions. J Med Genet (1999) 0.88
Dynamic changes in the subnuclear organisation of pre-mRNA splicing proteins and RBM during human germ cell development. J Cell Sci (1998) 0.88
Meiosis in the foetal mouse ovary. II. Oocyte development and age-related aneuploidy. Does a production line exist? Chromosoma (1983) 0.87
Myotonic dystrophy, knockouts, warts and all. Trends Genet (1996) 0.87
Insertion/deletion polymorphism at D19S95 associated with the myotonic dystrophy CTG repeat. Hum Mol Genet (1992) 0.87
A study of DNA methylation in myotonic dystrophy. J Med Genet (1993) 0.87
The morphological sequence of XY pairing in the Norway rat Rattus norvegicus. Chromosoma (1984) 0.87
Molecular hybridization to meiotic chromosomes in man reveals sequence arrangement on the no. 9 chromosome and provides clues to the nature of "parameres". Cytogenet Cell Genet (1986) 0.86
Regional localisations and linkage relationships of seven RFLPs and myotonic dystrophy on chromosome 19. Hum Genet (1986) 0.86
Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation. Hum Genet (1990) 0.85
Linkage relationships of the apolipoprotein C1 gene and a cytochrome P450 gene (CYP2A) to myotonic dystrophy. Hum Genet (1990) 0.85
Identification, mapping, and phylogenomic analysis of four new human members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19. Genomics (1999) 0.85
The amyloid precursor-like protein (APLP) gene maps to the long arm of human chromosome 19. Genomics (1993) 0.85
A study of meiotic germ cells in the gonads of foetal mouse chimaeras. J Embryol Exp Morphol (1972) 0.84
Assignment of two of the translation initiation factor-4E (EIF4EL1 and EIF4EL2) genes to human chromosomes 4 and 20. Genomics (1991) 0.84
Trisomy 8. Report of a mosaic human male with near-normal phenotype and normal IQ, ascertained through infertility. Hum Genet (1980) 0.83
Short arm dicentric Y chromosome with associated statural defects in a sterile man. Hum Genet (1986) 0.83
The CBA mouse as a model for age-related aneuploidy in man: studies of oocyte maturation, spindle formation and chromosome alignment during meiosis. Chromosoma (1988) 0.83
Fertility investigations in the F1 hybrid and backcross progeny of cattle (Bos taurus) and yak (B. grunniens) in Mongolia. Cytogenet Cell Genet (1997) 0.82
Origins of genetic disease. Lancet (1990) 0.82
A fertile mule and hinny in China. Cytogenet Cell Genet (1988) 0.82
Radiation-initiated DNA synthesis in spermatogenic cells of the mouse. Exp Cell Res (1971) 0.82
Virtual cloning and physical mapping of a human T-box gene, TBX4. Genomics (2000) 0.82
Trisomy and triploidy induced by X-irradiation of mouse spermatocytes. Mutat Res (1975) 0.81
Infertility and chromosome abnormality. Oxf Rev Reprod Biol (1984) 0.81
"Unscheduled" DNA synthesis in human germ cells following UV irradiation. Exp Cell Res (1971) 0.81
Alterations to the microtubular cytoskeleton and increased disorder of chromosome alignment in spontaneously ovulated mouse oocytes aged in vivo: an immunofluorescence study. Chromosoma (1986) 0.80
Confirmation and refinement of the localisation of the c-MEL locus on chromosome 19 by physical and genetic mapping. Hum Genet (1989) 0.80
Meiosis in interspecific equine hybrids. II. The przewalski horse/domestic horse hybrid. Cytogenet Cell Genet (1974) 0.79
Cytogenetic studies of three equine hybrids. J Reprod Fertil Suppl (1975) 0.79