Published in Hum Genet on May 01, 1995
von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet (2011) 2.45
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations. J Med Genet (1996) 1.76
Somatic inactivation of the VHL gene in Von Hippel-Lindau disease tumors. Am J Hum Genet (1997) 1.54
Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma. J Med Genet (1995) 1.26
Software and database for the analysis of mutations in the VHL gene. Nucleic Acids Res (1998) 1.12
Chapter 4: Protein interactions and disease. PLoS Comput Biol (2012) 1.10
An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects. Am J Hum Genet (1998) 1.07
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. J Clin Endocrinol Metab (2009) 1.04
VHL c.505 T>C mutation confers a high age related penetrance but no increased overall mortality. J Med Genet (2001) 1.01
The von Hippel-Lindau gene: turning discovery into therapy. Cancer (2008) 0.97
The molecular basis of von Hippel-Lindau disease. Mol Med (1997) 0.95
Identification of 3 novel VHL germ-line mutations in Danish VHL patients. BMC Med Genet (2012) 0.93
Complex cellular functions of the von Hippel-Lindau tumor suppressor gene: insights from model organisms. Oncogene (2011) 0.92
Familial clear cell renal cell carcinoma (FCRC): clinical features and mutation analysis of the VHL, MET, and CUL2 candidate genes. J Med Genet (2000) 0.89
Von Hippel-Lindau disease. Handb Clin Neurol (2015) 0.89
Genotype-phenotype correlation in von Hippel-Lindau disease: identification of a mutation associated with VHL type 2A. J Med Genet (1996) 0.87
Differences in regulation of tight junctions and cell morphology between VHL mutations from disease subtypes. BMC Cancer (2009) 0.87
Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only. J Med Genet (2000) 0.83
Mitochondrial and nuclear genes of mitochondrial components in cancer. Curr Genomics (2009) 0.82
Hereditary kidney cancer syndromes. Adv Chronic Kidney Dis (2014) 0.82
Genotype-phenotype correlations of pheochromocytoma in two large von Hippel-Lindau (VHL) type 2A kindreds with different missense mutations. Am J Med Genet A (2011) 0.80
A novel missense mutation (N78D) in a family with von Hippel-Lindau disease with central nervous system haemangioblastomas, pancreatic and renal cysts. Fam Cancer (2013) 0.78
Von Hippel-Lindau Disease. J Pediatr Genet (2016) 0.78
Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. Cancer Res (2014) 0.77
[Von Hippel-Lindau disease. Interdisciplinary patient care]. Ophthalmologe (2007) 0.75
Clinical utility gene card for: von Hippel-Lindau (VHL). Eur J Hum Genet (2013) 0.75
From arterial hypertension complications to von Hippel-Lindau syndrome diagnosis. Ital J Pediatr (2015) 0.75
Detection of germline mutations in the von Hippel-Lindau disease gene by the primer specified restriction map modification method. J Med Genet (1995) 0.75
Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark. Eur J Hum Genet (2016) 0.75
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
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
PSORTb v.2.0: expanded prediction of bacterial protein subcellular localization and insights gained from comparative proteome analysis. Bioinformatics (2004) 7.15
Characterization and chromosomal localization of a cDNA encoding brain amyloid of Alzheimer's disease. Science (1987) 6.89
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomas. Nat Genet (1997) 6.83
Formation of neurofibrillary tangles in P301l tau transgenic mice induced by Abeta 42 fibrils. Science (2001) 6.17
The Heidelberg classification of renal cell tumours. J Pathol (1997) 5.36
Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes. Am J Hum Genet (1998) 5.24
Human monocyte chemoattractant protein-1 (MCP-1). Full-length cDNA cloning, expression in mitogen-stimulated blood mononuclear leukocytes, and sequence similarity to mouse competence gene JE. FEBS Lett (1989) 4.75
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet (2001) 4.71
Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing. Nature (2000) 4.68
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature (2010) 4.52
E-cadherin gene mutations provide clues to diffuse type gastric carcinomas. Cancer Res (1994) 4.51
The genome sequence of Bifidobacterium longum subsp. infantis reveals adaptations for milk utilization within the infant microbiome. Proc Natl Acad Sci U S A (2008) 4.45
Mechanisms and rates of decay of marine viruses in seawater. Appl Environ Microbiol (1992) 4.22
Quantitative gene expression analysis in microdissected archival formalin-fixed and paraffin-embedded tumor tissue. Am J Pathol (2001) 4.18
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
Loss of alleles of loci on the short arm of chromosome 3 in renal cell carcinoma. Nature (1987) 3.46
Good clinical outcomes following transjugular intrahepatic portosystemic stent-shunts in Budd-Chiari syndrome. Aliment Pharmacol Ther (2014) 3.39
Signals transduced by Ca(2+)/calcineurin and NFATc3/c4 pattern the developing vasculature. Cell (2001) 3.37
Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. Arch Dermatol (1999) 3.14
Quality assurance in immunohistochemistry: results of an interlaboratory trial involving 172 pathologists. Am J Surg Pathol (2002) 3.05
Novel mutations of the MET proto-oncogene in papillary renal carcinomas. Oncogene (1999) 3.01
Candidate tumor suppressor HYAL2 is a glycosylphosphatidylinositol (GPI)-anchored cell-surface receptor for jaagsiekte sheep retrovirus, the envelope protein of which mediates oncogenic transformation. Proc Natl Acad Sci U S A (2001) 2.94
Activating mutations for the met tyrosine kinase receptor in human cancer. Proc Natl Acad Sci U S A (1997) 2.92
Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat (1995) 2.91
Expression of hypoxia-inducible cell-surface transmembrane carbonic anhydrases in human cancer. Am J Pathol (2001) 2.86
Mutations of the human E-cadherin (CDH1) gene. Hum Mutat (1998) 2.84
Comparison of Western immunoblots and gene detection assays for identification of potentially enterotoxigenic isolates of Clostridium perfringens. J Clin Microbiol (1994) 2.81
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat (1996) 2.80
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. Hum Mutat (2003) 2.75
HER2 diagnostics in gastric cancer-guideline validation and development of standardized immunohistochemical testing. Virchows Arch (2010) 2.72
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. Am J Hum Genet (2001) 2.68
Molecular cloning of the von Hippel-Lindau tumor suppressor gene and its role in renal carcinoma. Biochim Biophys Acta (1996) 2.64
Improved detection of germline mutations in the von Hippel-Lindau disease tumor suppressor gene. Hum Mutat (1998) 2.64
Loss of connectivity in Alzheimer's disease: an evaluation of white matter tract integrity with colour coded MR diffusion tensor imaging. J Neurol Neurosurg Psychiatry (2000) 2.55
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet (1994) 2.52
Trisomy 7-harbouring non-random duplication of the mutant MET allele in hereditary papillary renal carcinomas. Nat Genet (1998) 2.50
Biopsy surveillance is still necessary in patients with Barrett's oesophagus despite new endoscopic imaging techniques. Gut (2003) 2.49
Identification of the von Hippel-Lindau (VHL) gene. Its role in renal cancer. JAMA (1995) 2.43
Tau filament formation in transgenic mice expressing P301L tau. J Biol Chem (2001) 2.40
von Hippel-Lindau disease: genetic, clinical, and imaging features. Radiology (1995) 2.38
Retrovirus packaging cells based on 10A1 murine leukemia virus for production of vectors that use multiple receptors for cell entry. J Virol (1996) 2.36
A novel germ line juxtamembrane Met mutation in human gastric cancer. Oncogene (2000) 2.35
The small heat shock protein alpha B-crystallin negatively regulates cytochrome c- and caspase-8-dependent activation of caspase-3 by inhibiting its autoproteolytic maturation. J Biol Chem (2001) 2.25
Downregulation of caffeic acid 3-O-methyltransferase and caffeoyl CoA 3-O-methyltransferase in transgenic alfalfa. impacts on lignin structure and implications for the biosynthesis of G and S lignin. Plant Cell (2001) 2.23
Methylation associated inactivation of RASSF1A from region 3p21.3 in lung, breast and ovarian tumours. Oncogene (2001) 2.22
Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipomas. Genes Chromosomes Cancer (1995) 2.20
Down-regulation of transmembrane carbonic anhydrases in renal cell carcinoma cell lines by wild-type von Hippel-Lindau transgenes. Proc Natl Acad Sci U S A (1998) 2.20
Nodeless superconducting gap in A(x)Fe2Se2 (A=K,Cs) revealed by angle-resolved photoemission spectroscopy. Nat Mater (2011) 2.16
NFAT signaling in vertebrate development. Curr Opin Genet Dev (2001) 2.15
Inhibition of RNA polymerase II as a trigger for the p53 response. Oncogene (1999) 2.14
BCG and cancer (first of two parts). N Engl J Med (1974) 2.13
Informatics and medicine--from molecules to populations. Methods Inf Med (2008) 2.13
Induction of pulmonary indoleamine 2,3-dioxygenase by interferon. Proc Natl Acad Sci U S A (1981) 2.10
Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol (2015) 2.07
Acquired cellular immunity: extracellular killing of Listeria monocytogenes by a product of immunologically activated macrophages. Cell Immunol (1974) 2.07
The human acid ceramidase gene (ASAH): structure, chromosomal location, mutation analysis, and expression. Genomics (1999) 2.04
Neural crest expression of Cre recombinase directed by the proximal Pax3 promoter in transgenic mice. Genesis (2000) 2.04
Suppression of tumor growth at the site of infection with living Bacillus Calmette-Guérin. J Natl Cancer Inst (1971) 2.04
Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex. Nat Med (1999) 2.03
Homology between the KpnI primate and BamH1 (M1F-1) rodent families of long interspersed repeated sequences. Nucleic Acids Res (1983) 2.03
Endothelial cell laminin isoforms, laminins 8 and 10, play decisive roles in T cell recruitment across the blood-brain barrier in experimental autoimmune encephalomyelitis. J Cell Biol (2001) 1.98
Urokinase (uPA) and its inhibitor PAI-1 are strong and independent prognostic factors in node-negative breast cancer. Breast Cancer Res Treat (1993) 1.97
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
Kpn I family of long interspersed repeated DNA sequences in primates: polymorphism of family members and evidence for transcription. Proc Natl Acad Sci U S A (1983) 1.94
Revised classification of neuroendocrine tumours of the lung, pancreas and gut. Virchows Arch (1995) 1.91
Cellular proteins that bind the von Hippel-Lindau disease gene product: mapping of binding domains and the effect of missense mutations. Cancer Res (1995) 1.91
Distribution, isolation, host specificity, and diversity of cyanophages infecting marine Synechococcus spp. in river estuaries. Appl Environ Microbiol (2001) 1.90
Caspase cleavage of vimentin disrupts intermediate filaments and promotes apoptosis. Cell Death Differ (2001) 1.87