Published in Proc Nutr Soc on December 01, 1974
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
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
Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes. Proc Natl Acad Sci U S A (1997) 1.45
The apolipoprotein CII gene: subchromosomal localisation and linkage to the myotonic dystrophy locus. Hum Genet (1985) 1.31
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
Localisation of genetic markers and orientation of the linkage group on chromosome 19. Hum Genet (1984) 1.21
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
Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q. Genomics (1992) 1.06
Maternal ageing and aneuploid embryos--evidence from the mouse that biological and not chronological age is the important influence. Hum Genet (1984) 1.05
Minimal expression of myotonic dystrophy: a clinical and molecular analysis. J Med Genet (1992) 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
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
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
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
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
Retreat of the triplet repeat? Nat Genet (1993) 0.92
Gene mapping and chromosome 19. J Med Genet (1986) 0.92
A novel human cytochrome P450 gene (P450IIB): chromosomal localization and evidence for alternative splicing. Nucleic Acids Res (1988) 0.91
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
Myotonic dystrophy, knockouts, warts and all. Trends Genet (1996) 0.87
A study of DNA methylation in myotonic dystrophy. J Med Genet (1993) 0.87
Insertion/deletion polymorphism at D19S95 associated with the myotonic dystrophy CTG repeat. Hum Mol Genet (1992) 0.87
Regional localisations and linkage relationships of seven RFLPs and myotonic dystrophy on chromosome 19. Hum Genet (1986) 0.86
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 effects of normal and glucose syrup work diets on the performance of racing cyclists. J Sports Med Phys Fitness (1975) 0.85
The amyloid precursor-like protein (APLP) gene maps to the long arm of human chromosome 19. Genomics (1993) 0.85
The fine structure of the light organ of the New Zealand glow-worm Arachnocampa luminosa (Diptera: Mycetophilidae). Tissue Cell (1979) 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
Virtual cloning and physical mapping of a human T-box gene, TBX4. Genomics (2000) 0.82
The effect of a high carbohydrate diet on human recovery following prolonged work to exhaustion. Ergonomics (1974) 0.80
Effect of close and open spaced work trials upon endurance and body carbohydrate stores in trained endurance sportsmen. J Sports Med Phys Fitness (1975) 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
A transcript map of a 10-Mb region of chromosome 19: a source of genes for human disorders, including candidates for genes involved in asthma, heart defects, and eye development. Genomics (2000) 0.78
X-chromosome segregation, maternal age and aneuploidy in the XO mouse. Genet Res (1983) 0.78
The identification of exons from the MED/PSACH region of human chromosome 19. Genomics (1996) 0.78
Cryptonephric malpighian tubule system in a dipteran larva, the New Zealand glow-worm, Arachnocampa luminosa (Diptera: Mycetophilidae): a structural study. Tissue Cell (1980) 0.77
A high-resolution whole genome radiation hybrid map of human chromosome 17q22-q25.3 across the genes for GH and TK. Genomics (1996) 0.77
Regional specialization in the Malpighian tubules of the New Zealand glow-worm Arachnocampa luminosa (Diptera: mycetophilidae). The structure and function of type I and II cells. Tissue Cell (1979) 0.77
A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene. Am J Hum Genet (1996) 0.77
Six transcripts map within 200 kilobases of the myotonic dystrophy expanded repeat. Mamm Genome (1998) 0.77
The effect on plasma lipids of the isoenergetic replacement of table sucrose by dried glucose syrup (maize-syrup solids) in the normal diet of adult men over a period of 1 year. Br J Nutr (1980) 0.76
The structure and function of the smooth septate junction in a transporting epithelium: the Malpighian tubules of the New Zealand glow-worm Arachnocampa luminosa. Tissue Cell (1980) 0.75
Dietary pattern of carbohydrate provision and accident incidence in foundrymen. Proc Nutr Soc (1973) 0.75
Mapping human chromosomes in somatic cell hybrids using a low-copy-number repetitive sequence. Somat Cell Mol Genet (1986) 0.75
The DM mutation; diagnostic applications in the Finnish population. Clin Genet (1993) 0.75
Testing for the chemical induction of aneuploidy in the male mouse. Mutat Res (1986) 0.75
The effect of 4CMB on germ cells of the mouse. Mutat Res (1982) 0.75
Comparison of school attainments. Spec Educ (1969) 0.75
Myotonic dystrophy and gene mapping on human chromosome 19. Biotechnol Genet Eng Rev (1985) 0.75
Testing of 3 chemical compounds for aneuploidy induction in the female mouse. Mutat Res (1985) 0.75
Diet, physiological work and accident incidence of forge workers. Scand J Work Environ Health (1980) 0.75
Time of glucose syrup ingestion to alleviate initial exercise hypoglycaemia [proceedings]. Proc Nutr Soc (1976) 0.75
Plasma versus serum. Br Med J (1972) 0.75
A taste of our quality. Clin Lab Manage Rev (1993) 0.75
Changes in plasma lipids of man after substituting glucose-syrup solids for table sucrose [proceedings]. Proc Nutr Soc (1976) 0.75
The effect of a glucose syrup drink on plasma triglyceride concentrations after a high-fat meal and a low-fat meal. Proc Nutr Soc (1971) 0.75
Linkage relationships of the insulin receptor gene with the complement component 3, LDL receptor, apolipoprotein C2 and myotonic dystrophy loci on chromosome 19. Hum Genet (1986) 0.75
Variations in available carbohydrate and physical work ability with repeated prolonged severe exercise. Proc Nutr Soc (1973) 0.75
Short-term effects of feeding rats with glucose syrup fractions and dextrose. Br J Nutr (1973) 0.75
Some effects of glucose syrup ingestion during vigorous exercises of differing intensities and duration. Proc Nutr Soc (1972) 0.75
Blood glucose profiles in man after ingestion of glucose syrup fractions. Proc Nutr Soc (1975) 0.75