Division of Clinical Genetics
601 – 700 of 1291
- show: 100
- |
- sort: year (new to old)
Close
Embed this list
<iframe src=" "
width=" "
height=" "
allowtransparency="true"
frameborder="0">
</iframe>
- 2012
-
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
-
Mark
Characterisation of amplification patterns and target genes at chromosome 11q13 in CCND1-amplified sporadic and familial breast tumours.
(
- Contribution to journal › Article
-
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
-
Mark
The retinoblastoma gene undergoes rearrangements in BRCA1-deficient basal-like breast cancer.
(
- Contribution to journal › Article
-
Mark
SIX1 protein expression selectively identifies blastemal elements in Wilms tumor.
(
- Contribution to journal › Article
-
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
-
Mark
High frequency of BTG1 deletions in acute lymphoblastic leukemia in children with down syndrome.
(
- Contribution to journal › Article
-
Mark
Tumor-initiating cells in childhood neuroblastoma : Letter
(
- Contribution to journal › Letter
-
Mark
SNP array and FISH findings in two pleomorphic hyalinizing angiectatic tumors.
(
- Contribution to journal › Article
-
Mark
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
-
Mark
Friedreich's ataxia in patients with FXN p.R165P point mutation
2012) 16th Congress of the European-Federation-of-Neurological-Societies (EFNS) In European Journal of Neurology 19(Suppl 1). p.727-727(
- Contribution to journal › Published meeting abstract
-
Mark
Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer
(
- Contribution to journal › Article
- 2011
-
Mark
Impact of TP53 mutation and 17p deletion in mantle cell lymphoma
(
- Contribution to journal › Letter
-
Mark
A large deletion identified in a Swedish family with type 1 VWD
(
- Contribution to journal › Letter
-
Mark
Genomic characterization of ETV6/RUNX1-positive acute lymphoblastic leukemia
(
- Thesis › Doctoral thesis (compilation)
-
Mark
The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial
(
- Contribution to journal › Article
-
Mark
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
(
- Contribution to journal › Article
-
Mark
MUC4 Is a Highly Sensitive and Specific Marker for Low-Grade Fibromyxoid Sarcoma
2011) Annual Meeting on the United States and Canadian-Academy-of-Pathology, 2011 In Laboratory Investigation 91. p.12-12(
- Contribution to journal › Published meeting abstract
-
Mark
Chromosome banding analysis of cells from fine-needle aspiration biopsy samples from soft tissue and bone tumors: is it clinically meaningful?
(
- Contribution to journal › Article
-
Mark
Mesenchymal stromal cells from primary osteosarcoma are non-malignant and strikingly similar to their bone marrow counterparts.
(
- Contribution to journal › Article
-
Mark
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2
(
- Contribution to journal › Article
-
Mark
Tumor-Infiltrating Macrophages Are Associated with Metastasis Suppression in High-Grade Osteosarcoma: A Rationale for Treatment with Macrophage-Activating Agents
2011) Annual Meeting on the United States and Canadian-Academy-of-Pathology, 2011 In Laboratory Investigation 91(Feb 26 - Mar 4, 2011). p.10-10(
- Contribution to journal › Published meeting abstract
-
Mark
Presence of FLT3-ITD and high BAALC expression are independent prognostic markers in childhood acute myeloid leukemia
(
- Contribution to journal › Article
-
Mark
CYTOGENETIC AND MOLECULAR GENETIC CHARACTERIZATION OF LIPOMAS
(
- Thesis › Doctoral thesis (compilation)
-
Mark
Clonal Evolution through Loss of Chromosomes and Subsequent Polyploidization in Chondrosarcoma.
(
- Contribution to journal › Article
-
Mark
Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation
(
- Contribution to journal › Article
-
Mark
Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities Background Document to the ESHG recommendations on genetic testing and common disorders
(
- Contribution to journal › Article
-
Mark
Aneuploidy in cancer: Sudden or sequential?
(
- Contribution to journal › Article
-
Mark
Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study
(
- Contribution to journal › Article
-
Mark
Combination of pegylated IFN-alpha 2b with imatinib increases molecular response rates in patients with low- or intermediate-risk chronic myeloid leukemia
(
- Contribution to journal › Article
-
Mark
Tumor-Infiltrating Macrophages Are Associated with Metastasis Suppression in High-Grade Osteosarcoma: A Rationale for Treatment with Macrophage Activating Agents
(
- Contribution to journal › Article
-
Mark
Malignant Fibrous Histiocytoma and Fibrosarcoma of Bone in 2011: What's New?
2011) Annual Meeting on the United States and Canadian-Academy-of-Pathology, 2011 In Laboratory Investigation 91. p.20-20(
- Contribution to journal › Published meeting abstract
-
Mark
Mutation Update for the PORCN Gene
(
- Contribution to journal › Article
-
Mark
Amplification of the G allele at SNP rs6983267 in 8q24 amplicons in myeloid malignancies as cause of the lack of MYC overexpression?
(
- Contribution to journal › Letter
-
Mark
Identification of a Novel, Recurrent HEY1-NCOA2 Fusion in Mesenchymal Chondrosarcoma Based on a Genome-Wide Screen of Exon-Level Expression Data
2011) Annual Meeting on the United States and Canadian-Academy-of-Pathology, 2011 In Laboratory Investigation 91. p.23-23(
- Contribution to journal › Published meeting abstract
-
Mark
Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy
(
- Contribution to journal › Article
-
Mark
Fusion Gene Microarray Reveals Cancer Type-Specificity Among Fusion Genes
(
- Contribution to journal › Article
-
Mark
Gene expression and single nucleotide polymorphism array analyses of spindle cell lipomas and conventional lipomas with 13q14 deletion.
(
- Contribution to journal › Article
-
Mark
HMGA2 and MDM2 expression in lipomatous tumors with partial, low-level amplification of sequences from the long arm of chromosome 12.
(
- Contribution to journal › Article
-
Mark
MUC4 Is a Highly Sensitive and Specific Marker for Low-grade Fibromyxoid Sarcoma.
(
- Contribution to journal › Article
-
Mark
Paediatric B-cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13): clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols.
(
- Contribution to journal › Article
-
Mark
The t(X;6) in subungual exostosis results in transcriptional deregulation of the gene for insulin receptor substrate 4.
(
- Contribution to journal › Article
-
Mark
Bilateral Prophylactic Mastectomy in Swedish Women at High Risk of Breast Cancer: A National Survey.
(
- Contribution to journal › Article
-
Mark
t(9;11)(p22;p15) [NUP98/PSIP1] is a poor prognostic marker associated with de novo acute myeloid leukaemia expressing both mature and immature surface antigens.
(
- Contribution to journal › Letter
-
Mark
FUS-CREB3L2/L1-Positive Sarcomas Show a Specific Gene Expression Profile with Upregulation of CD24 and FOXL1.
(
- Contribution to journal › Article
-
Mark
Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation Carriers.
(
- Contribution to journal › Article
-
Mark
SNP array analysis of leukemic relapse samples after allogeneic hematopoietic stem cell transplantation with a sibling donor identifies meiotic recombination spots and reveals possible correlation with the breakpoints of acquired genetic aberrations.
(
- Contribution to journal › Article
-
Mark
Translocation t(7;19)(q22;q13)-a recurrent chromosome aberration in pseudomyogenic hemangioendothelioma?
(
- Contribution to journal › Article
-
Mark
The insulin receptor substrate 4 gene (IRS4) is mutated in paediatric T-cell acute lymphoblastic leukaemia.
(
- Contribution to journal › Letter
-
Mark
SMAD4 binds HOXA9 in the cytoplasm and protects primitive hematopoietic cells against nuclear activation by HOXA9 and leukemia transformation.
(
- Contribution to journal › Article
-
Mark
Alternative lengthening of telomeres-An enhanced chromosomal instability in aggressive non-MYCN amplified and telomere elongated neuroblastomas.
(
- Contribution to journal › Article
-
Mark
Mechanisms of Whole Chromosome Gains in Tumors - Many Answers to a Simple Question.
(
- Contribution to journal › Article
-
Mark
Cytogenetic and molecular genetic characterization of the 'high hyperdiploid' B-cell precursor acute lymphoblastic leukaemia cell line MHH-CALL-2 reveals a near-haploid origin.
(
- Contribution to journal › Letter
-
Mark
High-resolution genomic profiling of an adult Wilms' tumor: evidence for a pathogenesis distinct from corresponding pediatric tumors.
(
- Contribution to journal › Article
-
Mark
Intratumor diversity and clonal evolution in cancer-a skeptical standpoint.
(
- Contribution to journal › Article
-
Mark
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
(
- Contribution to journal › Article
- 2010
-
Mark
Genetic Abnormalities of the Transcription Factor T (Brachyury) in Sporadic Chordomas
2010) Annual Meeting of the Association-for-Molecular-Pathology In The Journal Of Molecular Diagnostics 12(6). p.906-906(
- Contribution to journal › Published meeting abstract
-
Mark
Epigenetic target genes in malignant peripheral nerve sheath tumours identified as surrogate prognostic biomarkers
2010) 21st Meeting of the European-Association-for-Cancer-Research In EJC Supplements 8(5). p.163-163(
- Contribution to journal › Published meeting abstract
-
Mark
HIF1 alpha isoforms in benign and malignant prostate tissue and their correlation to neuroendocrine differentiation
(
- Contribution to journal › Article
-
Mark
Integrative analysis of gene expression and copy number alterations using canonical correlation analysis
(
- Contribution to journal › Article
-
Mark
Prognostic value of gene expression targeted by gain of 17q sequences in malignant peripheral nerve sheath tumours
2010) 21st Meeting of the European-Association-for-Cancer-Research In EJC Supplements 8(5). p.122-122(
- Contribution to journal › Published meeting abstract
-
Mark
Heterogeneous and Complex Rearragements of the Long Arm of Chromosome 6 in Chondromyxoid Fibroma
2010) 99th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology In Modern Pathology 23(Suppl. 1). p.27-27(
- Contribution to journal › Published meeting abstract
-
Mark
Genome Wide Array Based Methylation Profiling Reveals Preferential Methylation of Homeobox Transcription Factor Genes In Mantle Cell Lymphoma and Pro Apoptotic Genes In Chronic Lymphocytic Leukemia
(
- Contribution to journal › Published meeting abstract
-
Mark
Heterogeneous and Complex Rearragements of the Long Arm of Chromosome 6 in Chondromyxoid Fibroma
2010) 99th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology In Laboratory Investigation 90(Suppl. 1). p.27-27(
- Contribution to journal › Published meeting abstract
-
Mark
Myeloid Leukemia of Down Syndrome The Results of An International Retrospective Study
(
- Contribution to journal › Published meeting abstract
-
Mark
Deletions of 16q in Wilms Tumors Localize to Blastemal-Anaplastic Cells and Are Associated with Reduced Expression of the IRXB Renal Tubulogenesis Gene Cluster.
(
- Contribution to journal › Article
-
Mark
How to Handle Genetic Information: A Comparison of Attitudes among Patients and the General Population
(
- Contribution to journal › Article
-
Mark
The correlation pattern of acquired copy number changes in 164 ETV6/RUNX1-positive childhood acute lymphoblastic leukemias
(
- Contribution to journal › Article
-
Mark
EWSR1 and FUS fusion genes in tumorigenesis
(
- Thesis › Doctoral thesis (compilation)
-
Mark
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : implications for risk prediction
(
- Contribution to journal › Article
-
Mark
Unrelated clones in AML/MDS - characterisation and prognostic relevance
(
- Contribution to journal › Published meeting abstract
-
Mark
Molecular and functional studies of ABL1 and FGFR1 fusion oncogenes in myeloproliferative neoplasms
(
- Thesis › Doctoral thesis (compilation)
-
Mark
Unrelated Clones In Myelodysplastic Syndromes and Acute Myeloid Leukemia Characterization and Prognostic Relevance
(
- Contribution to journal › Published meeting abstract
-
Mark
Single cell analysis of the common lymphoid progenitor compartment reveals functional and molecular heterogeneity.
(
- Contribution to journal › Article
-
Mark
Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia
(
- Contribution to journal › Article
-
Mark
Modeling the human 8p11-myeloproliferative syndrome in immunodeficient mice
(
- Contribution to journal › Article
-
Mark
Genetic Screening in Europe
(
- Contribution to journal › Article
-
Mark
Benchmarks for Cystic Fibrosis carrier screening: A European consensus document
(
- Contribution to journal › Scientific review
-
Mark
Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
(
- Contribution to journal › Article
-
Mark
In Vivo and In Vitro Implications of the Transcription Factor T (Brachyury) in Pathogenesis of Sporadic Chordomas
2010) 198th Scientific Meeting of the Pathological-Society-of-Great Britain-and-Ireland In Journal of Pathology 222. p.6-6(
- Contribution to journal › Published meeting abstract
-
Mark
SMAD4 Sequestrates HOXA9 to Protect Hematopoietic Stem Cells Against Leukemia Transformation
(
- Contribution to journal › Published meeting abstract
-
Mark
The Proportion of Ph+CD34(+)CD38(neg) Leukemic Stem Cells In the Bone Marrow of Newly Diagnosed Patients with Chronic Myeloid Leukemia (CML) In Chronic Phase (CP) Is Variable and Correlates with High Sokal Risk, High Leukocyte Count, Low Hemoglobin Concentration, Splenomegaly and Increased Hematological Toxicity During Initial TKI Therapy Data From a Randomized Phase II NordCML006 Study
(
- Contribution to journal › Published meeting abstract
-
Mark
Expression of Epstein-Barr Virus-Encoded LMP1 and hTERT Extends the Life Span and Immortalizes Primary Cultures of Nasopharyngeal Epithelial Cells
(
- Contribution to journal › Article
-
Mark
Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations
(
- Contribution to journal › Article
-
Mark
Heterogeneous and Complex Rearrangements of Chromosome Arm 6q in Chondromyxoid Fibroma. Delineation of Breakpoints and Analysis of Candidate Target Genes.
(
- Contribution to journal › Article
-
Mark
Generation of trisomies in cancer cells by multipolar mitosis and incomplete cytokinesis.
(
- Contribution to journal › Article
-
Mark
The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations.
(
- Contribution to journal › Article
-
Mark
Genomic Changes in Chromosomes 10, 16, and X in Malignant Peripheral Nerve Sheath Tumors Identify a High-Risk Patient Group.
(
- Contribution to journal › Article
-
Mark
Isolation and killing of candidate chronic myeloid leukemia stem cells by antibody targeting of IL-1 receptor accessory protein.
(
- Contribution to journal › Article
-
Mark
Persistent malignant stem cells in del(5q) myelodysplasia in remission.
(
- Contribution to journal › Article
-
Mark
Genetic bottlenecks and the hazardous game of population reduction in cell line based research.
(
- Contribution to journal › Article
-
Mark
Genetic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.
(
- Contribution to journal › Article
-
Mark
dup(19)(q12q13.2): Array-based Genotype-Phenotype Correlation of a New Possibly Obesity-related Syndrome.
(
- Contribution to journal › Article
-
Mark
Concomitant deletions of tumor suppressor genes MEN1 and AIP are essential for the pathogenesis of the brown fat tumor hibernoma.
(
- Contribution to journal › Article
-
Mark
Characterization of an alternative transcript of the human CREB3L2 gene.
(
- Contribution to journal › Article
-
Mark
Gene expression signatures in childhood acute leukemias are largely unique and distinct from those of normal tissues and other malignancies.
(
- Contribution to journal › Article
-
Mark
Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations.
(
- Contribution to journal › Article
-
Mark
Comparison of high-frequency QRS components and ST-segment elevation to detect and quantify acute myocardial ischemia.
(
- Contribution to journal › Article
-
Mark
Genetic analysis of dasatinib-treated chronic myeloid leukemia rapidly developing into acute myeloid leukemia with monosomy 7 in Philadelphia-negative cells.
(
- Contribution to journal › Article