Published in Epigenetics on January 01, 2015
Chordoma: an update on the pathophysiology and molecular mechanisms. Curr Rev Musculoskelet Med (2015) 0.84
Identification of Predictive DNA Methylation Biomarkers for Chemotherapy Response in Colorectal Cancer. Front Pharmacol (2017) 0.75
Medulloblastoma comprises four distinct molecular variants. J Clin Oncol (2010) 8.06
Epigenetic inactivation of a RAS association domain family protein from the lung tumour suppressor locus 3p21.3. Nat Genet (2000) 5.50
A beta-mixture quantile normalization method for correcting probe design bias in Illumina Infinium 450 k DNA methylation data. Bioinformatics (2012) 4.95
DNA methylation profiling in the clinic: applications and challenges. Nat Rev Genet (2012) 3.33
Brachyury, a crucial regulator of notochordal development, is a novel biomarker for chordomas. J Pathol (2006) 2.65
Chordoma: current concepts, management, and future directions. Lancet Oncol (2012) 2.63
The RASSF proteins in cancer; from epigenetic silencing to functional characterization. Biochim Biophys Acta (2009) 2.50
p53 activates expression of HIC-1, a new candidate tumour suppressor gene on 17p13.3. Nat Med (1995) 2.47
Comprehensive analysis of DNA methylation data with RnBeads. Nat Methods (2014) 2.03
Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study. J Pathol (2010) 1.91
Identification of nucleus pulposus precursor cells and notochordal remnants in the mouse: implications for disk degeneration and chordoma formation. Dev Dyn (2008) 1.91
Genome-wide analysis of sixteen chordomas by comparative genomic hybridization and cytogenetics of the first human chordoma cell line, U-CH1. Genes Chromosomes Cancer (2001) 1.61
Establishment and characterization of a primary human chordoma xenograft model. J Neurosurg (2012) 1.60
Harnessing the potential of epigenetic therapy to target solid tumors. J Clin Invest (2014) 1.20
Mining cancer methylomes: prospects and challenges. Trends Genet (2013) 1.14
Establishment and detailed functional and molecular genetic characterisation of a novel sacral chordoma cell line, MUG-Chor1. Int J Oncol (2011) 0.97
KANK1, a candidate tumor suppressor gene, is fused to PDGFRB in an imatinib-responsive myeloid neoplasm with severe thrombocythemia. Leukemia (2010) 0.91
Chordoma: the entity. Biochim Biophys Acta (2014) 0.91
Diagnosis and treatment of chordoma. J Natl Compr Canc Netw (2013) 0.88
Wnt signaling in osteosarcoma. Adv Exp Med Biol (2014) 0.88
Inflammation, infection, cancer and all that…the role of paraoxonases. Adv Exp Med Biol (2014) 0.86
Epigenetic profiling joins personalized cancer medicine. Expert Rev Mol Diagn (2013) 0.85
Chordoma characterization of significant changes of the DNA methylation pattern. PLoS One (2013) 0.84
A novel chordoma xenograft allows in vivo drug testing and reveals the importance of NF-κB signaling in chordoma biology. PLoS One (2013) 0.83
Functional epigenetic approach identifies frequently methylated genes in Ewing sarcoma. Epigenetics (2013) 0.83
RASSF2 methylation is a strong prognostic marker in younger age patients with Ewing sarcoma. Epigenetics (2013) 0.82
Molecular characterization of chordoma xenografts generated from a novel primary chordoma cell source and two chordoma cell lines. J Neurosurg Spine (2014) 0.81
Development of transplantable human chordoma xenograft for preclinical assessment of novel therapeutic strategies. Neuro Oncol (2014) 0.78
New insights into the role of NF1 in cancer. Neoplasma (2013) 0.77
The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis. Nature (1999) 23.45
Inflammation and Alzheimer's disease. Neurobiol Aging (2000) 12.56
Isolation and regional localization of a large collection (2,000) of single-copy DNA fragments on human chromosome 3 for mapping and cloning tumor suppressor genes. Hum Genet (1991) 12.52
Mutations of the VHL tumour suppressor gene in renal carcinoma. Nat Genet (1994) 10.14
Silencing of the VHL tumor-suppressor gene by DNA methylation in renal carcinoma. Proc Natl Acad Sci U S A (1994) 8.47
Cyclosporine in severe ulcerative colitis refractory to steroid therapy. N Engl J Med (1994) 6.05
Gait speed at usual pace as a predictor of adverse outcomes in community-dwelling older people an International Academy on Nutrition and Aging (IANA) Task Force. J Nutr Health Aging (2009) 5.98
Hypoxia inducible factor-alpha binding and ubiquitylation by the von Hippel-Lindau tumor suppressor protein. J Biol Chem (2000) 5.58
Paediatric index of mortality (PIM): a mortality prediction model for children in intensive care. Intensive Care Med (1997) 5.36
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet (2001) 4.71
Epigenetic inactivation of RASSF1A in lung and breast cancers and malignant phenotype suppression. J Natl Cancer Inst (2001) 4.14
Frequent somatic mutations and loss of heterozygosity of the von Hippel-Lindau tumor suppressor gene in primary human renal cell carcinomas. Cancer Res (1994) 3.62
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. Proc Natl Acad Sci U S A (1999) 3.37
Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol (2013) 3.28
Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet (1994) 3.04
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat (1996) 2.80
Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening. J Med Genet (2006) 2.68
Interpreting DNA fingerprint clusters of Mycobacterium tuberculosis. European Concerted Action on Molecular Epidemiology and Control of Tuberculosis. Int J Tuberc Lung Dis (1999) 2.66
Molecular cloning of the von Hippel-Lindau tumor suppressor gene and its role in renal carcinoma. Biochim Biophys Acta (1996) 2.64
Contrasting effects on HIF-1alpha regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease. Hum Mol Genet (2001) 2.56
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet (1994) 2.52
Beckwith-Wiedemann syndrome and assisted reproduction technology (ART). J Med Genet (2003) 2.48
Germline E-cadherin gene (CDH1) mutations predispose to familial gastric cancer and colorectal cancer. Hum Mol Genet (1999) 2.41
CD10 is a sensitive and diagnostically useful immunohistochemical marker of normal endometrial stroma and of endometrial stromal neoplasms. Histopathology (2001) 2.41
Familial gastric cancer: overview and guidelines for management. J Med Genet (1999) 2.38
Dermcidin: a novel human antibiotic peptide secreted by sweat glands. Nat Immunol (2001) 2.29
Inactivation of the von Hippel-Lindau (VHL) tumour suppressor gene and allelic losses at chromosome arm 3p in primary renal cell carcinoma: evidence for a VHL-independent pathway in clear cell renal tumourigenesis. Genes Chromosomes Cancer (1998) 2.27
Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain. Hum Mol Genet (1995) 2.27
Risk of Mycobacterium tuberculosis transmission in a low-incidence country due to immigration from high-incidence areas. J Clin Microbiol (2001) 2.24
Methylation associated inactivation of RASSF1A from region 3p21.3 in lung, breast and ovarian tumours. Oncogene (2001) 2.22
Fusion of SYT to two genes, SSX1 and SSX2, encoding proteins with homology to the Kruppel-associated box in human synovial sarcoma. EMBO J (1995) 2.14
Constitutive activation of hypoxia-inducible genes related to overexpression of hypoxia-inducible factor-1alpha in clear cell renal carcinomas. Cancer Res (2001) 2.12
Myopic children show insufficient accommodative response to blur. Invest Ophthalmol Vis Sci (1993) 2.08
Recombinant human B cell stimulatory factor 2 (BSF-2/IFN-beta 2) regulates beta-fibrinogen and albumin mRNA levels in Fao-9 cells. FEBS Lett (1987) 2.04
Imprinting in clusters: lessons from Beckwith-Wiedemann syndrome. Trends Genet (1997) 2.01
Frequent 3p allele loss and epigenetic inactivation of the RASSF1A tumour suppressor gene from region 3p21.3 in head and neck squamous cell carcinoma. Eur J Cancer (2002) 1.95
The VHL tumour-suppressor gene paradigm. Trends Genet (1998) 1.94
T- and B-cell responses to myelin oligodendrocyte glycoprotein in experimental autoimmune encephalomyelitis and multiple sclerosis. Glia (2001) 1.91
Evaluation of the 3p21.3 tumour-suppressor gene cluster. Oncogene (2007) 1.86
Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol (2011) 1.85
B lymphocytes producing demyelinating autoantibodies: development and function in gene-targeted transgenic mice. J Exp Med (1998) 1.85
Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. JAMA (1995) 1.83
Identification of the promoter of the human von Hippel-Lindau disease tumor suppressor gene. Oncogene (1995) 1.82
Frequent loss of PTEN expression is linked to elevated phosphorylated Akt levels, but not associated with p27 and cyclin D1 expression, in primary epithelial ovarian carcinomas. Am J Pathol (2001) 1.82
IS1245 restriction fragment length polymorphism typing of Mycobacterium avium isolates: proposal for standardization. J Clin Microbiol (1998) 1.80
The genetics of paragangliomas: a review. Clin Otolaryngol (2007) 1.77
Effects of cytokines on the liver. Hepatology (1991) 1.76
Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. J Med Genet (1999) 1.74
Genome-wide methylation analysis identifies epigenetically inactivated candidate tumour suppressor genes in renal cell carcinoma. Oncogene (2010) 1.69
Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome. J Med Genet (2003) 1.68
Predictors of MCAT scores for black Americans. J Natl Med Assoc (1987) 1.68
Early symptoms of bone and soft tissue sarcomas: could they be diagnosed earlier? Ann R Coll Surg Engl (2012) 1.67
Beckwith-Wiedemann syndrome. J Med Genet (1994) 1.67
Transverse-momentum and pseudorapidity distributions of charged hadrons in pp collisions at square root of s = 7 TeV. Phys Rev Lett (2010) 1.67
Ifosfamide-containing chemotherapy in Ewing's sarcoma: The Second United Kingdom Children's Cancer Study Group and the Medical Research Council Ewing's Tumor Study. J Clin Oncol (1998) 1.66
The dermatoscopic pattern of clear-cell acanthoma resembles psoriasis vulgaris. Dermatology (2001) 1.66
On the association between valproate and polycystic ovary syndrome. Epilepsia (2001) 1.65
Cleavage of zearalenone-glycoside, a "masked" mycotoxin, during digestion in swine. Zentralbl Veterinarmed B (1990) 1.64
Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Arch Ophthalmol (1999) 1.64
Germline SDHD mutation in familial phaeochromocytoma. Lancet (2001) 1.62
Oligodendrocyte apoptosis and primary demyelination induced by local TNF/p55TNF receptor signaling in the central nervous system of transgenic mice: models for multiple sclerosis with primary oligodendrogliopathy. Am J Pathol (1998) 1.62
A genetic register for von Hippel-Lindau disease. J Med Genet (1996) 1.61
Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN). Neurology (2008) 1.60
Chondroblastoma of bone: long-term results and functional outcome after intralesional curettage. J Bone Joint Surg Br (2005) 1.58
Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation. Hum Mol Genet (1996) 1.57
A critical appraisal of endorectal ultrasound and transanal endoscopic microsurgery and decision-making in early rectal cancer. Colorectal Dis (2012) 1.57
Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway. Hum Mol Genet (1996) 1.57
Distinct hypermethylation patterns occur at altered chromosome loci in human lung and colon cancer. Proc Natl Acad Sci U S A (1992) 1.56
Erythrocyte K-Cl cotransport: properties and regulation. Am J Physiol (1992) 1.56
The clinical features and natural history of the Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy). Neurology (1986) 1.55
Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome. Hum Mol Genet (1997) 1.54
Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors. Am J Hum Genet (1997) 1.54
Identification of candidate tumour suppressor genes frequently methylated in renal cell carcinoma. Oncogene (2010) 1.52
The neuropeptide substance P activates transcription factor NF-kappa B and kappa B-dependent gene expression in human astrocytoma cells. J Immunol (1997) 1.52
Molecular and cellular characterization of human renal cell carcinoma cell lines. Cancer Res (1992) 1.52
Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. J Med Genet (2000) 1.51
Molecular genetic tests in surgical management of familial adenomatous polyposis. Lancet (1997) 1.50
Recurrent germline mutation in MSH2 arises frequently de novo. J Med Genet (2000) 1.49
Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5. Hum Mol Genet (1998) 1.49
Assisted reproductive therapies and imprinting disorders--a preliminary British survey. Hum Reprod (2005) 1.48
RASSF6 is a novel member of the RASSF family of tumor suppressors. Oncogene (2007) 1.48
The pattern of protein synthesis induced by heat shock of HeLa cells. Eur J Biochem (1981) 1.48
Hindquarter amputation: is it still needed and what are the outcomes? Bone Joint J (2013) 1.48
Human semaphorins A(V) and IV reside in the 3p21.3 small cell lung cancer deletion region and demonstrate distinct expression patterns. Proc Natl Acad Sci U S A (1996) 1.48
Multidimensional assessment of personality in patients with psychogenic non-epileptic seizures. J Neurol Neurosurg Psychiatry (2004) 1.48
Characterization of the family of dimers associated with Fc receptors (Fc epsilon RI and Fc gamma RIII). J Immunol (1991) 1.48
TNFR1 signalling is critical for the development of demyelination and the limitation of T-cell responses during immune-mediated CNS disease. Brain (2000) 1.47
Diagnostic delay in psychogenic nonepileptic seizures. Neurology (2002) 1.45