12p-amplicon structure analysis in testicular germ cell tumors of adolescents and adults by array CGH. |
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Acquired mutations in TET2 are common in myelodysplastic syndromes |
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BTG1 regulates glucocorticoid receptor autoinduction in acute lymphoblastic leukemia |
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The cancer-related protein SSX2 interacts with the human homologue of a Ras-like GTPase interactor, RAB3IP, and a novel nuclear protein, SSX2IP |
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CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation |
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Chromosomal breakpoint mapping by arrayCGH using flow-sorted chromosomes |
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Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. |
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Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies |
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Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH |
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Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification |
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Disruption of a novel MFS transporter gene, DIRC2, by a familial renal cell carcinoma-associated t(2;3)(q35;q21). |
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EPCAM deletion carriers constitute a unique subgroup of Lynch syndrome patients |
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The (epi)genetics of human synovial sarcoma |
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Epigenetics, an update |
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The epigenetics of (hereditary) colorectal cancer |
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Fusion of the SUMO/Sentrin-specific protease 1 gene SENP1 and the embryonic polarity-related mesoderm development gene MESDC2 in a patient with an infantile teratoma and a constitutional t(12;15)(q13;q25). |
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Genome-wide array-based comparative genomic hybridization reveals multiple amplification targets and novel homozygous deletions in pancreatic carcinoma cell lines |
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Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis |
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Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene |
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Genomic microarrays in mental retardation: a practical workflow for diagnostic applications |
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Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map |
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Germ cell tumours in neonates and infants: a distinct subgroup? |
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A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer |
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Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. |
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High-resolution DNA copy number and gene expression analyses distinguish chromophobe renal cell carcinomas and renal oncocytomas |
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Histone deacetylase inhibitors reverse SS18-SSX-mediated polycomb silencing of the tumor suppressor early growth response 1 in synovial sarcoma |
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Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1. |
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Homozygosity mapping in outbred families with mental retardation |
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Identification of androgen-responsive genes that are alternatively regulated in androgen-dependent and androgen-independent rat prostate tumors |
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Identification of candidate predisposing copy number variants in familial and early-onset colorectal cancer patients |
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Identification of disease genes by whole genome CGH arrays |
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Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches. |
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Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling |
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Large scale genome variation in health and disease |
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Loss of a small region around the PTEN locus is a major chromosome 10 alteration in prostate cancer xenografts and cell lines |
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Mapping of constitutional translocation breakpoints in renal cell cancer patients: identification of KCNIP4 as a candidate gene |
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Microarray analyses reveal strong influence of DNA copy number alterations on the transcriptional patterns in pancreatic cancer: implications for the interpretation of genomic amplifications |
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The mitotic arrest deficient protein MAD2B interacts with the small GTPase RAN throughout the cell cycle |
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Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation |
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Molecular cytogenetic analysis of clustered sporadic and familial renal cell carcinoma-associated 3q13 approximately q22 breakpoints |
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A molecular inversion probe-based next-generation sequencing panel to detect germline mutations in Chinese early-onset colorectal cancer patients |
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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome |
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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. |
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Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma |
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The origin and nature of tightly clustered BTG1 deletions in precursor B-cell acute lymphoblastic leukemia support a model of multiclonal evolution |
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Over tumorgenen en (geen) tumoren |
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Perivascular epithelioid cell tumor of gastrointestinal tract: case report and review of the literature |
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Predictors and risk model development for menopausal age in fragile X premutation carriers |
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Prevalence of germline mutations in the spindle assembly checkpoint gene BUB1B in individuals with early-onset colorectal cancer |
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Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture |
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Recurrent CNVs disrupt three candidate genes in schizophrenia patients |
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Regulation of the MiTF/TFE bHLH-LZ transcription factors through restricted spatial expression and alternative splicing of functional domains |
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The renal cell carcinoma-associated oncogenic fusion protein PRCCTFE3 provokes p21 WAF1/CIP1-mediated cell cycle delay |
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Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study |
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Role of gain of 12p in germ cell tumour development |
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The role of the Philadelphia translocation in chronic myeloid leukemia |
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Understanding familial and non-familial renal cell cancer |
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Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing |
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Upregulation of the transcription factor TFEB in t(6;11)(p21;q13)-positive renal cell carcinomas due to promoter substitution |
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