Published in Cancer Res on March 01, 2002
Splicing in action: assessing disease causing sequence changes. J Med Genet (2005) 3.07
Influence of RNA secondary structure on the pre-mRNA splicing process. Mol Cell Biol (2004) 3.07
Emerging roles of BRCA1 alternative splicing. Mol Pathol (2003) 1.41
Neurofibromin 1 (NF1) defects are common in human ovarian serous carcinomas and co-occur with TP53 mutations. Neoplasia (2008) 1.08
Evidence for widespread association of mammalian splicing and conserved long-range RNA structures. RNA (2011) 0.95
Complex splicing pattern generates great diversity in human NF1 transcripts. BMC Genomics (2002) 0.91
Identification of a human TFPI-2 splice variant that is upregulated in human tumor tissues. Mol Cancer (2007) 0.83
Aberrant Single Exon Skipping is not Altered by Age in Exons of NF1, RABAC1, AATF or PCGF2 in Human Blood Cells and Fibroblasts. Genes (Basel) (2011) 0.80
Cyclic stretch increases splicing noise rate in cultured human fibroblasts. BMC Res Notes (2011) 0.75
Identification of seven new prostate cancer susceptibility loci through a genome-wide association study. Nat Genet (2009) 6.04
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. Nat Genet (2013) 5.58
Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study. Nat Genet (2011) 3.07
Proteasomal and genetic inactivation of the NF1 tumor suppressor in gliomagenesis. Cancer Cell (2009) 2.73
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet (2007) 2.55
HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG). Hum Genet (2012) 2.18
Conservation of hotspots for recombination in low-copy repeats associated with the NF1 microdeletion. Nat Genet (2006) 2.11
A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics. Am J Hum Genet (2005) 1.96
NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome. Cell (2010) 1.81
Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression. Hum Mol Genet (2013) 1.78
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria. Am J Med Genet A (2013) 1.72
Pooled genome linkage scan of aggressive prostate cancer: results from the International Consortium for Prostate Cancer Genetics. Hum Genet (2006) 1.70
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70
Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients. Hum Mol Genet (2006) 1.68
Modulation of steady-state kinetics of digoxin by haplotypes of the P-glycoprotein MDR1 gene. Clin Pharmacol Ther (2002) 1.58
Elucidating distinct roles for NF1 in melanomagenesis. Cancer Discov (2012) 1.53
Neurofibromatosis type 1 protein and amyloid precursor protein interact in normal human melanocytes and colocalize with melanosomes. J Invest Dermatol (2006) 1.53
A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease. Hum Mol Genet (2012) 1.47
Wide genome comparisons reveal the origins of the human X chromosome. Trends Genet (2004) 1.39
Increased noise as an effect of haploinsufficiency of the tumor-suppressor gene neurofibromatosis type 1 in vitro. Proc Natl Acad Sci U S A (2002) 1.36
Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. Hum Mutat (2004) 1.35
Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet (2007) 1.33
Comprehensive NF1 screening on cultured Schwann cells from neurofibromas. Hum Mutat (2006) 1.29
Reconstruction of a 450-My-old ancestral vertebrate protokaryotype. Trends Genet (2006) 1.29
Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2. Genes Chromosomes Cancer (2003) 1.26
Bax expression is a candidate prognostic and predictive marker of colorectal cancer. J Gastrointest Oncol (2010) 1.24
The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion. PLoS Genet (2011) 1.23
Association of the P-glycoprotein transporter MDR1(C3435T) polymorphism with the susceptibility to renal epithelial tumors. J Am Soc Nephrol (2002) 1.21
Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. Am J Med Genet A (2005) 1.19
Review and update of SPRED1 mutations causing Legius syndrome. Hum Mutat (2012) 1.13
A genomewide linkage analysis for prostate cancer susceptibility genes in families from Germany. Eur J Hum Genet (2005) 1.12
Linkage of aggressive prostate cancer to chromosome 7q31-33 in German prostate cancer families. Eur J Hum Genet (2003) 1.09
POU5F1P1, a putative cancer susceptibility gene, is overexpressed in prostatic carcinoma. Prostate (2010) 1.06
In NF1, CFTR, PER3, CARS and SYT7, alternatively included exons show higher conservation of surrounding intron sequences than constitutive exons. Eur J Hum Genet (2004) 1.06
Predisposition for TMPRSS2-ERG fusion in prostate cancer by variants in DNA repair genes. Cancer Epidemiol Biomarkers Prev (2009) 1.05
The development of cutaneous neurofibromas. Am J Pathol (2011) 1.04
Pigment cell-related manifestations in neurofibromatosis type 1: an overview. Pigment Cell Res (2005) 1.01
Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association. Cancer Res (2009) 1.01
Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5' end of the BRCA1 gene. Oncogene (2002) 0.99
On the difference of micronucleus frequencies in peripheral blood lymphocytes between breast cancer patients and controls. Mutagenesis (2006) 0.98
Somatic loss of wild type NF1 allele in neurofibromas: Comparison of NF1 microdeletion and non-microdeletion patients. Genes Chromosomes Cancer (2006) 0.97
Somatic mutation analysis in NF1 café au lait spots reveals two NF1 hits in the melanocytes. J Invest Dermatol (2007) 0.96
An automated scoring procedure for the micronucleus test by image analysis. Mutagenesis (2004) 0.95
Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction. Genet Test Mol Biomarkers (2010) 0.94
Germline mutations of the MSR1 gene in prostate cancer families from Germany. Hum Mutat (2006) 0.94
Radiation-induced rhabdomyosarcoma of the brainstem in a patient with neurofibromatosis type 2. J Neurosurg (2010) 0.94
Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease. Hum Genet (2013) 0.93
Matrix-dependent regulation of AKT in Hepsin-overexpressing PC3 prostate cancer cells. Neoplasia (2011) 0.93
Heritability of baseline and induced micronucleus frequencies. Mutagenesis (2011) 0.92
Genetic variability in a genomic region with long-range linkage disequilibrium reveals traces of a bottleneck in the history of the European population. Hum Genet (2005) 0.91
Complex splicing pattern generates great diversity in human NF1 transcripts. BMC Genomics (2002) 0.91
The human FOXL2 mutation database. Hum Mutat (2004) 0.91
The N-terminal splice product NF1-10a-2 of the NF1 gene codes for a transmembrane segment. Biochem Biophys Res Commun (2002) 0.91
Congenital pseudarthrosis of neurofibromatosis type 1: impaired osteoblast differentiation and function and altered NF1 gene expression. Bone (2008) 0.90
Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind? Arch Dermatol Res (2006) 0.90
Mutation screen and association study of EZH2 as a susceptibility gene for aggressive prostate cancer. Prostate (2005) 0.90
Quantification of NF1 transcripts reveals novel highly expressed splice variants. FEBS Lett (2002) 0.89
Targeted gene correction of hprt mutations by 45 base single-stranded oligonucleotides. Biochem Biophys Res Commun (2002) 0.88
Expression changes of CAV1 and EZH2, located on 7q31 approximately q36, are rarely related to genomic alterations in primary prostate carcinoma. Cancer Genet Cytogenet (2008) 0.88
Role of the Nijmegen breakage syndrome 1 gene in familial and sporadic prostate cancer. Cancer Epidemiol Biomarkers Prev (2006) 0.88
An interstitial deletion of chromosome 7 at band q21: a case report and review. Am J Med Genet A (2005) 0.87
Genetic and clinical mosaicism in a patient with neurofibromatosis type 1. Hum Genet (2003) 0.87
Neurofibromin binds to caveolin-1 and regulates ras, FAK, and Akt. Biochem Biophys Res Commun (2006) 0.87
A patient severely affected by spinal neurofibromas carries a recurrent splice site mutation in the NF1 gene. Eur J Hum Genet (2002) 0.85
An isochore transition zone in the NF1 gene region is a conserved landmark of chromosome structure and function. Genomics (2005) 0.85
Confirmation of the prostate cancer susceptibility locus HPCX in a set of 104 German prostate cancer families. Prostate (2002) 0.85
Real-time quantitative allele discrimination assay using 3' locked nucleic acid primers for detection of low-percentage mosaic mutations. Anal Biochem (2006) 0.85
Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR. Am J Med Genet A (2011) 0.84
Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2). Am J Med Genet A (2006) 0.84
Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2. Ophthalmic Genet (2008) 0.83
Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event. Hum Mutat (2010) 0.83
Neurofibromatosis 2011: a report of the Children's Tumor Foundation annual meeting. Acta Neuropathol (2011) 0.83
Enhanced sensitivity of peripheral blood lymphocytes from women carrying a BRCA1 mutation towards the mutagenic effects of various cytostatics. Mutat Res (2003) 0.82
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints. Genome Biol (2014) 0.82
Neurofibromin is actively transported to the nucleus. FEBS Lett (2004) 0.82
Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL. Genes Chromosomes Cancer (2012) 0.82
Phenotypic variability among café-au-lait macules in neurofibromatosis type 1. J Am Acad Dermatol (2010) 0.82
Clinical significance of a novel single nucleotide polymorphism in the 5' untranslated region of the Rabphillin-3A-Like gene in colorectal adenocarcinoma. Front Biosci (2008) 0.81
Kallmann syndrome in a patient with congenital spherocytosis and an interstitial 8p11.2 deletion. Am J Med Genet (2002) 0.81
The rate, not the spectrum, of base pair substitutions changes at a GC-content transition in the human NF1 gene region: implications for the evolution of the mammalian genome structure. Genetics (2006) 0.81
Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG. Prostate (2011) 0.81
Some tumors of the bladder are polyclonal in origin. J Urol (2002) 0.81
Role of a CYP17 promoter polymorphism for familial prostate cancer risk in Germany. Anticancer Res (2005) 0.81
Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies. Am J Med Genet A (2003) 0.81
Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene. Hum Mutat (2014) 0.80
Multiple orbital neurofibromas, painful peripheral nerve tumors, distinctive face and marfanoid habitus: a new syndrome. Eur J Hum Genet (2012) 0.79
Familial pericentric inversion of chromosome 18: behavioral abnormalities in patients heterozygous for either the dup(18p)/del(18q) or dup(18q)/del(18p) recombinant chromosome. Eur J Hum Genet (2005) 0.79
Genetic and environmental risk factors for submucous cleft palate. Eur J Oral Sci (2012) 0.79
Subgroups of familial and aggressive prostate cancer with considerable frequencies of BRCA2 mutations. Prostate (2014) 0.79
The prostate cancer risk locus at 10q11 is associated with DNA repair capacity. DNA Repair (Amst) (2012) 0.78
Simultaneous targeted exchange of two nucleotides by single-stranded oligonucleotides clusters within a region of about fourteen nucleotides. BMC Mol Biol (2008) 0.78
Scoring variability of micronuclei in binucleated human lymphocytes in a case-control study. Mutagenesis (2006) 0.78