Published in Melanoma Res on June 01, 2004
Activation of the MAPK pathway is a common event in uveal melanomas although it rarely occurs through mutation of BRAF or RAS. Br J Cancer (2005) 2.13
Oncogenic GNAQ mutations are not correlated with disease-free survival in uveal melanoma. Br J Cancer (2009) 1.93
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Understanding signaling cascades in melanoma. Photochem Photobiol (2007) 1.10
The protein kinase C inhibitor enzastaurin exhibits antitumor activity against uveal melanoma. PLoS One (2012) 1.09
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Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions. Nature (2008) 10.95
Distinct gene mutation profiles among luminal-type and basal-type breast cancer cell lines. Breast Cancer Res Treat (2009) 2.76
Dynamic assembly of end-joining complexes requires interaction between Ku70/80 and XRCC4. Proc Natl Acad Sci U S A (2006) 2.71
FGFR3 mutations indicate better survival in invasive upper urinary tract and bladder tumours. Eur Urol (2008) 2.65
Different types of V(D)J recombination and end-joining defects in DNA double-strand break repair mutant mammalian cells. Eur J Immunol (2002) 2.57
Markers predicting response to bacillus Calmette-Guérin immunotherapy in high-risk bladder cancer patients: a systematic review. Eur Urol (2011) 2.11
Expression of the endothelin axis in noninvasive and superficially invasive bladder cancer: relation to clinicopathologic and molecular prognostic parameters. Eur Urol (2008) 2.02
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Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J Clin Invest (2006) 1.78
Loci at chromosomes 13, 19 and 20 influence age at natural menopause. Nat Genet (2009) 1.72
FGFR3 mutations and a normal CK20 staining pattern define low-grade noninvasive urothelial bladder tumours. Eur Urol (2007) 1.72
Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders. Eur J Hum Genet (2002) 1.72
A simple and fast method for the simultaneous detection of nine fibroblast growth factor receptor 3 mutations in bladder cancer and voided urine. Clin Cancer Res (2005) 1.68
Variegated gene expression caused by cell-specific long-range DNA interactions. Nat Cell Biol (2011) 1.63
Peptide vaccination after T-cell transfer causes massive clonal expansion, tumor eradication, and manageable cytokine storm. Cancer Res (2010) 1.59
Molecular grading of urothelial cell carcinoma with fibroblast growth factor receptor 3 and MIB-1 is superior to pathologic grade for the prediction of clinical outcome. J Clin Oncol (2003) 1.58
Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula. Eur J Med Genet (2007) 1.55
Molecular grade (FGFR3/MIB-1) and EORTC risk scores are predictive in primary non-muscle-invasive bladder cancer. Eur Urol (2010) 1.54
The role of DNA dependent protein kinase in synapsis of DNA ends. Nucleic Acids Res (2003) 1.51
A noninvasive multi-analyte diagnostic assay: combining protein and DNA markers to stratify bladder cancer patients. Res Rep Urol (2012) 1.48
FGFR3 mutation analysis in voided urine samples to decrease cystoscopies and cost in nonmuscle invasive bladder cancer surveillance: a comparison of 3 strategies. J Urol (2012) 1.44
Reduced melanoma-related mortality in uveal melanoma by preenucleation radiotherapy. Arch Ophthalmol (2005) 1.41
Two multiplex assays that simultaneously identify 22 possible mutation sites in the KRAS, BRAF, NRAS and PIK3CA genes. PLoS One (2010) 1.41
Keratinocytic epidermal nevi are associated with mosaic RAS mutations. J Med Genet (2012) 1.40
FGFR3 and P53 characterize alternative genetic pathways in the pathogenesis of urothelial cell carcinoma. Cancer Res (2004) 1.38
The MN1 oncoprotein synergizes with coactivators RAC3 and p300 in RAR-RXR-mediated transcription. Oncogene (2003) 1.38
High frequency of FGFR3 mutations in adenoid seborrheic keratoses. J Invest Dermatol (2006) 1.37
Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories. Hum Mutat (2013) 1.32
Gene expression profiling in uveal melanoma: two regions on 3p related to prognosis. Invest Ophthalmol Vis Sci (2008) 1.32
A SNaPshot assay for the rapid and simple detection of four common hotspot codon mutations in the PIK3CA gene. BMC Res Notes (2009) 1.29
Long-term follow-up of endothelial cell change after Artisan phakic intraocular lens implantation. Ophthalmology (2007) 1.28
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Res (2012) 1.26
Genome-wide oligonucleotide-based array comparative genome hybridization analysis of non-isolated congenital diaphragmatic hernia. Hum Mol Genet (2007) 1.24
Mutation of the mouse Rad17 gene leads to embryonic lethality and reveals a role in DNA damage-dependent recombination. EMBO J (2004) 1.22
Frequent FGFR3 mutations in urothelial papilloma. J Pathol (2002) 1.21
KRAS and BRAF mutation analysis in routine molecular diagnostics: comparison of three testing methods on formalin-fixed, paraffin-embedded tumor-derived DNA. J Mol Diagn (2012) 1.19
Pyrophosphorolysis detects B-RAF mutations in primary uveal melanoma. Invest Ophthalmol Vis Sci (2008) 1.18
Fibroblast growth factor receptor 3 mutation analysis on voided urine for surveillance of patients with low-grade non-muscle-invasive bladder cancer. Clin Cancer Res (2010) 1.17
The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice. Development (2008) 1.16
Chromosome 3 intratumor heterogeneity in uveal melanoma. Invest Ophthalmol Vis Sci (2008) 1.15
Concurrent loss of chromosome arm 1p and chromosome 3 predicts a decreased disease-free survival in uveal melanoma patients. Invest Ophthalmol Vis Sci (2005) 1.14
Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples. Eur J Hum Genet (2008) 1.13
Clinical and cytogenetic analyses in uveal melanoma. Invest Ophthalmol Vis Sci (2006) 1.11
Combined microsatellite and FGFR3 mutation analysis enables a highly sensitive detection of urothelial cell carcinoma in voided urine. Clin Cancer Res (2003) 1.08
Clinical geneticists' views of VACTERL/VATER association. Am J Med Genet A (2012) 1.08
Patients' perceived burden of cystoscopic and urinary surveillance of bladder cancer: a randomized comparison. BJU Int (2007) 1.08
Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap". Curr Gastroenterol Rep (2010) 1.07
Mesenchymal stem cells derived from adipose tissue are not affected by renal disease. Kidney Int (2012) 1.07
Fibroblast growth factor receptor 3 mutations in bladder tumors correlate with low frequency of chromosome alterations. Neoplasia (2008) 1.06
Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet (2011) 1.05
DNA methylation-based biomarkers in bladder cancer. Nat Rev Urol (2013) 1.05
The FGFR3 mutation is related to favorable pT1 bladder cancer. J Urol (2011) 1.03
Mouse model reveals the role of SOX7 in the development of congenital diaphragmatic hernia associated with recurrent deletions of 8p23.1. Hum Mol Genet (2012) 1.02
The development of multiple bladder tumour recurrences in relation to the FGFR3 mutation status of the primary tumour. J Pathol (2009) 1.00
A methylation assay for the detection of non-muscle-invasive bladder cancer (NMIBC) recurrences in voided urine. BJU Int (2011) 1.00
Bladder cancer biomarkers and their role in surveillance and screening. Int J Urol (2009) 1.00
A 3-plex methylation assay combined with the FGFR3 mutation assay sensitively detects recurrent bladder cancer in voided urine. Clin Cancer Res (2013) 0.99
Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton. Mol Cell Biol (2005) 0.98
Genome-wide analysis of CpG island methylation in bladder cancer identified TBX2, TBX3, GATA2, and ZIC4 as pTa-specific prognostic markers. Eur Urol (2012) 0.98
Regional deletion and amplification on chromosome 6 in a uveal melanoma case without abnormalities on chromosomes 1p, 3 and 8. Melanoma Res (2008) 0.96
Chromosome 9 deletions are more frequent than FGFR3 mutations in flat urothelial hyperplasias of the bladder. Int J Cancer (2006) 0.96
Retinol status of newborn infants is associated with congenital diaphragmatic hernia. Pediatrics (2010) 0.95
Higher percentage of FISH-determined monosomy 3 and 8q amplification in uveal melanoma cells relate to poor patient prognosis. Invest Ophthalmol Vis Sci (2012) 0.95
5q11.2 deletion in a patient with tracheal agenesis. Eur J Hum Genet (2010) 0.93
Deletion of exons 1a-2 of BRCA1: a rather frequent pathogenic abnormality. Genet Test Mol Biomarkers (2009) 0.93
A new system for substaging pT1 papillary bladder cancer: a prognostic evaluation. Hum Pathol (2005) 0.93
Agenesis of the trachea: phenotypic expression of a rare cause of fatal neonatal respiratory insufficiency in six patients. Int J Pediatr Otorhinolaryngol (2005) 0.93
Linking animal models to human congenital diaphragmatic hernia. Birth Defects Res A Clin Mol Teratol (2007) 0.92
Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice. Hum Mol Genet (2012) 0.92
The MN1 oncoprotein activates transcription of the IGFBP5 promoter through a CACCC-rich consensus sequence. J Mol Endocrinol (2007) 0.92
Clinical and genetic analysis of patients with Saethre-Chotzen syndrome. Plast Reconstr Surg (2005) 0.91
Prognostic value of molecular markers, sub-stage and European Organisation for the Research and Treatment of Cancer risk scores in primary T1 bladder cancer. BJU Int (2012) 0.91
Optimization of nonmuscle invasive bladder cancer recurrence detection using a urine based FGFR3 mutation assay. J Urol (2011) 0.91
Culture expansion induces non-tumorigenic aneuploidy in adipose tissue-derived mesenchymal stromal cells. Cytotherapy (2013) 0.91
Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies. Mol Cytogenet (2010) 0.91
Detection of genetic prognostic markers in uveal melanoma biopsies using fluorescence in situ hybridization. Clin Cancer Res (2002) 0.91
Meningioma 1 is required for appropriate osteoblast proliferation, motility, differentiation, and function. J Biol Chem (2009) 0.90
Improved molecular diagnostics of idiopathic short stature and allied disorders: quantitative polymerase chain reaction-based copy number profiling of SHOX and pseudoautosomal region 1. J Clin Endocrinol Metab (2010) 0.90
A familial inverted duplication 2q33-q34 identified and delineated by multiple cytogenetic techniques. Eur J Med Genet (2006) 0.90
Hypermethylation of the polycomb group target gene PCDH7 in bladder tumors from patients of all ages. J Urol (2013) 0.89
Overexpression of full-length ETV1 transcripts in clinical prostate cancer due to gene translocation. PLoS One (2011) 0.89
FGFR3 mutations in seborrheic keratoses are already present in flat lesions and associated with age and localization. Mod Pathol (2007) 0.88
Chemokine receptor CCR7 expression predicts poor outcome in uveal melanoma and relates to liver metastasis whereas expression of CXCR4 is not of clinical relevance. Invest Ophthalmol Vis Sci (2013) 0.87
The use of molecular analyses in voided urine for the assessment of patients with hematuria. PLoS One (2013) 0.86
MN1 affects expression of genes involved in hematopoiesis and can enhance as well as inhibit RAR/RXR-induced gene expression. Carcinogenesis (2008) 0.86
Cellular radiosensitivity of primary and metastatic human uveal melanoma cell lines. Invest Ophthalmol Vis Sci (2002) 0.86
Pulmonary vascular development goes awry in congenital lung abnormalities. Birth Defects Res C Embryo Today (2014) 0.85
Detection of urothelial bladder cancer cells in voided urine can be improved by a combination of cytology and standardized microsatellite analysis. Cancer Epidemiol Biomarkers Prev (2009) 0.85
Sexual function of patients under surveillance for bladder cancer. BJU Int (2009) 0.84
Multiplex ligation-dependent probe amplification equals fluorescence in-situ hybridization for the identification of patients at risk for metastatic disease in uveal melanoma. Melanoma Res (2012) 0.84
A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus. J Med Genet (2013) 0.84