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- 2009
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Mark
Sharing data between LSDBs and central repositories.
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- Contribution to journal › Article
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The DNA methylome of pediatric acute lymphoblastic leukemia.
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- Contribution to journal › Article
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Bioinformatics services related to diagnosis of primary immunodeficiencies.
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- Contribution to journal › Scientific review
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Comparative sequence analysis of the non-protein-coding mitochondrial DNA of inbred rat strains.
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- Contribution to journal › Article
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Copy number analysis indicates monoclonal origin of lethal metastatic prostate cancer.
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- Contribution to journal › Letter
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Crystal structure of a 1.6-hexanediol bound tetrameric form of Escherichia coli lac-repressor refined to 2.1 A resolution.
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- Contribution to journal › Article
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Characterization of the human CREB3L2 gene promoter
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- Contribution to journal › Article
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Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.
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- Contribution to journal › Scientific review
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A novel mutation in CD40 and its functional characterization.
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- Contribution to journal › Article
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Translocation-related sarcomas.
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- Contribution to journal › Article
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Risk for multiple sclerosis in relatives and spouses of patients diagnosed with autoimmune and related conditions
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- Contribution to journal › Article
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Bidirectionality and transcriptional activity of the EWSR1 promoter region
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- Contribution to journal › Article
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Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations
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- Contribution to journal › Article
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A Recombinant Adenovirus Type 35 Fiber Knob Protein Sensitizes Lymphoma Cells to Rituximab Therapy
2009) 12th Annual Meeting of the American Society of Gene Therapy In Molecular Therapy 17. p.240-240(
- Contribution to journal › Published meeting abstract
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Mark
Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levels
(
- Contribution to journal › Article
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Mark
No Genomic Aberrations in Langerhans Cell Histiocytosis as Assessed by Diverse Molecular Technologies
(
- Contribution to journal › Article
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Comparison of cisplatin sensitivity and the 18F fluoro-2-deoxy 2 glucose uptake with proliferation parameters and gene expression in squamous cell carcinoma cell lines of the head and neck
(
- Contribution to journal › Article
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Mark
Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus
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- Contribution to journal › Article
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Mark
Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip
(
- Contribution to journal › Article
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Mark
Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism
(
- Contribution to journal › Article
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Characterization of a Hotspot Region on Chromosome 12 for Amplification in Ring Chromosomes in Atypical Lipomatous Tumors
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- Contribution to journal › Article
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Tissue-specific alternative splicing of TCF7L2
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- Contribution to journal › Article
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t(19;22)(q13;q12) Translocation Leading to the Novel Fusion Gene EWSRI-ZNF444 in Soft Tissue Myoepithelial Carcinoma
(
- Contribution to journal › Article
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Mark
ISCN (2009): Important revisions and new additions to molecular methods for copy number detection for cytogenetic analysis
(
- Contribution to journal › Published meeting abstract
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Mark
Balanced and Unbalanced Rearrangement of Chromosome Arm 6q in Chondromyxoid Fibroma (CMF): Delineation of Breakpoints and Analysis of Candidate Target Genes
2009) 98th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology In Laboratory Investigation 89(S1). p.21-21(
- Contribution to journal › Published meeting abstract
- 2008
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Mark
Detection of submicroscopic constitutional chromosome aberrations in clinical diagnostics: a validation of the practical performance of different array platforms
(
- Contribution to journal › Article
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Mark
Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus
(
- Contribution to journal › Article
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Mark
Sex differences in a transgenic rat model of Huntington's disease: decreased 17 beta-estradiol levels correlate with reduced numbers of DARPP32(+) neurons in males
(
- Contribution to journal › Article
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Mark
Subjects heterozygous for genetic loss of function of the thiazide-sensitive cotransporter have reduced blood pressure
(
- Contribution to journal › Article
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Mark
EuroGentest: DNA-based testing for heritable disorders in Europe
(
- Contribution to journal › Article
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Positional cloning of the Igl genes controlling rheumatoid factor production and allergic bronchitis in rats
(
- Contribution to journal › Article
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Mark
Deep-seated ordinary and atypical lipomas - Histopathology, cytogenetics, clinical features, and outcome in 215 tumours of the extremity and trunk wall
(
- Contribution to journal › Article
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Mark
Characterization and Genetic Mapping of Bone Size Phenotypes in GK and F344 Rats Using a New 3D CT Method.
2008) 30th Annual Meeting of the American-Society-for-Bone-and-Mineral-Research In Journal of Bone and Mineral Research 23. p.492-492(
- Contribution to journal › Published meeting abstract
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Mark
CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome
(
- Contribution to journal › Article
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Mark
Independent introduction of two lactase-persistence alleles into human populations reflects different history of adaptation to milk culture
(
- Contribution to journal › Article
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The effect of pedigree structure on detection of deletions and other null alleles.
(
- Contribution to journal › Article
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Detection of a t(1;22)(q23;q 12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma
(
- Contribution to journal › Article
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Mark
Regulations and practices of genetic counselling in 38 European countries: the perspective of national representatives
(
- Contribution to journal › Article
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Mark
Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays
(
- Contribution to journal › Article
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Mark
What is ideal genetic counselling? A survey of current international guidelines
(
- Contribution to journal › Article
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Mark
Novel expression and transcriptional regulation of FoxJ1 during oro-facial morphogenesis
(
- Contribution to journal › Article
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Mark
Clinical and cytogenetic features of pediatric dic(9;20)(p13.2;q11.2)-positive B-Cell precursor acute lymphoblastic leukemias: A nordic series of 24 cases and review of the literature
(
- Contribution to journal › Scientific review
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Mark
Models from experiments: combinatorial drug perturbations of cancer cells
(
- Contribution to journal › Article
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Mark
CANCER-RELATED GENE REGULATION MECHANISMS
(
- Thesis › Doctoral thesis (compilation)
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Mark
The Fatty Acid Amide Hydrolase (FAAH) Pro129Thr Polymorphism is not Associated with Severe Obesity in Greek Subjects
(
- Contribution to journal › Article
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Mark
Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay.
(
- Contribution to journal › Article
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Mark
The FLT3 inhibitor PKC412 in combination with cytostatic drugs in vitro in acute myeloid leukemia
(
- Contribution to journal › Article
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Mark
Fusion of the COL1A1 and USP6 genes in a benign bone tumor.
(
- Contribution to journal › Article
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Mark
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation
(
- Contribution to journal › Article
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Mark
Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72
(
- Contribution to journal › Article
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Mark
The hypermethylome of pediatric acute lymphoblastic leukemia
(
- Contribution to journal › Published meeting abstract
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Mark
Array based genetic profiling of bone and soft tissue tumors
(
- Thesis › Doctoral thesis (compilation)
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Mark
Molecular screening for new fusion genes in cancer
(
- Contribution to journal › Debate/Note/Editorial
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Glial Progenitor-Like Phenotype in Low-Grade Glioma and Enhanced CD133-Expression and Neuronal Lineage Differentiation Potential in High-Grade Glioma
(
- Contribution to journal › Article
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Mark
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome
(
- Contribution to journal › Article
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Mark
Compression algorithm for pre-simulated Monte Carlo p-value functions: Application to the ontological analysis of microarray studies
(
- Contribution to journal › Article
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Mark
Ischaemic stroke in hypertensive patients is associated with variations in the PDE4D genome region.
(
- Contribution to journal › Article
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Mark
Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype-phenotype correlation and a comprehensive review of previously published cases.
(
- Contribution to journal › Article
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Model-based prediction of sequence alignment quality.
(
- Contribution to journal › Article
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High-resolution molecular cytogenetic analysis of Wilms tumors highlights diagnostic difficulties among small round cell kidney tumors.
(
- Contribution to journal › Article
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Mark
A PCR/restriction digestion assay for the detection of the transcript variants 1 and 2 of POU5F1.
(
- Contribution to journal › Article
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POU5F1, encoding a key regulator of stem cell pluripotency, is fused to EWSR1 in hidradenoma of the skin and mucoepidermoid carcinoma of the salivary glands.
(
- Contribution to journal › Article
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Mark
An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera
(
- Contribution to journal › Article
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Mark
Physicochemical feature-based classification of amino acid mutations.
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- Contribution to journal › Article
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Classification of chromosome segregation errors in cancer.
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- Contribution to journal › Article
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Dynamic covariation between gene expression and genome characteristics.
(
- Contribution to journal › Article
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Mark
Efficiency of the immunome protein interaction network increases during evolution.
(
- Contribution to journal › Article
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Increased sensitivity to bleomycin in upper aerodigestive tract mucosa of head and neck squamous cell carcinoma patients.
(
- Contribution to journal › Article
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Promoter analysis of epigenetically controlled genes in bladder cancer.
(
- Contribution to journal › Article
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FLT3 mutations in a 10 year consecutive series of 177 childhood acute leukemias and their impact on global gene expression patterns.
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- Contribution to journal › Article
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Mark
Strategies for Conditional Two-Locus Nonparametric Linkage Analysis.
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- Contribution to journal › Article
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Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH).
(
- Contribution to journal › Article
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Mark
KAP1-Mediated Epigenetic Repression in the Forebrain Modulates Behavioral Vulnerability to Stress
(
- Contribution to journal › Article
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Genome wide analysis of pathogenic SH2 domain mutations.
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- Contribution to journal › Article
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Interaction between smoking and genetic factors in the development of chronic bronchitis
(
- Contribution to journal › Article
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Do inflammatory bowel disease and cancer share susceptibility : a family study
(
- Contribution to journal › Letter
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Mark
Familial risks for common diseases : etiologic clues and guidance to gene identification
(
- Contribution to journal › Scientific review
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Mark
When the genome plays dice: circumvention of the spindle assembly checkpoint and near-random chromosome segregation in multipolar cancer cell mitoses.
(
- Contribution to journal › Article
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Mark
Tiling resolution array CGH and high density expression profiling of urothelial carcinomas delineate genomic amplicons and candidate target genes specific for advanced tumors.
(
- Contribution to journal › Article
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Mark
Cytogenetic and molecular cytogenetic findings in lipoblastoma.
(
- Contribution to journal › Article
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Expression of sterol regulatory element-binding transcription factor (SREBF) 2 and SREBF cleavage-activating protein (SCAP) in human atheroma and the association of their allelic variants with sudden cardiac death.
(
- Contribution to journal › Article
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Mark
Binomial mitotic segregation of MYCN-carrying double minutes in neuroblastoma illustrates the role of randomness in oncogene amplification.
(
- Contribution to journal › Article
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Mark
Phylogeny of Tec family kinases identification of a premetazoan origin of Btk, Bmx, Itk, Tec, Txk, and the Btk regulator SH3BP5.
(
- Contribution to journal › Scientific review
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Mark
Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia
(
- Contribution to journal › Article
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Mark
Gene expression analysis of BCR/ABL1-dependent transcriptional response reveals enrichment for genes involved in negative feedback regulation.
(
- Contribution to journal › Article
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Mark
Microdeletions are a general feature of adult and adolescent acute lymphoblastic leukemia: Unexpected similarities with pediatric disease
(
- Contribution to journal › Article
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Mark
Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause
(
- Contribution to journal › Article
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Mark
Molecular identification of COL6A3-CSF1 fusion transcripts in tenosynovial giant cell tumors
(
- Contribution to journal › Article
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Mark
A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5
(
- Contribution to journal › Article
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Mark
Neonatal hematopoietic stem cell transplantation following low-dose busulphan conditioning reverses osteopetrosis and preserves vision in oc/oc mice
2008) 16th Annual Congress of the European-Society-of-Gene-and-Cell-Therapy In Human Gene Therapy 19(10). p.1183-1184(
- Contribution to journal › Published meeting abstract
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Mark
Mechanisms and Consequences of Chromosomal Instability in Malignant tumours
(
- Thesis › Doctoral thesis (monograph)
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Mark
An improved method for detecting and delineating genomic regions with altered gene expression in cancer
(
- Contribution to journal › Article
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Mark
Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale
(
- Contribution to journal › Article
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Mark
Genetics in clinical practice: general practitioners' educational priorities in European countries
(
- Contribution to journal › Article
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Mark
Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12
(
- Contribution to journal › Article
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Identifying Genetic Traces of Historical Expansions : Phoenician Footprints in the Mediterranean
(
- Contribution to journal › Article
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Mark
Y-Chromosomal Diversity in Lebanon Is Structured by Recent Historical Events
(
- Contribution to journal › Article
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Mark
Non-negative matrix factorization for the analysis of complex gene expression data : Identification of clinically relevant tumor subtypes
(
- Contribution to journal › Article
- 2007
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Mark
Proposals for standardized Protocols for cytogenetic analyses of acute leukemias, chronic lymphocytic leukemia, chronic myeloid leukemia, chronic myeloproliferative disorders, and myelodysplastic syndromes
(
- Contribution to journal › Article
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Mark
Cytogenetic evolution patterns in CML post-SCT.
(
- Contribution to journal › Article