Division of Clinical Genetics
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- 2014
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Mark
Robust isolation of malignant plasma cells in multiple myeloma.
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- Contribution to journal › Article
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Rearrangements of chromosome bands 15q12-q21 are secondary to HMGA2 deregulation in conventional lipoma.
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- Contribution to journal › Article
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Long-term prognosis of early-onset breast cancer in a population-based cohort with a known BRCA1/2 mutation status.
(
- Contribution to journal › Article
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RNA-seq identifies clinically relevant fusion genes in leukemia including a novel MEF2D/CSF1R fusion responsive to imatinib.
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- Contribution to journal › Letter
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DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
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- Contribution to journal › Article
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Myoepithelioma of bone with a novel FUS-POU5F1 fusion gene
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- Contribution to journal › Article
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Evolving techniques for gene fusion detection in soft tissue tumours.
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- Contribution to journal › Scientific review
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Reply to Duesberg: Stability of peritriploid and triploid states in neoplastic and nonneoplastic cells
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- Contribution to journal › Letter
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Recurrent EWSR1-CREB3L1 Gene Fusions in Sclerosing Epithelioid Fibrosarcoma.
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- Contribution to journal › Article
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Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?
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- Contribution to journal › Article
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GRIA2 is a novel diagnostic marker for solitary fibrous tumour identified through gene expression profiling
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- Contribution to journal › Article
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Prognostic Implications of Mutations in NOTCH1 and FBXW7 in Childhood T-ALL Treated According to the NOPHO ALL-1992 and ALL-2000 Protocols
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- Contribution to journal › Article
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Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.
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- Contribution to journal › Article
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High risk of in-breast tumor recurrence after BRCA1/2-associated breast cancer.
(
- Contribution to journal › Article
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Evaluation of CITED1, SIX1, and CD56 Protein Expression for Identification of Blastemal Elements in Wilms Tumor.
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- Contribution to journal › Article
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Sequencing IDH1/2 glioma mutation hotspots in gliomas and malignant peripheral nerve sheath tumors.
(
- Contribution to journal › Letter
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A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma.
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- Contribution to journal › Article
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Orthotopic Wilms tumor xenografts derived from cell lines reflect limited aspects of tumor morphology and clinical characteristics.
(
- Contribution to journal › Article
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GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma.
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- Contribution to journal › Article
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Risk of RAS in relapsed childhood ALL.
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- Contribution to journal › Debate/Note/Editorial
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Confined trisomy 8 mosaicism of meiotic origin: A rare cause of aneuploidy in childhood cancer.
(
- Contribution to journal › Article
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Clear cell sarcoma of the kidney demonstrates an embryonic signature indicative of a primitive nephrogenic origin.
(
- Contribution to journal › Article
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Fusions involving protein kinase C and membrane-associated proteins in benign fibrous histiocytoma.
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- Contribution to journal › Article
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Exomic analysis of myxoid liposarcomas, synovial sarcomas, and osteosarcomas
(
- Contribution to journal › Article
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Reply to Heng: Inborn aneuploidy and chromosomal instability
(
- Contribution to journal › Letter
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Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.
(
- Contribution to journal › Article
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Mark
A glioma classification scheme based on coexpression modules of EGFR and PDGFRA
2014) In Proceedings of the National Academy of Sciences of the United States of America 111(9). p.3538-3543(
- Contribution to journal › Article
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Mark
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
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Comprehensive genetic characterization of pediatric T-cell acute lymphoblastic leukemia
(
- Contribution to journal › Published meeting abstract
- 2013
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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
(
- Contribution to journal › Article
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Assessment of Fusion Gene Status in Sarcomas Using a Custom Made Fusion Gene Microarray
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- Contribution to journal › Article
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Loss of chromosomes is the primary event in near-haploid and low hypodiploid acute lymphoblastic leukemia.
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- Contribution to journal › Article
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The Tetraspanin CD9 Affords High-Purity Capture of All Murine Hematopoietic Stem Cells
(
- Contribution to journal › Article
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SOCS2 is dispensable for BCR/ABL1-induced chronic myeloid leukemia-like disease and for normal hematopoietic stem cell function.
(
- Contribution to journal › Article
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Mark
Functional Modeling of Genes Upregulated in Chronic Myeloid Leukemia
(
- Thesis › Doctoral thesis (compilation)
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Mark
Whole-genome-amplified DNA as a source for mutational analysis underestimates the frequency of mutations in pediatric acute myeloid leukemia
(
- Contribution to journal › Letter
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Better Prognosis of Patients with Glioma Expressing FGF2-Dependent PDGFRA Irrespective of Morphological Diagnosis.
(
- Contribution to journal › Article
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Intratumour diversity of chromosome copy numbers in neuroblastoma mediated by on-going chromosome loss from a polyploid state.
(
- Contribution to journal › Article
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Mark
The genomic landscape of hypodiploid acute lymphoblastic leukemia
(
- Contribution to journal › Article
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Constitutional trisomy 8 mosaicism as a model for epigenetic studies of aneuploidy.
(
- Contribution to journal › Article
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A Benign Vascular Tumor With a New Fusion Gene: EWSR1-NFATC1 in Hemangioma of the Bone.
(
- Contribution to journal › Article
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Partial 17q gain resulting from isochromosomes, unbalanced translocations, and complex rearrangements is associated with gene overexpression, older age, and shorter overall survival in high hyperdiploid childhood acute lymphoblastic leukemia.
(
- Contribution to journal › Letter
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Mark
Submicroscopic genomic imbalances in burkitt lymphomas/leukemias: Association with age and further evidence that 8q24/MYC translocations are not sufficient for leukemogenesis.
(
- Contribution to journal › Article
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Mark
Comprehensive genetic analysis identifies a pathognomonic NAB2/STAT6 fusion gene, nonrandom secondary genomic imbalances, and a characteristic gene expression profile in solitary fibrous tumor.
(
- Contribution to journal › Article
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Mark
Are 25 SNPs from the CARDIoGRAM study associated with ischaemic stroke?
(
- Contribution to journal › Article
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Mark
Cytogenetic and single nucleotide polymorphism array findings in soft tissue tumors in infants
(
- Contribution to journal › Article
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Distinct patterns of gained chromosomes in high hyperdiploid acute lymphoblastic leukemia with t(1;19)(q23;p13), t(9;22)(q34;q22) or MLL rearrangements.
(
- Contribution to journal › Letter
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Mark
Impact of malignant stem cell burden on therapy outcome in newly diagnosed chronic myeloid leukemia patients
(
- Contribution to journal › Article
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Efficient Immortalization of Primary Nasopharyngeal Epithelial Cells for EBV Infection Study
(
- Contribution to journal › Article
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High modal number and triple trisomies are highly correlated favorable factors in childhood B-cell precursor high hyperdiploid acute lymphoblastic leukemia treated according to the NOPHO ALL 1992/2000 protocols
(
- Contribution to journal › Article
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Mark
Promoter DNA Methylation Pattern Identifies Prognostic Subgroups in Childhood T-Cell Acute Lymphoblastic Leukemia
(
- Contribution to journal › Article
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Elevated tolerance to aneuploidy in cancer cells: estimating the fitness effects of chromosome number alterations by in silico modelling of somatic genome evolution.
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- Contribution to journal › Article
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Mark
Recurrent chromosome 22 deletions in osteoblastoma affect inhibitors of the wnt/beta-catenin signaling pathway.
(
- Contribution to journal › Article
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Novel Mutation in the KCNJ2 Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen-Tawil Syndrome.
(
- Contribution to journal › Article
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Mark
Whole chromosome gain does not in itself confer cancer-like chromosomal instability.
(
- Contribution to journal › Article
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Mark
Genomic Heterogeneity in Acute Leukemia.
(
- Contribution to journal › Article
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Mark
TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal
(
- Contribution to journal › Article
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Mark
Survival meta-analyses for >1800 malignant peripheral nerve sheath tumor patients with and without neurofibromatosis type 1.
(
- Contribution to journal › Article
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Analysis of Mice Lacking the Heparin-Binding Splice Isoform of Platelet-Derived Growth Factor A
(
- Contribution to journal › Article
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Selective killing of candidate AML stem cells by antibody targeting of IL1RAP.
(
- Contribution to journal › Article
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Lentiviral gene transfer of TCIRG1 into peripheral blood CD34(+) cells restores osteoclast function in infantile malignant osteopetrosis.
(
- Contribution to journal › Article
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Mark
Absence of Epstein-Barr and Cytomegalovirus Infection in Neuroblastoma Cells by Standard Detection Methodologies.
(
- Contribution to journal › Article
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Mark
snoRNPs Regulate Telomerase Activity in Neuroblastoma and Are Associated with Poor Prognosis.
(
- Contribution to journal › Article
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Mark
WHO Classification of Tumours of Soft Tissue and Bone : WHO Classification of Tumours, vol. 5
Fletcher, Christopher ; Bridge, JA ; Hogendoorn, PCW and Mertens, Fredrik LU (2013)
- Book/Report › Anthology (editor)
- 2012
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Mark
Whole-exome sequencing of pediatric acute lymphoblastic leukemia.
(
- Contribution to journal › Article
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Mark
Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer
(
- Contribution to journal › Article
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A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers
(
- Contribution to journal › Article
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Mark
Relation between smoking history and gene expression profiles in lung adenocarcinomas
(
- Contribution to journal › Article
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Mark
Smooth muscle actin expression in primary bone tumours
(
- Contribution to journal › Article
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Mark
Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol
(
- Contribution to journal › Letter
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Mark
Overexpression of Aurora-A promotes laryngeal cancer progression by enhancing invasive ability and chromosomal instability
(
- Contribution to journal › Article
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Mark
Distinct transcriptional control in major immunogenetic subsets of chronic lymphocytic leukemia exhibiting subset-biased global DNA methylation profiles
(
- Contribution to journal › Article
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Mark
Screening of Congenital Heart Disease Patients Using Multiplex Ligation-Dependent Probe Amplification: Early Diagnosis of Syndromic Patients
(
- Contribution to journal › Article
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Mark
Oncogenic activation of FOXR1 by 11q23 intrachromosomal deletion-fusions in neuroblastoma
(
- Contribution to journal › Article
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Mark
Homozygous deletions of cadherin genes in chondrosarcoma-an array comparative genomic hybridization study
(
- Contribution to journal › Article
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Mark
Chromosome dynamics and genomic instablity in neuroblastoma. Three genomic pillars: MYCN amplification, numerical and structural changes.
(
- Thesis › Doctoral thesis (compilation)
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Mark
Food intake and meal pattern in IAPP knockout mice with and without infusion of exogenous IAPP
(
- Contribution to journal › Article
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Mark
Report from the European Myeloma Network on interphase FISH in multiple myeloma and related disorders
(
- Contribution to journal › Article
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Mark
Malignant fibrous histiocytoma and fibrosarcoma of bone: a re-assessment in the light of currently employed morphological, immunohistochemical and molecular approaches
(
- Contribution to journal › Article
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Mark
Mantle cell lymphoma displays a homogenous methylation profile: A comparative analysis with chronic lymphocytic leukemia
(
- Contribution to journal › Article
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Mark
γ-Aminobutyric acid (GABA) signalling in human pancreatic islets is altered in type 2 diabetes.
(
- Contribution to journal › Article
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Mark
Identification of a novel, recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome-wide screen of exon-level expression data
(
- Contribution to journal › Article
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Mark
Increased incidence of childhood, prostate and breast cancers in relatives of childhood cancer patients.
(
- Contribution to journal › Article
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Mark
Genetics and democracy-what is the issue?
2012) In Journal of Community Genetics(
- Contribution to journal › Article
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Mark
Copy Number Defects of G1-Cell Cycle Genes in Neuroblastoma are Frequent and Correlate with High Expression of E2F Target Genes and a Poor Prognosis
(
- Contribution to journal › Article
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Mark
MUC4 Is a Sensitive and Extremely Useful Marker for Sclerosing Epithelioid Fibrosarcoma: Association With FUS Gene Rearrangement.
(
- Contribution to journal › Article
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Mark
Homozygous deletions of CDKN2A are present in all dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation
(
- Contribution to journal › Letter
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Mark
Molecular genetic characterization of the 11q13 breakpoint in a desmoplastic fibroma of bone
(
- Contribution to journal › Article
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Mark
Editorial: Genetics and Democracy
(
- Contribution to journal › Letter
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Mark
Characterization of the chromosomal translocation t(10;17)(q22;p13) in clear cell sarcoma of kidney
(
- Contribution to journal › Article
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Mark
Myeloid malignancies with acquired trisomy 21 as the sole cytogenetic change are clinically highly variable and display a heterogeneous pattern of copy number alterations and mutations(a).
(
- Contribution to journal › Article
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Mark
High ERG gene expression is an unfavorable prognostic marker in pediatric acute myeloid leukemia Response
(
- Contribution to journal › Letter
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Mark
Retained heterodisomy is associated with high gene expression in hyperhaploid inflammatory leiomyosarcoma.
(
- Contribution to journal › Article
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Mark
FOSL1 as a candidate target gene for 11q12 rearrangements in desmoplastic fibroblastoma.
(
- Contribution to journal › Article
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Mark
A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene.
(
- Contribution to journal › Article
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Mark
The MDM2 SNP309 G allele is not preferentially amplified in bone and soft tissue tumors.
(
- Contribution to journal › Article
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Mark
Recurrent Rearrangement of the PHF1 Gene in Ossifying Fibromyxoid Tumors.
(
- Contribution to journal › Article
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Mark
Fusion of the AHRR and NCOA2 genes through a recurrent translocation t(5;8)(p15;q13) in soft tissue angiofibroma results in upregulation of aryl hydrocarbon receptor target genes.
(
- Contribution to journal › Article
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Mark
Prevalence of germline TP53 mutations and history of Li-Fraumeni syndrome in families with childhood adrenocortical tumors, choroid plexus tumors, and rhabdomyosarcoma: A population-based survey.
(
- Contribution to journal › Article
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Mark
Biphasic, Hyperdiploid Breast Tumors in Children: A Distinct Entity?
2012) In Journal of Pediatric Hematology/Oncology(
- Contribution to journal › Article