Published in J Med Genet on September 01, 1991
Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol (1975) 503.08
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A (1977) 13.87
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature (1990) 10.97
A gene mapping to the sex-determining region of the mouse Y chromosome is a member of a novel family of embryonically expressed genes. Nature (1990) 7.93
Genetic evidence equating SRY and the testis-determining factor. Nature (1990) 3.22
X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet (1966) 2.68
Variable transfer of Y-specific sequences in XX males. Nucleic Acids Res (1986) 1.40
Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female. Nature (1990) 1.33
Genetic evidence that ZFY is not the testis-determining factor. Nature (1990) 1.30
Small deletions of the short arm of the Y chromosome in 46,XY females. Proc Natl Acad Sci U S A (1986) 1.27
Chromosome Y-specific DNA in related human XX males. Nature (1985) 1.26
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
Turner syndrome resulting from partial deletion of Y chromosome short arm: localization of male determinants. J Pediatr (1984) 1.15
Hormonal and clinical aspects of hermaphroditism and the testicular feminizing syndrome in man. Philos Trans R Soc Lond B Biol Sci (1970) 1.15
Genotype-phenotype correlations in XX males and their bearing on current theories of sex determination. Hum Genet (1990) 1.10
Normal and abnormal interchanges between the human X and Y chromosomes. Development (1987) 1.08
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
Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe. Hum Genet (1987) 1.00
A possible common origin of "Y-negative" human XX males and XX true hermaphrodites. Hum Genet (1990) 0.99
Sexual and somatic determinants of the human Y chromosome: studies in a 46,XYp- phenotypic female. Am J Hum Genet (1979) 0.96
Deletion mapping of the testis determining locus with DNA probes in 46,XX males and in 46,XY and 46,X,dic(Y) females. Nucleic Acids Res (1986) 0.96
The secret of sex. Lancet (1990) 0.93
The Y-chromosomal and autosomal testis-determining genes. Development (1987) 0.90
Two dicentric Y isochromosomes, one without and the Yqh heterochromatic segment: review of the Y isochromosomes. Hum Genet (1980) 0.83
Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome. Hum Genet (1990) 0.83
Ordering of Y-specific sequences by deletion mapping and analysis of X-Y interchange males and females. Development (1987) 0.83
Ullrich-Turner syndrome in an XY female fetus with deletion of the sex-determining portion of the Y chromosome. Am J Med Genet (1989) 0.81
A ZFY-negative 46,XX true hermaphrodite is positive for the Y pseudoautosomal boundary. Hum Genet (1990) 0.81
Sex, growth and chance. Nature (1990) 0.77
Minimum information about a microarray experiment (MIAME)-toward standards for microarray data. Nat Genet (2001) 63.36
Development and validation of a genetic algorithm for flexible docking. J Mol Biol (1997) 14.36
The DNA sequence and comparative analysis of human chromosome 20. Nature (2002) 7.40
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet (2001) 6.96
Papers that go beyond numbers (qualitative research) BMJ (1997) 5.48
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet (2000) 4.54
Suicide and political regime in New South Wales and Australia during the 20th century. J Epidemiol Community Health (2002) 4.44
Reversal of type 2 diabetes: normalisation of beta cell function in association with decreased pancreas and liver triacylglycerol. Diabetologia (2011) 3.97
The packing density in proteins: standard radii and volumes. J Mol Biol (1999) 3.48
IsoStar: a library of information about nonbonded interactions. J Comput Aided Mol Des (1997) 2.97
Sensitivity to reinforcement in concurrent arithmetic and exponential schedules. J Exp Anal Behav (1983) 2.71
Transforming growth factor-beta1 gene polymorphisms and coronary artery disease. Clin Sci (Lond) (1998) 2.68
Prevalence of diabetes and impaired glucose tolerance in the biracial (Melanesian and Indian) population of Fiji: a rural-urban comparison. Am J Epidemiol (1983) 2.60
Guidelines for the ethical conduct of medical research involving children. Royal College of Paediatrics, Child Health: Ethics Advisory Committee. Arch Dis Child (2000) 2.57
Treating electrical storm : sympathetic blockade versus advanced cardiac life support-guided therapy. Circulation (2000) 2.48
Nobel laureates' letter to President Bush. Washington Post (2001) 2.43
Grading and disease management in national screening for diabetic retinopathy in England and Wales. Diabet Med (2003) 2.40
Periodontitis and diabetes: a two-way relationship. Diabetologia (2011) 2.27
Involvement of XRCC1 and DNA ligase III gene products in DNA base excision repair. J Biol Chem (1997) 2.20
Interleukin-1 receptor antagonist gene polymorphism and coronary artery disease. Circulation (1999) 2.17
Bronchoalveolar lavage findings suggest two different forms of childhood asthma. Clin Exp Allergy (1997) 2.17
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet (2000) 2.14
Intramuscular triglyceride and muscle insulin sensitivity: evidence for a relationship in nondiabetic subjects. Metabolism (1996) 2.11
Evidence-based recommendations for the use of Negative Pressure Wound Therapy in traumatic wounds and reconstructive surgery: steps towards an international consensus. Injury (2011) 2.07
Coronary heart disease epidemics: not all the same. Heart (2008) 2.07
Unexpected Ebola virus in a tertiary setting: clinical and epidemiologic aspects. Crit Care Med (2000) 2.03
Couch or crouch? Examining the prostate: a randomized study comparing the knee-elbow and the left-lateral position. BJU Int (2001) 2.01
Medicine as social science: Rudolf Virchow on the typhus epidemic in Upper Silesia. Int J Health Serv (1985) 2.01
Establishing ongoing quality assurance in a retinal screening programme. Diabet Med (2006) 1.98
The effect of combined aerobic and resistance exercise training on vascular function in type 2 diabetes. J Am Coll Cardiol (2001) 1.95
Frequency and predictors of axillary lymph node metastases in invasive breast cancer. ANZ J Surg (2001) 1.93
Biochemical and histological effects of exendin-4 (exenatide) on the rat pancreas. Diabetologia (2009) 1.92
Effects of an engineered human anti-TNF-alpha antibody (CDP571) on insulin sensitivity and glycemic control in patients with NIDDM. Diabetes (1996) 1.91
Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet (2002) 1.91
A nurse led intermediate care package in patients who have been hospitalised with an acute exacerbation of chronic obstructive pulmonary disease. Thorax (2007) 1.89
Direct sequence evaluation of the major outer membrane protein gene variant regions of Chlamydia trachomatis subtypes D', I', and L2'. Infect Immun (1991) 1.89
The elderly as underconsulters: a critical reappraisal. J R Coll Gen Pract (1985) 1.84
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum Mol Genet (1998) 1.81
Angiotensin-converting enzyme gene deletion polymorphism. A new risk factor for lacunar stroke but not carotid atheroma. Stroke (1995) 1.77
Differential vulnerability of basal and apical hair cells is based on intrinsic susceptibility to free radicals. Hear Res (2001) 1.76
The effect of intravenous metformin on glucose metabolism during hyperglycaemia in type 2 diabetes. Diabet Med (1992) 1.73
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics (1997) 1.70
An evaluation of the Deltatrac indirect calorimeter by gravimetric injection and alcohol burning. Clin Phys Physiol Meas (1991) 1.70
Use of a computer for producing microbiological reports and for data storage and processing. J Clin Pathol (1975) 1.67
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet (1999) 1.67
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nat Genet (1993) 1.67
Predictors of local recurrence after treatment of ductal carcinoma in situ: a meta-analysis. Cancer (1999) 1.66
School-based secondary prevention programmes for preventing violence. Cochrane Database Syst Rev (2006) 1.65
SuperStar: a knowledge-based approach for identifying interaction sites in proteins. J Mol Biol (1999) 1.63
Politics, science, and the emergence of a new disease. The case of chronic fatigue syndrome. Am Psychol (1997) 1.63
Effect of increased free fatty acid supply on glucose metabolism and skeletal muscle glycogen synthase activity in normal man. Clin Sci (Lond) (1992) 1.60
An epidemic of burkholderia cepacia transmitted between patients with and without cystic fibrosis. J Infect Dis (1999) 1.59
Lung function in patients with diabetes mellitus. Respir Med (1990) 1.59
Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet (1994) 1.58
Suicide and unemployment in Australia 1907-1990. Soc Sci Med (1993) 1.56
Episodic hyperglycaemia in pregnant women with well-controlled Type 1 diabetes mellitus: a major potential factor underlying macrosomia. Diabet Med (1999) 1.56
New ways to look at the architecture of plant cell walls : localization of polygalacturonate blocks in plant tissues. Plant Physiol (1989) 1.55
Clinical and clinicopathologic findings in tropical canine pancytopenia. J Am Vet Med Assoc (1970) 1.54
Mydriasis and glaucoma: exploding the myth. A systematic review. Diabet Med (2000) 1.52
Fibrinogen levels during trauma hemorrhage, response to replacement therapy, and association with patient outcomes. J Thromb Haemost (2012) 1.51
The evidence base for the cost effectiveness of cardiac rehabilitation. Heart (1997) 1.50
Glycerol dehydrogenase. structure, specificity, and mechanism of a family III polyol dehydrogenase. Structure (2001) 1.48
The Angelman (Happy Puppet) syndrome: is it autosomal recessive? Clin Genet (1987) 1.45
Reactive hypoglycaemia in association with disordered islet function and abnormal hepatic glucose-6-phosphatase activity: response to diazoxide. Diabet Med (1991) 1.43
A review of health effects of aircraft noise. Aust N Z J Public Health (1997) 1.43
An upper limit on the stochastic gravitational-wave background of cosmological origin. Nature (2009) 1.42
Blood pressure studies in rural and urban Western Samoa. Med J Aust (1980) 1.41
Angiotensin-converting enzyme gene polymorphism. What to do about all the confusion. Circulation (1996) 1.41
Limitation of fasting plasma glucose for the diagnosis of diabetes mellitus. Diabetes Care (1982) 1.40
Cutaneous metastasis from papillary carcinoma of the thyroid gland. J Am Acad Dermatol (1991) 1.40
The Birmingham Rehabilitation Uptake Maximisation Study (BRUM). Home-based compared with hospital-based cardiac rehabilitation in a multi-ethnic population: cost-effectiveness and patient adherence. Health Technol Assess (2007) 1.39
Guar crispbread in the diabetic diet. Br Med J (1979) 1.39
A funny thing happened on the way to the scanner... Anaesthesia (1998) 1.39
Clavicular fracture in newborns. Clin Pediatr (Phila) (1997) 1.39
Assessment of an automatic enzyme reaction rate monitor. Clin Chim Acta (1970) 1.38
Plasma uric acid level and its association with diabetes mellitus and some biologic parameters in a biracial population of Fiji. Am J Epidemiol (1988) 1.36
Outcome for the foetus of mothers receiving prednisolone during pregnancy. Lancet (1968) 1.35
The bacteriology of the obstructed biliary tree. Ann R Coll Surg Engl (1973) 1.33
Evidence-based recommendations for negative pressure wound therapy: treatment variables (pressure levels, wound filler and contact layer)--steps towards an international consensus. J Plast Reconstr Aesthet Surg (2011) 1.33
A gene for lymphedema-distichiasis maps to 16q24.3. Am J Hum Genet (1999) 1.32
Some effects of smoking in pregnancy. J Obstet Gynaecol Br Commonw (1966) 1.32
Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol (1993) 1.30
Long-term impact of retinal screening on significant diabetes-related visual impairment in the working age population. Diabet Med (2009) 1.29
The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child (2006) 1.29
A comparison of four quality of life instruments in cardiac patients: SF-36, QLI, QLMI, and SEIQoL. Heart (2000) 1.28
Real-time assessment of postprandial fat storage in liver and skeletal muscle in health and type 2 diabetes. Am J Physiol Endocrinol Metab (2004) 1.28
Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study. Am J Hum Genet (1999) 1.28
Exhaled nitric oxide correlates with airway eosinophils in childhood asthma. Thorax (2002) 1.27
Prevalence of infection with herpes simplex virus types 1 and 2 in Australia: a nationwide population based survey. Sex Transm Infect (2006) 1.26
A cohort study of unemployment as a cause of psychological disturbance in Australian youth. Soc Sci Med (1994) 1.25
Epilepsy monitoring and advice recorded: general practitioners' views, current practice and patients' preferences. Br J Gen Pract (1996) 1.25
Total costs and predictors of costs in patients with systemic lupus erythematosus. Rheumatology (Oxford) (2001) 1.25
Development of an in vitro bioassay for Clostridium botulinum type B neurotoxin in foods that is more sensitive than the mouse bioassay. Appl Environ Microbiol (1999) 1.25
The harmful health effects of recreational ecstasy: a systematic review of observational evidence. Health Technol Assess (2009) 1.24
Improvement in endothelial function by angiotensin converting enzyme inhibition in insulin-dependent diabetes mellitus. J Clin Invest (1997) 1.22
The ultraviolet endonuclease of bacteriophage T4. Further characterization. J Biol Chem (1975) 1.21
Human cytotrophoblast invasion is up-regulated by epidermal growth factor: evidence that paracrine factors modify this process. Dev Biol (1994) 1.21
Combined aerobic and resistance exercise training improves functional capacity and strength in CHF. J Appl Physiol (1985) (2000) 1.20