Published in J Med Genet on May 01, 2002
Neurofibromatosis type 2 (NF2): a clinical and molecular review. Orphanet J Rare Dis (2009) 2.00
Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes. J Med Genet (2005) 1.72
Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification. J Med Genet (2007) 1.08
Evidence of polyclonality in neurofibromatosis type 2-associated multilobulated vestibular schwannomas. Neuro Oncol (2014) 0.86
Loss of heterozygosity on chromosome 10q22-10q23 and 22q11.2-22q12.1 and p53 gene in primary hepatocellular carcinoma. World J Gastroenterol (2004) 0.86
Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction. J Mol Diagn (2005) 0.79
Multifocality in neurofibromatosis type 2. Neuro Oncol (2014) 0.77
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. Hum Genet (2016) 0.75
Vestibular schwannoma in a patient with neurofibromatosis type 1: clinical report and literature review. Fam Cancer (2015) 0.75
The 1993-94 Généthon human genetic linkage map. Nat Genet (1994) 17.64
A second-generation linkage map of the human genome. Nature (1992) 16.32
A gene map of the human genome. Science (1996) 14.32
Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2. Nature (1993) 6.67
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. Cell (1993) 6.29
A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet (1992) 3.63
A clinical study of type 2 neurofibromatosis. Q J Med (1992) 3.23
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22. Nature (1987) 2.32
Neurofibromatosis 2 (bilateral acoustic neurofibromatosis). N Engl J Med (1988) 2.16
Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity. Am J Med Genet (1994) 1.84
Exon scanning for mutation of the NF2 gene in schwannomas. Hum Mol Genet (1994) 1.62
Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. Am J Hum Genet (1996) 1.52
Type 2 neurofibromatosis: the need for supraregional care? J Laryngol Otol (1993) 1.42
Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. Am J Hum Genet (1998) 1.36
Screening for germ-line mutations in the NF2 gene. Genes Chromosomes Cancer (1995) 1.35
Bilateral acoustic neuromas: clinical aspects, pathogenesis, and treatment. Neurosurgery (1982) 1.34
Mutational analysis of patients with neurofibromatosis 2. Am J Hum Genet (1994) 1.17
Mosaicism in sporadic neurofibromatosis 2 patients. Hum Mol Genet (1998) 1.14
NF2 gene in neurofibromatosis type 2 patients. Hum Mol Genet (1998) 1.11
Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. Hum Mol Genet (1994) 1.07
Identification of NF2 germ-line mutations and comparison with neurofibromatosis 2 phenotypes. Hum Genet (1996) 1.05
Highly polymorphic dinucleotide repeat at the NF2 gene. Hum Genet (1995) 1.03
Dinucleotide repeat polymorphism at the D22S268 locus. Hum Mol Genet (1993) 1.00
Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma. J Neurol Neurosurg Psychiatry (1999) 0.91
Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas. J Med Genet (1998) 0.88
A clinical, genetic and audiological study of patients and families with unilateral vestibular schwannomas. I. Clinical features of neurofibromatosis in patients with unilateral vestibular schwannomas. J Laryngol Otol (1996) 0.85
Magnetic resonance imaging: a cost-effective first line investigation in the detection of vestibular schwannomas. Br J Neurosurg (1995) 0.78
Oral lesions in sheep and cattle in Dumfries and Galloway. Vet Rec (2001) 7.78
Effect of atenolol on mortality and cardiovascular morbidity after noncardiac surgery. Multicenter Study of Perioperative Ischemia Research Group. N Engl J Med (1996) 7.26
Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet (2005) 6.18
A family of human cdc2-related protein kinases. EMBO J (1992) 4.96
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia. Mol Psychiatry (2011) 4.91
Heterodimerization of the transcription factors E2F-1 and DP-1 leads to cooperative trans-activation. Genes Dev (1993) 4.14
Receptor-specific adhesion and clinical disease in Plasmodium falciparum. Am J Trop Med Hyg (1997) 3.92
Cystic fibrosis carrier testing in early pregnancy by general practitioners. BMJ (1993) 3.85
Power of linkage versus association analysis of quantitative traits, by use of variance-components models, for sibship data. Am J Hum Genet (2000) 3.69
One thousand health-related quality-of-life estimates. Med Care (2000) 3.53
Anaesthesia for microsurgery of the larynx. Ann R Coll Surg Engl (1982) 3.01
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet (1999) 3.01
Education, age, and the cumulative advantage in health. J Health Soc Behav (1996) 2.93
Cables links Cdk5 and c-Abl and facilitates Cdk5 tyrosine phosphorylation, kinase upregulation, and neurite outgrowth. Neuron (2000) 2.82
Accuracy of magnetic resonance imaging in determining cause of sudden death in adults: comparison with conventional autopsy. Histopathology (2003) 2.75
Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening. J Med Genet (2006) 2.68
Human gene expression profiles of susceptibility and resistance in tuberculosis. Genes Immun (2010) 2.38
Amisulpride augmentation of clozapine: an open non-randomized study in patients with schizophrenia partially responsive to clozapine. Acta Psychiatr Scand (2004) 2.24
Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder. Mol Psychiatry (2010) 2.21
Genome-wide significant associations in schizophrenia to ITIH3/4, CACNA1C and SDCCAG8, and extensive replication of associations reported by the Schizophrenia PGC. Mol Psychiatry (2012) 2.20
BRAF mutation testing algorithm for vemurafenib treatment in melanoma: recommendations from an expert panel. Br J Dermatol (2013) 2.17
Equivalence between Haseman-Elston and variance-components linkage analyses for sib pairs. Am J Hum Genet (2001) 2.16
Cystic fibrosis carrier screening at first diagnosis of pregnancy in general practice. Lancet (1992) 2.16
Thyrotoxic, hypokalaemic periodic paralysis in Australasian men. Intern Med J (2003) 2.14
Hirayama disease: MR diagnosis. AJNR Am J Neuroradiol (1998) 2.14
Genetic influence on language delay in two-year-old children. Nat Neurosci (1998) 2.06
Polymorphisms in FKBP5 are associated with peritraumatic dissociation in medically injured children. Mol Psychiatry (2005) 1.91
The styloid process syndrome: aetiological factors and surgical management. J Laryngol Otol (1977) 1.88
Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet (2008) 1.87
A genome-wide scan of 1842 DNA markers for allelic associations with general cognitive ability: a five-stage design using DNA pooling and extreme selected groups. Behav Genet (2001) 1.86
Schizophrenia susceptibility alleles are enriched for alleles that affect gene expression in adult human brain. Mol Psychiatry (2011) 1.84
Nuclear localization of DP and E2F transcription factors by heterodimeric partners and retinoblastoma protein family members. J Cell Sci (1996) 1.84
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet (2006) 1.80
Cerebral palsy and socioeconomic status: a retrospective cohort study. Arch Dis Child (2005) 1.77
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening. J Med Genet (2007) 1.77
Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes. J Med Genet (2005) 1.72
Intracochlear factors contributing to psychophysical percepts following cochlear implantation. Acta Otolaryngol (1998) 1.68
Isolation and characterization of eight lipid A precursors from a 3-deoxy-D-manno-octylosonic acid-deficient mutant of Salmonella typhimurium. J Biol Chem (1985) 1.67
A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS. Neurology (2009) 1.67
Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein. J Med Genet (2001) 1.66
Gastric volume and pH in infants fed clear liquids and breast milk prior to surgery. Anesth Analg (1994) 1.64
Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder. Mol Psychiatry (2010) 1.63
Hepatitis C virus not found in fulminant non-A, non-B hepatitis. Ann Intern Med (1991) 1.58
Genome-wide association study of obsessive-compulsive disorder. Mol Psychiatry (2012) 1.57
Aggregates from mutant and wild-type alpha-synuclein proteins and NAC peptide induce apoptotic cell death in human neuroblastoma cells by formation of beta-sheet and amyloid-like filaments. FEBS Lett (1998) 1.55
Evaluation of clinical diagnostic criteria for neurofibromatosis 2. Neurology (2002) 1.53
Molecular requirements for B-lymphocyte activation by Escherichia coli lipopolysaccharide. Proc Natl Acad Sci U S A (1983) 1.51
Comparison of two versus three smears in identifying culture-positive tuberculosis patients in a rural African setting with high HIV prevalence. Int J Tuberc Lung Dis (2001) 1.48
Plants genetically modified to produce N-acylhomoserine lactones communicate with bacteria. Nat Biotechnol (1999) 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
Support for involvement of neuregulin 1 in schizophrenia pathophysiology. Mol Psychiatry (2005) 1.44
Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort. Br J Cancer (2004) 1.43
Genome-wide association study of Tourette's syndrome. Mol Psychiatry (2012) 1.42
Nondepolarizing neuromuscular blockers inhibit the serotonin-type 3A receptor expressed in Xenopus oocytes. Anesth Analg (2000) 1.41
Management of neurofibromatosis type 2. Ear Nose Throat J (1999) 1.40
Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations. Fam Cancer (2012) 1.39
Recovery from sensorineural deafness in Wegener's granulomatosis. J Laryngol Otol (1989) 1.39
Vestibular schwannoma. J R Soc Med (1993) 1.39
Effects of Iron and Chelating Agents on Dark Carboxylation Reactions in Plant Homogenates. Plant Physiol (1959) 1.39
Peritoneal-uterine communication: a complication of prolonged embedding of a peritoneal catheter. Perit Dial Int (2012) 1.38
Cerebrospinal fluid leak rate after the use of BioGlue in translabyrinthine vestibular schwannoma surgery: a prospective study. Otol Neurotol (2006) 1.38
Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis. Am J Hum Genet (1998) 1.36
Effects of the mutations Ala30 to Pro and Ala53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson's disease. FEBS Lett (1998) 1.35
Genetic investigation of chromosome 5q GABAA receptor subunit genes in schizophrenia. Mol Psychiatry (2005) 1.34
Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. J Med Genet (2004) 1.30
Update on the Manchester Scoring System for BRCA1 and BRCA2 testing. J Med Genet (2005) 1.29
Alpha-methylacyl-CoA racemase: a multi-institutional study of a new prostate cancer marker. Histopathology (2004) 1.29
Single amino acid codon changes detected in louping ill virus antibody-resistant mutants with reduced neurovirulence. J Gen Virol (1993) 1.28
Molecular genetics in the National Health Service in Britain. J Med Genet (1989) 1.27
The uptake and acceptability to patients of cystic fibrosis carrier testing offered in pregnancy by the GP. J Med Genet (1997) 1.26
Sinonasal lymphoma: a clinicopathologic analysis of 58 cases from the Massachusetts General Hospital. Am J Surg Pathol (1999) 1.26
Highly discordant T cell responses in individuals with recent exposure to household tuberculosis. Thorax (2008) 1.22
Interrelationships of inbred rat strains with respect to Ag-B and non-Ag-B antigens. Transplantation (1971) 1.22
Magnetic resonance imaging of acoustic neuromas: the role of gadolinium-DTPA. Br J Radiol (1988) 1.21
Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis. Hum Mutat (1999) 1.21
Clinical electrocochleography in the diagnosis and management of Meneère's disorder. Audiology (1977) 1.20
Paediatric presentation of type 2 neurofibromatosis. Arch Dis Child (1999) 1.20
Factors mediating changes in sexual HIV risk behaviors among gay and bisexual male adolescents. Am J Public Health (1994) 1.19
Limited spatial clustering of individual Plasmodium falciparum alleles in field isolates from coastal Kenya. Am J Trop Med Hyg (1997) 1.18
The effect of a sitting vs supine posture on normative esophageal pressure topography metrics and Chicago Classification diagnosis of esophageal motility disorders. Neurogastroenterol Motil (2012) 1.18
Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up. Br J Cancer (2007) 1.18
Polygenic dissection of the bipolar phenotype. Br J Psychiatry (2011) 1.17
Molecular basis of splotch and Waardenburg Pax-3 mutations. Proc Natl Acad Sci U S A (1994) 1.17
Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample. Mol Psychiatry (2012) 1.16
Trigeminal schwannomas. Br J Neurosurg (2008) 1.16
A common KIR2DS4 deletion variant in the human that predicts a soluble KIR molecule analogous to the KIR1D molecule observed in the rhesus monkey. Tissue Antigens (2002) 1.16
Vascular endothelial growth factor expression correlates with tumour grade and vascularity in gliomas. Histopathology (2001) 1.15
The susceptibility of mycobacteria to rifamide and rifampicin. Tubercle (1967) 1.14
Otoadmittance measurements in patients with rheumatoid arthritis. J Laryngol Otol (1977) 1.14
Plasmodium chabaudi: effect of antimalarial drugs on gametocytogenesis. Exp Parasitol (1999) 1.14
Nucleotide sequence and expression of a ripening and water stress-related cDNA from tomato with homology to the MIP class of membrane channel proteins. Plant Mol Biol (1994) 1.13
Petrosal cholesteatoma: management considerations for minimizing morbidity. Am J Otol (1999) 1.11
Predictive testing for BRCA1/2: attributes, risk perception and management in a multi-centre clinical cohort. Br J Cancer (2002) 1.11
Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis. Br J Cancer (2010) 1.11
The inhibitory effect of Staphylococcus epidermidis slime on the phagocytosis of murine peritoneal macrophages is interferon-independent. Microbiol Immunol (1998) 1.10
GENESiS: creating a composite index of the vulnerability to anxiety and depression in a community-based sample of siblings. Twin Res (2000) 1.10