Published in Biochem Soc Trans on October 01, 1980
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Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet (2001) 6.96
A systematic, high-resolution linkage of the cytogenetic and physical maps of the human genome. Nat Genet (2000) 4.78
Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet (2000) 4.54
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Angiotensin-converting enzyme gene deletion polymorphism. A new risk factor for lacunar stroke but not carotid atheroma. Stroke (1995) 1.77
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein. Cell (1994) 1.65
Effect on patient management of a weekend 'on-call' nuclear medicine service. Nucl Med Commun (1994) 1.61
Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet (1994) 1.58
Role of snoring and daytime sleepiness in occupational accidents. Am J Respir Crit Care Med (2001) 1.50
Coupled chemical and mechanical reaction steps in a processive Neurospora kinesin. EMBO J (1999) 1.48
Angiotensin-converting enzyme gene polymorphism. What to do about all the confusion. Circulation (1996) 1.41
Unfairness for mouth cancer patients. Br Dent J (2012) 1.39
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A gene for lymphedema-distichiasis maps to 16q24.3. Am J Hum Genet (1999) 1.32
Is telomere length in peripheral blood lymphocytes correlated with cancer susceptibility or radiosensitivity? Br J Cancer (2007) 1.32
The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child (2006) 1.29
Chromosome specific paints from a high resolution flow karyotype of the mouse. Nat Genet (1995) 1.28
Does a Th1 over Th2 dominancy really exist in the early stages of Mycobacterium avium subspecies paratuberculosis infections? Immunobiology (2010) 1.25
Epilepsy monitoring and advice recorded: general practitioners' views, current practice and patients' preferences. Br J Gen Pract (1996) 1.25
General practitioner's knowledge of when to refer deaths to a coroner. Br J Gen Pract (1995) 1.22
Effect of hemorrhagic shock on transmembrane potential. Surgery (1969) 1.20
Adverse health effects among women living with heavy snorers. Health Care Women Int (2000) 1.16
Vitamin D receptor gene polymorphisms are associated with breast cancer risk in a UK Caucasian population. Br J Cancer (2001) 1.16
Excessive daytime sleepiness at work and subjective work performance in the general population and among heavy snorers and patients with obstructive sleep apnea. Chest (1996) 1.16
Sequence and transcriptional analysis of clpX, a class-III heat-shock gene of Bacillus subtilis. Gene (1996) 1.14
The dnaB-pheA (256 degrees-240 degrees) region of the Bacillus subtilis chromosome containing genes responsible for stress responses, the utilization of plant cell walls and primary metabolism. Microbiology (1996) 1.13
QT interval in twins. J Hum Hypertens (2000) 1.12
Radioimmunoassay of human muscle carbonic anhydrase III in dystrophic states. Clin Chim Acta (1982) 1.11
Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease. J Med Genet (1998) 1.10
The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings. Clin Genet (2013) 1.10
Milroy disease and the VEGFR-3 mutation phenotype. J Med Genet (2005) 1.10
Sleep-disordered breathing and occupational accidents. Scand J Work Environ Health (2000) 1.09
CD14 and toll-like receptor 4: a link between infection and acute coronary events? Heart (2004) 1.08
Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene. Hum Genet (2001) 1.07
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. Am J Hum Genet (2001) 1.06
Characterization of human carbonic anhydrase III from skeletal muscle. Biochem Genet (1979) 1.05
Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions. J Med Genet (2001) 1.03
Air weapon fatalities. J Clin Pathol (1998) 1.02
A comprehensive study of chromosome 16q in invasive ductal and lobular breast carcinoma using array CGH. Oncogene (2006) 1.01
Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts. Circulation (1999) 1.00
Sexual differentiation of rat liver carbonic anhydrase III. Biochim Biophys Acta (1983) 0.99
Angiotensin converting enzyme insertion/deletion polymorphism: association with ethnic origin. J Hypertens (1994) 0.99
Evidence-based recommendations for the use of negative pressure wound therapy in chronic wounds: steps towards an international consensus. J Tissue Viability (2011) 0.98
Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema. J Med Genet (2003) 0.98
Location of mutations within the PKD2 gene influences clinical outcome. Kidney Int (2000) 0.97
Haemochromatosis gene mutations in idiopathic dilated cardiomyopathy. Heart (2000) 0.97
Angiotensin converting enzyme gene I/D polymorphism, blood pressure and the renin-angiotensin system in Caucasian and Afro-Caribbean peoples. J Hum Hypertens (1996) 0.97
Prenatal diagnosis of a double bisatellited marker with an unusual copy number ratio. Prenat Diagn (1990) 0.97
Immunoassay of carbonic anhydrase III in rat tissues. FEBS Lett (1982) 0.96
Reversal of experimental allergic encephalomyelitis with non-mitogenic, non-depleting anti-CD3 mAb therapy with a preferential effect on T(h)1 cells that is augmented by IL-4. Int Immunol (2001) 0.96
Distribution of CAIII in fetal and adult human tissue. Biochem Genet (1980) 0.95
The adenosine transporter of Toxoplasma gondii. Identification by insertional mutagenesis, cloning, and recombinant expression. J Biol Chem (1999) 0.95
Restless Legs Syndrome among working-aged women. Eur Neurol (2001) 0.94
Energy dissipation in atomic force microscopy and atomic loss processes. Phys Rev Lett (2001) 0.94
Brooke-Spiegler syndrome locus assigned to 16q12-q13. J Invest Dermatol (2000) 0.94
Xanthine phosphoribosyltransferase from Leishmania donovani. Molecular cloning, biochemical characterization, and genetic analysis. J Biol Chem (1999) 0.93
Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval. Ann Hum Genet (2007) 0.93
A new classification system for primary lymphatic dysplasias based on phenotype. Clin Genet (2010) 0.92
Radioimmunoassay of carbonic anhydrase III in rat tissues. Biochem J (1984) 0.92
Carbonic anhydrase (CA)-related proteins (CA-RPs), and transmembrane proteins with CA or CA-RP domains. EXS (2000) 0.92
Susceptibility to ankylosing spondylitis. Rheumatology (Oxford) (2000) 0.92
Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci. Am J Med Genet (2001) 0.91
Epilepsy in general practice: patients' psychological symptoms and their perception of stigma. Br J Gen Pract (1996) 0.91
Evidence for reflex adrenergic inhibition of acid secretion in the conscious rat. Am J Physiol (1986) 0.91
Lurching, reeling, waddling and staggering in mice--is carbonic anhydrase (CA) VIII a candidate gene? Biochem Soc Trans (1994) 0.90
Heritability of DNA-damage-induced apoptosis and its relationship with age in lymphocytes from female twins. Br J Cancer (2006) 0.90
Carbonic anhydrase III in obese Zucker rats. Am J Physiol (1993) 0.89
Three children with Milroy disease and de novo mutations in VEGFR3. Clin Genet (2007) 0.89
The expression of carbonic anhydrases II and IV in the human pancreatic cancer cell line (Capan 1) is associated with bicarbonate ion channels. Biol Cell (1994) 0.88
Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs. J Med Genet (2005) 0.88
Effects of hypophysectomy and growth hormone infusion on rat hepatic carbonic anhydrases. J Endocrinol (1986) 0.88
Headache, snoring and sleep apnoea. J Neurol (1996) 0.88
Immunocytochemical localization of carbonic anhydrase isozymes I, II, and III in rat skeletal muscle. J Histochem Cytochem (1986) 0.87
Bruising in non-accidental head injured children; a retrospective study of the prevalence, distribution and pathological associations in 24 cases. Forensic Sci Int (1998) 0.87
Androgen-linked control of rat liver carbonic anhydrase III. Biosci Rep (1983) 0.87
Similar prevalence of enteroviral genome within the myocardium from patients with idiopathic dilated cardiomyopathy and controls by the polymerase chain reaction. Br Heart J (1992) 0.87
Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24. J Med Genet (1995) 0.87
Carbonic anhydrase II and carbonic anhydrase-related protein in the cerebellar cortex of normal and lurcher mice. Brain Res Dev Brain Res (1997) 0.87
Carbonic anhydrase III isoenzyme from human and bovine muscle [proceedings]. Biochem Soc Trans (1978) 0.87
Long QT and Harvey-ras. Lancet (1992) 0.86
Red cells genetically deficient in carbonic anhydrase II have elevated levels of a carbonic anhydrase indistinguishable from muscle CA III. Ann N Y Acad Sci (1984) 0.85
Congenital nystagmus cosegregating with a balanced 7;15 translocation. J Med Genet (1993) 0.85
Renin and atrial natriuretic peptide restriction fragment length polymorphisms: association with ethnicity and blood pressure. J Hypertens (1991) 0.85
Carbonic anhydrase II isoenzyme in rat liver is under hormonal control. Biochem J (1984) 0.85
Lack of c-kit mutation in familial urticaria pigmentosa. Br J Dermatol (1999) 0.85