Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.

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Published in Hum Mol Genet on May 01, 1994

Authors

D Bourn1, S A Carter, S Mason, D Gareth, R Evans, T Strachan

Author Affiliations

1: Department of Human Genetics, University of Newcastle upon Tyne, UK.

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Endotoxin and double stranded RNA render macrophages cytotoxic. Nat New Biol (1971) 5.29

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The immunoglobulin nature of the antigen recognition site on cells mediating transplantation immunity and delayed hypersentivity. J Immunol (1970) 3.08

Macrophages in syngeneic animal tumours. Transplantation (1972) 3.02

A new locus for autosomal dominant retinitis pigmentosa on chromosome 7p. Nat Genet (1993) 2.97

Phosphorylation of CREB at Ser-133 induces complex formation with CREB-binding protein via a direct mechanism. Mol Cell Biol (1996) 2.84

National survey of prevalence of asthma among children in the United States, 1976 to 1980. Pediatrics (1988) 2.76

Prevalence of cognitive impairment: data from the Indianapolis Study of Health and Aging. Neurology (2001) 2.67

Characteristics of inner-city children with asthma: the National Cooperative Inner-City Asthma Study. Pediatr Pulmonol (1997) 2.63

The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet (2000) 2.59

Mice overexpressing human uncoupling protein-3 in skeletal muscle are hyperphagic and lean. Nature (2000) 2.56

Dynamics of concerted evolution of ribosomal DNA and histone gene families in the melanogaster species subgroup of Drosophila. J Mol Biol (1982) 2.54

Cytoplasmic recruitment of INI1 and PML on incoming HIV preintegration complexes: interference with early steps of viral replication. Mol Cell (2001) 2.53

Patterns of injuries to children on public playgrounds. Arch Dis Child (1994) 2.53

Compliance with national asthma management guidelines and specialty care: a health maintenance organization experience. Arch Intern Med (1998) 2.52

Multimodal therapy for the management of nonpelvic, localized Ewing's sarcoma of bone: intergroup study IESS-II. J Clin Oncol (1990) 2.48

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet (1998) 2.48

A comparative analysis of sextant and an extended 11-core multisite directed biopsy strategy. J Urol (2000) 2.46

The DNA sequence and biological annotation of human chromosome 1. Nature (2006) 2.42

National trends in the morbidity and mortality of asthma in the US. Prevalence, hospitalization and death from asthma over two decades: 1965-1984. Chest (1987) 2.34

Rendering macrophages specifically cytotoxic by a factor released from immune lymphoid cells. Transplantation (1971) 2.26

Complete nucleotide sequence of a functional class I HLA gene, HLA-A3: implications for the evolution of HLA genes. EMBO J (1984) 2.18

Differentiated functions expressed by cultured mouse lymphoma cells. II. Theta antigen, surface immunoglobulin and a receptor for antibody on cells of a thymoma cell line. J Immunol (1973) 2.14

Safety of surfaces and equipment for children in playgrounds. Lancet (1997) 2.12

Multimodal therapy for the management of primary, nonmetastatic Ewing's sarcoma of bone: a long-term follow-up of the First Intergroup study. J Clin Oncol (1990) 2.11

The use of automated data to identify complications and comorbidities of diabetes: a validation study. J Clin Epidemiol (1999) 2.06

Incidence and risk of transmission of HTLV III infections to staff at a London hospital, 1982-85. J Hosp Infect (1985) 2.04

Development of a residency/MPH program. Fam Med (2001) 2.04

Heredopathia atactica polyneuritiformis: Refsum's disease. Acta Neurol Scand (1985) 2.03

Acquisition of new DNA sequences after infection of chicken cells with avian myeloblastosis virus. J Virol (1974) 2.02

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Complete nucleotide sequence of a gene encoding a functional human class I histocompatibility antigen (HLA-CW3). EMBO J (1984) 1.92

Role of macrophages in tumour immunity. I. Co-operation between macrophages and lymphoid cells in syngeneic tumour immunity. Immunology (1972) 1.85

Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse. Nat Genet (1998) 1.83

Oligonucleotides in heterogeneous nuclear RNA: similarity of inverted repeats and RNA from repetitious DNA sites. Biochemistry (1978) 1.77

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Psychosocial characteristics of inner-city children with asthma: a description of the NCICAS psychosocial protocol. National Cooperative Inner-City Asthma Study. Pediatr Pulmonol (1997) 1.74

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Premature termination during adenovirus transcription. Nature (1979) 1.70

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Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development (2000) 1.66

Value of screening thyroid function in acute medical admissions to hospital. Clin Endocrinol (Oxf) (1990) 1.65

Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet (2000) 1.64

Monitoring the assembly of Ig light-chain amyloid fibrils by atomic force microscopy. Proc Natl Acad Sci U S A (1999) 1.63

Complications of laparoscopic nephrectomy in 185 patients: a multi-institutional review. J Urol (1995) 1.62

A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling. J Med Genet (1992) 1.62

Nonadherence consensus conference summary report. Am J Transplant (2009) 1.61

Contrast sensitivity in diabetics with and without background retinopathy. Arch Ophthalmol (1985) 1.61

The interplay of lymphoid cells and macrophages in tumour immunity. Ann Inst Pasteur (Paris) (1972) 1.61

Transient basophilia following the application of lymphatic pump techniques: a pilot study. J Am Osteopath Assoc (1998) 1.57

EVALUATE hysterectomy trial: a multicentre randomised trial comparing abdominal, vaginal and laparoscopic methods of hysterectomy. Health Technol Assess (2004) 1.56

Outcomes of a population-based asthma management program: quality of life, absenteeism, and utilization. Ann Allergy Asthma Immunol (2000) 1.55

The Leeds Dyspepsia Questionnaire: a valid tool for measuring the presence and severity of dyspepsia. Aliment Pharmacol Ther (1998) 1.52

The relationship of distal systolic pressures to healing of skin lesions in limbs with arterial occlusive disease, with special reference to diabetes mellitus. Scand J Clin Lab Invest Suppl (1973) 1.52

Estimation of body composition in Chinese and British men by ultrasonographic assessment of segmental adipose tissue volume. Br J Sports Med (1994) 1.52

A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet (1995) 1.52

Chronic lymphocytic leukemia incidence is substantially higher than estimated from tumor registry data. Cancer (2001) 1.48

Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations. J Med Genet (1998) 1.47

Pelvic girdle pain during pregnancy and puerperium. J Obstet Gynaecol (2011) 1.46

Efficacy of spinal manipulation for chronic headache: a systematic review. J Manipulative Physiol Ther (2001) 1.45

Relative importance of flow versus pressure in splanchnic perfusion during cardiopulmonary bypass in rabbits. Anesthesiology (2000) 1.45

A mutated retinoic acid receptor-alpha exhibiting dominant-negative activity alters the lineage development of a multipotent hematopoietic cell line. Genes Dev (1992) 1.44

Clinical measurement of systolic pressures in limbs with arterial occlusive disease. JAMA (1969) 1.44

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The HLA-AW24 gene: sequence, surroundings and comparison with the HLA-A2 and HLA-A3 genes. Immunogenetics (1985) 1.43

Thymus-derived lymphocytes produce an immunologically specific macrophage-arming factor. J Exp Med (1972) 1.43

Quality assurance and standardization of allergy extracts in allergy practice. J Allergy Clin Immunol (1989) 1.43

Inhibition of antibody-dependent cellular cytotoxicity and immunoglobulin synthesis by an antiserum prepared against a human B-cell Ia-like molecule. J Exp Med (1976) 1.41

Definition of authorship may be changed. Clinicians who enter patients into randomised controlled trials should be acknowledged. BMJ (1996) 1.40

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Latex concerns. Br Dent J (2008) 1.39

Decreased activity of the platelet Na+,K(+)-adenosine triphosphatase enzyme in allergic subjects. J Lab Clin Med (1990) 1.39

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Heterogeneity of human NK cells: comparison of effectors that lyse HSV-1-infected fibroblasts and K562 erythroleukemia targets. J Immunol (1983) 1.37

Differential inhibitory effects of lovastatin on protein isoprenylation and sterol synthesis. J Biol Chem (1990) 1.36

Role of the casein kinase I isoform, Hrr25, and the cell cycle-regulatory transcription factor, SBF, in the transcriptional response to DNA damage in Saccharomyces cerevisiae. Proc Natl Acad Sci U S A (1997) 1.36

Macrophage-mediated cytotoxicity: its possible role in rheumatoid arthritis. Ann N Y Acad Sci (1975) 1.36

Preventing injuries in public playgrounds through partnership between health services and local authority: community intervention study. BMJ (1999) 1.36

Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. Am J Hum Genet (1998) 1.36

Role of macrophages in tumour immunity. II. Involvement of a macrophage cytophilic factor during syngeneic tumour growth inhibition. Immunology (1972) 1.36

Vascular responses in diabetic peripheral neuropathy. Br Med J (1966) 1.35

Macrophage arginine metabolism and the inhibition or stimulation of cancer. J Immunol (1992) 1.35

Alpha-adrenergic hyper-responsiveness in asthma. N Engl J Med (1979) 1.35

Comprehensive immunization delivery in conjunction with influenza vaccination. Arch Intern Med (1986) 1.35

Indirect systolic pressures and pulse waves in arterial occlusive diseases of the lower extremities. Circulation (1968) 1.33

Spontaneous and induced leukemias of myeloid origin in recombinant inbred BXH mice. J Virol (1984) 1.33

Evidence for DNA modification in the maintenance of X-chromosome inactivation of adult mouse tissues. Proc Natl Acad Sci U S A (1982) 1.31

Penetrating injuries: how easy is it to see glass (and plastic) on radiographs? Br J Radiol (1985) 1.31