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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Mark
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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A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma.
(
- Contribution to journal › Article
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Mark
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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Mark
Fusions involving protein kinase C and membrane-associated proteins in benign fibrous histiocytoma.
(
- Contribution to journal › Article
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Mark
Reply to Heng: Inborn aneuploidy and chromosomal instability
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- Contribution to journal › Letter
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Exomic analysis of myxoid liposarcomas, synovial sarcomas, and osteosarcomas
(
- Contribution to journal › Article
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Mark
Prognostic Implications of Mutations in NOTCH1 and FBXW7 in Childhood T-ALL Treated According to the NOPHO ALL-1992 and ALL-2000 Protocols
(
- Contribution to journal › Article
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Mark
Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.
(
- Contribution to journal › Article
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Mark
High risk of in-breast tumor recurrence after BRCA1/2-associated breast cancer.
(
- Contribution to journal › Article
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Mark
Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?
(
- Contribution to journal › Article
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GRIA2 is a novel diagnostic marker for solitary fibrous tumour identified through gene expression profiling
(
- Contribution to journal › Article
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Mark
Evaluation of CITED1, SIX1, and CD56 Protein Expression for Identification of Blastemal Elements in Wilms Tumor.
(
- Contribution to journal › Article
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Mark
Sequencing IDH1/2 glioma mutation hotspots in gliomas and malignant peripheral nerve sheath tumors.
(
- Contribution to journal › Letter
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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
Modeling chronic myeloid leukemia in immunodeficient mice reveals expansion of aberrant mast cells and accumulation of pre-B cells.
(
- Contribution to journal › Article
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Mark
IKAROS and LEUKEMIA
(
- Thesis › Doctoral thesis (compilation)
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Mark
Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma
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- Contribution to journal › Letter
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Mark
Nuclear expression of STAT6 distinguishes solitary fibrous tumor from histologic mimics
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- Contribution to journal › Article
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Mark
t(6;9)(p22; q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients
(
- Contribution to journal › Article
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Mark
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.
(
- Contribution to journal › Article
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Mark
Comprehensive genetic characterization of pediatric T-cell acute lymphoblastic leukemia
(
- Contribution to journal › Published meeting abstract
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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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Mark
Clear cell sarcoma of the kidney demonstrates an embryonic signature indicative of a primitive nephrogenic origin.
(
- Contribution to journal › Article
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Mark
HIF-1α can act as a tumor suppressor gene in murine Acute Myeloid Leukemia.
(
- Contribution to journal › Article
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Mark
Myoepithelioma of bone with a novel FUS-POU5F1 fusion gene
(
- Contribution to journal › Article
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Mark
Recurrent EWSR1-CREB3L1 Gene Fusions in Sclerosing Epithelioid Fibrosarcoma.
(
- Contribution to journal › Article
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Mark
GRM1 is upregulated through gene fusion and promoter swapping in chondromyxoid fibroma.
(
- Contribution to journal › Article
- 2013
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Mark
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
Better Prognosis of Patients with Glioma Expressing FGF2-Dependent PDGFRA Irrespective of Morphological Diagnosis.
(
- Contribution to journal › Article
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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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Mark
The genomic landscape of hypodiploid acute lymphoblastic leukemia
(
- Contribution to journal › Article
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Mark
Constitutional trisomy 8 mosaicism as a model for epigenetic studies of aneuploidy.
(
- Contribution to journal › Article
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Mark
Elevated tolerance to aneuploidy in cancer cells: estimating the fitness effects of chromosome number alterations by in silico modelling of somatic genome evolution.
(
- 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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Mark
Efficient Immortalization of Primary Nasopharyngeal Epithelial Cells for EBV Infection Study
(
- 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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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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Mark
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
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.
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- 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
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
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
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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Mark
A Benign Vascular Tumor With a New Fusion Gene: EWSR1-NFATC1 in Hemangioma of the Bone.
(
- Contribution to journal › Article
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Mark
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
Analysis of Mice Lacking the Heparin-Binding Splice Isoform of Platelet-Derived Growth Factor A
(
- 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
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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Mark
Genomic Heterogeneity in Acute Leukemia.
(
- 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)
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Mark
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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Mark
Assessment of Fusion Gene Status in Sarcomas Using a Custom Made Fusion Gene Microarray
(
- Contribution to journal › Article
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Mark
Loss of chromosomes is the primary event in near-haploid and low hypodiploid acute lymphoblastic leukemia.
(
- Contribution to journal › Article
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Mark
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
The Tetraspanin CD9 Affords High-Purity Capture of All Murine Hematopoietic Stem Cells
(
- 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
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
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
Selective killing of candidate AML stem cells by antibody targeting of IL1RAP.
(
- Contribution to journal › Article
- 2012
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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
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
Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer
(
- Contribution to journal › Article
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Mark
Relation between smoking history and gene expression profiles in lung adenocarcinomas
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- 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
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
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
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
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
Oncogenic activation of FOXR1 by 11q23 intrachromosomal deletion-fusions in neuroblastoma
(
- 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
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
Editorial: Genetics and Democracy
(
- Contribution to journal › Letter
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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
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
High ERG gene expression is an unfavorable prognostic marker in pediatric acute myeloid leukemia Response
(
- Contribution to journal › Letter
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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
SIX1 protein expression selectively identifies blastemal elements in Wilms tumor.
(
- Contribution to journal › Article
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Mark
Friedreich ataxia in patients with FXN p.R165P point mutation.
(
- Contribution to journal › Published meeting abstract
-
Mark
Disease-associated patterns of disomic chromosomes in hyperhaploid neoplasms.
(
- Contribution to journal › Article
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Mark
A novel GTF2I/NCOA2 fusion gene emphasizes the role of NCOA2 in soft tissue angiofibroma development.
2012) In Genes, Chromosomes and Cancer(
- Contribution to journal › Letter
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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
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Mark
Common Variants at the 19p13.1 and ZNF365 Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
2012) In Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 21(4). p.645-657(
- Contribution to journal › Article
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Mark
High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome.
(
- Contribution to journal › Article
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Mark
Analysis of giant cell tumour of bone cells for Noonan syndrome/Cherubism-related mutations.
2012) In Journal of Oral Pathology & Medicine(
- 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
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
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