Item Type | Name |
Academic Article
|
Transcription of the human beta-globin gene is stimulated by an SV40 enhancer to which it is physically linked but topologically uncoupled.
|
Academic Article
|
The use of psoralen-modified DNA to probe the mechanism of enhancer action.
|
Academic Article
|
Abrogation of the G2 checkpoint results in differential radiosensitization of G1 checkpoint-deficient and G1 checkpoint-competent cells.
|
Academic Article
|
Human Cdc34 and Rad6B ubiquitin-conjugating enzymes target repressors of cyclic AMP-induced transcription for proteolysis.
|
Academic Article
|
Cancer. A risky business--assessing breast cancer risk.
|
Academic Article
|
Genetic testing and cancer risk management recommendations by physicians for at-risk relatives.
|
Academic Article
|
Constitutional tandem duplication of 9q34 that truncates EHMT1 in a child with ganglioglioma.
|
Academic Article
|
Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene.
|
Academic Article
|
Clinical utility of array comparative genomic hybridization for detection of chromosomal abnormalities in pediatric acute lymphoblastic leukemia.
|
Academic Article
|
Sensitivity of RECQL4-deficient fibroblasts from Rothmund-Thomson syndrome patients to genotoxic agents.
|
Academic Article
|
Multiple tumors in a child with germ-line mutations in TP53 and PTEN.
|
Academic Article
|
Cyclin D and cisplatin cytotoxicity in primary neuroblastoma cell lines.
|
Academic Article
|
Bortezomib interactions with chemotherapy agents in acute leukemia in vitro.
|
Academic Article
|
Incidental copy-number variants identified by routine genome testing in a clinical population.
|
Academic Article
|
BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.
|
Concept
|
Expert Testimony
|
Concept
|
MAP Kinase Signaling System
|
Concept
|
Humans
|
Concept
|
Chromosomes, Human, Pair 18
|
Concept
|
Doxorubicin
|
Concept
|
Precursor Cell Lymphoblastic Leukemia-Lymphoma
|
Concept
|
Likelihood Functions
|
Concept
|
Sarcoma
|
Concept
|
Chromosomes, Human, Pair 12
|
Concept
|
Jurkat Cells
|
Concept
|
Colorectal Neoplasms, Hereditary Nonpolyposis
|
Concept
|
MyoD Protein
|
Concept
|
Ikaros Transcription Factor
|
Concept
|
National Human Genome Research Institute (U.S.)
|
Concept
|
Cholestasis, Intrahepatic
|
Concept
|
Thyroid Neoplasms
|
Concept
|
Motivation
|
Concept
|
Pilot Projects
|
Concept
|
Membrane Glycoproteins
|
Concept
|
Oncogene Fusion
|
Concept
|
DNA, Superhelical
|
Concept
|
Europe
|
Concept
|
Comparative Genomic Hybridization
|
Concept
|
Translating
|
Concept
|
Muscle Hypotonia
|
Concept
|
History, 20th Century
|
Concept
|
Rabbits
|
Concept
|
Aneuploidy
|
Concept
|
Adaptor Proteins, Signal Transducing
|
Concept
|
Intellectual Disability
|
Concept
|
Intussusception
|
Concept
|
Central Nervous System Neoplasms
|
Concept
|
Lymphocytes
|
Concept
|
Longitudinal Studies
|
Concept
|
Zinc Fingers
|
Concept
|
Adrenal Cortex Neoplasms
|
Concept
|
Calpain
|
Concept
|
Inhibitory Concentration 50
|
Concept
|
GTP-Binding Protein beta Subunits
|
Concept
|
Microscopy, Fluorescence
|
Concept
|
Odds Ratio
|
Concept
|
Power Plants
|
Concept
|
Nuclear Receptor Coactivators
|
Concept
|
Horseshoe Crabs
|
Concept
|
Parents
|
Concept
|
Confidentiality
|
Concept
|
Kruppel-Like Transcription Factors
|
Concept
|
Antineoplastic Combined Chemotherapy Protocols
|
Concept
|
Body Mass Index
|
Concept
|
Linguistics
|
Concept
|
Enzyme-Linked Immunosorbent Assay
|
Concept
|
Neutrophils
|
Concept
|
Karyotyping
|
Concept
|
Precision Medicine
|
Concept
|
DNA Methylation
|
Concept
|
Electronic Health Records
|
Concept
|
Ki-67 Antigen
|
Concept
|
Health Surveys
|
Concept
|
Temperature
|
Concept
|
Leukemia, Radiation-Induced
|
Concept
|
Family Practice
|
Concept
|
Databases, Factual
|
Concept
|
Brain Neoplasms
|
Concept
|
Informed Consent
|
Concept
|
Body Height
|
Concept
|
Gene Amplification
|
Concept
|
Terminology as Topic
|
Concept
|
Lung Neoplasms
|
Concept
|
Monte Carlo Method
|
Concept
|
Cyclin-Dependent Kinase 6
|
Concept
|
Death
|
Concept
|
Data Interpretation, Statistical
|
Concept
|
Kaplan-Meier Estimate
|
Concept
|
Heat-Shock Proteins
|
Concept
|
Wilms Tumor
|
Concept
|
Chromosomes, Human, Pair 16
|
Concept
|
Ultraviolet Rays
|
Concept
|
Patient Participation
|
Concept
|
Colonoscopy
|
Concept
|
MutS Homolog 2 Protein
|
Concept
|
Mitochondria
|
Concept
|
Flow Cytometry
|
Concept
|
Neoplasms, Germ Cell and Embryonal
|
Concept
|
Ethics, Medical
|
Concept
|
Incidence
|
Concept
|
Chromosomes, Human, Pair 17
|
Concept
|
Prostatic Neoplasms
|
Concept
|
Introns
|
Concept
|
Proportional Hazards Models
|
Concept
|
Multiple Endocrine Neoplasia Type 1
|
Concept
|
Recurrence
|
Concept
|
Vertebrates
|
Concept
|
PTEN Phosphohydrolase
|
Concept
|
Oncogenes
|
Concept
|
Texas
|
Concept
|
Cell Division
|
Concept
|
Mutagens
|
Concept
|
Magnetic Resonance Imaging
|
Concept
|
Adrenal Gland Neoplasms
|
Concept
|
Trisomy
|
Concept
|
Hematologic Neoplasms
|
Concept
|
Drosophila melanogaster
|
Concept
|
Cyclin-Dependent Kinases
|
Concept
|
COS Cells
|
Concept
|
Genetic Complementation Test
|
Concept
|
Optic Nerve Neoplasms
|
Concept
|
Syndactyly
|
Concept
|
Research Design
|
Concept
|
Ubiquitin
|
Concept
|
Genes, Viral
|
Concept
|
Sarcoma, Clear Cell
|
Concept
|
Confidence Intervals
|
Concept
|
Genetic Testing
|
Concept
|
Demography
|
Concept
|
Sirolimus
|
Concept
|
Allied Health Personnel
|
Concept
|
Mice, Knockout
|
Concept
|
Feasibility Studies
|
Concept
|
Amino Acid Sequence
|
Concept
|
Disease-Free Survival
|
Concept
|
Animals
|
Concept
|
Interviews as Topic
|
Concept
|
Disease Susceptibility
|
Concept
|
Li-Fraumeni Syndrome
|
Concept
|
Hepatoblastoma
|
Concept
|
Amino Acid Substitution
|
Concept
|
Societies, Medical
|
Concept
|
Patient Education as Topic
|
Concept
|
Glial Fibrillary Acidic Protein
|
Concept
|
Syndrome
|
Concept
|
Chromosome Breakage
|
Concept
|
Ovarian Neoplasms
|
Concept
|
Ataxia Telangiectasia
|
Concept
|
Neurofibromatosis 1
|
Concept
|
National Institutes of Health (U.S.)
|
Concept
|
Chromosomes, Human, Pair 14
|
Concept
|
Osteoporosis
|
Concept
|
Amino Acid Metabolism, Inborn Errors
|
Concept
|
Microsatellite Repeats
|
Concept
|
Down Syndrome
|
Concept
|
Health Care Surveys
|
Concept
|
Neutropenia
|
Concept
|
Genetic Privacy
|
Concept
|
Data Collection
|
Concept
|
Survival Analysis
|
Concept
|
ATP-Binding Cassette Transporters
|
Concept
|
Multienzyme Complexes
|
Concept
|
Green Fluorescent Proteins
|
Concept
|
Reverse Transcriptase Polymerase Chain Reaction
|
Concept
|
Protease Inhibitors
|
Concept
|
Population Surveillance
|
Concept
|
HL-60 Cells
|
Concept
|
Histone Deacetylase Inhibitors
|
Concept
|
Disclosure
|
Concept
|
Washington
|
Concept
|
Models, Genetic
|
Concept
|
Optic Nerve Glioma
|
Concept
|
Retinoblastoma
|
Concept
|
Meningeal Neoplasms
|
Concept
|
Rhabdomyosarcoma
|
Concept
|
Smad4 Protein
|
Concept
|
Chromosomes, Human, Pair 19
|
Concept
|
G1 Phase
|
Concept
|
Genetic Carrier Screening
|
Concept
|
Luciferases
|
Concept
|
Parental Consent
|
Concept
|
K562 Cells
|
Concept
|
Carcinoma, Hepatocellular
|
Concept
|
Genetic Counseling
|
Concept
|
Electron Spin Resonance Spectroscopy
|
Concept
|
Binding Sites
|
Concept
|
Mass Screening
|
Concept
|
Language Development Disorders
|
Concept
|
Chromosomes, Human, Pair 3
|
Concept
|
Cell Transformation, Neoplastic
|
Concept
|
Nuclear Localization Signals
|
Concept
|
Ubiquitin-Conjugating Enzymes
|
Concept
|
Carcinoma, Renal Cell
|
Concept
|
Microcephaly
|
Concept
|
Rare Diseases
|
Concept
|
Receptors, Cell Surface
|
Concept
|
Philadelphia Chromosome
|
Concept
|
Medical Oncology
|
Concept
|
Information Storage and Retrieval
|
Concept
|
Patient Care Team
|
Concept
|
Telomerase
|
Concept
|
Fluorescent Antibody Technique
|
Concept
|
TNF Receptor-Associated Factor 2
|
Concept
|
Genes, X-Linked
|
Concept
|
Tandem Repeat Sequences
|
Concept
|
Disease Progression
|
Concept
|
Pyrazoles
|
Concept
|
Intestinal Polyposis
|
Concept
|
Chromosomal Instability
|
Concept
|
Pharmacogenetics
|
Concept
|
Cadherins
|
Concept
|
National Library of Medicine (U.S.)
|
Concept
|
Health Knowledge, Attitudes, Practice
|
Concept
|
Sensitivity and Specificity
|
Concept
|
Intensive Care, Neonatal
|
Concept
|
PAX5 Transcription Factor
|
Concept
|
Ganglioglioma
|
Concept
|
Ukraine
|
Concept
|
DNA, Complementary
|
Concept
|
Leukemia, Myeloid
|
Concept
|
Polymorphism, Single Nucleotide
|
Concept
|
Registries
|
Concept
|
Cohort Studies
|
Concept
|
Access to Information
|
Concept
|
Ubiquitin Thiolesterase
|
Concept
|
Antineoplastic Agents
|
Concept
|
Databases, Genetic
|
Concept
|
Leukemia
|
Concept
|
Sample Size
|
Concept
|
Rhabdoid Tumor
|
Concept
|
Calcium
|
Concept
|
Laboratories
|
Concept
|
Klinefelter Syndrome
|
Concept
|
Acute Disease
|
Concept
|
Hydrogen Peroxide
|
Concept
|
Colorectal Neoplasms
|
Concept
|
DNA Copy Number Variations
|
Concept
|
Mitomycin
|
Concept
|
Blotting, Western
|
Concept
|
Lymphoma
|
Concept
|
Kinetochores
|
Concept
|
4-Nitroquinoline-1-oxide
|
Concept
|
Chromosomes, Human, Pair 5
|
Concept
|
Prevalence
|
Concept
|
Case-Control Studies
|
Concept
|
Mutagenesis
|
Concept
|
Patient Compliance
|
Concept
|
Drosophila Proteins
|
Concept
|
Genes, myc
|
Concept
|
Leukemia, Myeloid, Acute
|
Concept
|
Patient Preference
|
Concept
|
Chromosomes, Human, Pair 21
|
Concept
|
Reproducibility of Results
|
Concept
|
Chromosomes, Human, Pair 8
|
Concept
|
Decision Support Systems, Clinical
|
Concept
|
Sertoli-Leydig Cell Tumor
|
Concept
|
Diseases in Twins
|
Concept
|
Neoplasms, Radiation-Induced
|
Concept
|
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
|
Concept
|
Prospective Studies
|
Concept
|
Dose-Response Relationship, Radiation
|
Concept
|
Kidney Neoplasms
|
Concept
|
Radiation-Sensitizing Agents
|
Concept
|
Succinate Dehydrogenase
|
Concept
|
Adenomatous Polyposis Coli
|
Concept
|
Receptor, trkB
|
Concept
|
Infant, Newborn
|
Concept
|
Sequence Homology, Nucleic Acid
|
Concept
|
Proto-Oncogene Proteins c-ret
|
Concept
|
Genome-Wide Association Study
|
Concept
|
Models, Molecular
|
Concept
|
5'-Nucleotidase
|
Concept
|
Chromosome Aberrations
|
Concept
|
Empathy
|
Concept
|
Surveys and Questionnaires
|
Concept
|
Sin3 Histone Deacetylase and Corepressor Complex
|
Concept
|
Enzyme Inhibitors
|
Concept
|
Multilingualism
|
Concept
|
Social Responsibility
|
Concept
|
Neurilemmoma
|
Concept
|
Models, Theoretical
|
Concept
|
Breast Neoplasms
|
Concept
|
Chromosome Deletion
|
Concept
|
Oligonucleotide Array Sequence Analysis
|
Concept
|
Growth Disorders
|
Concept
|
B-Lymphocytes
|
Concept
|
Pheochromocytoma
|
Concept
|
Practice Patterns, Physicians'
|
Concept
|
DNA, Circular
|
Concept
|
Stomach Neoplasms
|
Concept
|
Bone Neoplasms
|
Concept
|
Fusion Proteins, bcr-abl
|
Concept
|
Oligodendroglioma
|
Concept
|
Enhancer Elements, Genetic
|
Concept
|
Translocation, Genetic
|
Concept
|
Genetics, Medical
|
Concept
|
Genetic Predisposition to Disease
|
Concept
|
Disease Management
|
Concept
|
Health Personnel
|
Concept
|
Pathology, Molecular
|
Concept
|
Glioma
|
Concept
|
Adenoma
|
Concept
|
Prostate-Specific Antigen
|
Concept
|
Dose-Response Relationship, Drug
|
Concept
|
Cysteine Endopeptidases
|
Concept
|
Logistic Models
|
Concept
|
Meningioma
|
Concept
|
Chromosomes, Human, Pair 7
|
Concept
|
Mice
|
Concept
|
Language
|
Concept
|
Kv Channel-Interacting Proteins
|
Concept
|
Arthropods
|
Concept
|
Clinical Trials as Topic
|
Concept
|
Segmental Duplications, Genomic
|
Concept
|
Chromosomes, Human, Pair 6
|
Concept
|
DNA Primers
|
Concept
|
Cyclin-Dependent Kinase 4
|
Concept
|
Models, Biological
|
Concept
|
Physicians, Family
|
Concept
|
Germ-Line Mutation
|
Concept
|
Bone Morphogenetic Protein Receptors, Type I
|
Concept
|
Adenocarcinoma
|
Concept
|
Proto-Oncogene Proteins c-met
|
Concept
|
Research Personnel
|
Concept
|
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
|
Concept
|
Histone Deacetylases
|
Concept
|
Genes, Fungal
|
Concept
|
Point Mutation
|
Concept
|
Hemocyanins
|
Concept
|
Test Anxiety Scale
|
Concept
|
Length of Stay
|
Concept
|
Polymerase Chain Reaction
|
Concept
|
Proteasome Endopeptidase Complex
|
Concept
|
United States
|
Concept
|
Probability
|
Concept
|
Protein Conformation
|
Concept
|
Hodgkin Disease
|
Concept
|
Parathyroid Hormone
|
Concept
|
Antigens, Nuclear
|
Concept
|
Gene Deletion
|
Concept
|
Ependymoma
|
Concept
|
Risk Assessment
|
Concept
|
Skin Neoplasms
|
Concept
|
In Situ Hybridization, Fluorescence
|
Concept
|
Delivery of Health Care
|
Concept
|
Mutation, Missense
|
Concept
|
Risk
|
Concept
|
MicroRNAs
|
Concept
|
Risk Factors
|
Concept
|
Glutathione S-Transferase pi
|
Concept
|
Promoter Regions, Genetic
|
Concept
|
Eye Enucleation
|
Concept
|
Copper
|
Concept
|
INDEL Mutation
|
Concept
|
Gene Duplication
|
Concept
|
Retinal Neoplasms
|
Concept
|
Base Sequence
|
Concept
|
Osteosarcoma
|
Concept
|
Chromosome Breakpoints
|
Concept
|
Follow-Up Studies
|
Concept
|
Zebrafish
|
Concept
|
Histone-Lysine N-Methyltransferase
|
Concept
|
Siblings
|
Concept
|
Carcinoma, Small Cell
|
Concept
|
Immunohistochemistry
|
Concept
|
Peutz-Jeghers Syndrome
|
Concept
|
Mammography
|
Concept
|
Larva
|
Concept
|
Nutritional Status
|
Concept
|
Chromosomes, Human, Pair 2
|
Concept
|
Antibiotics, Antineoplastic
|
Concept
|
DNA Transposable Elements
|
Concept
|
Gastrointestinal Neoplasms
|
Concept
|
Immunoblotting
|
Concept
|
Protein Array Analysis
|
Concept
|
Conserved Sequence
|
Concept
|
Cytogenetic Analysis
|
Concept
|
Eye
|
Concept
|
Neoplasm Recurrence, Local
|
Concept
|
Mutagenesis, Insertional
|
Concept
|
Mice, Inbred C57BL
|
Concept
|
Utah
|
Concept
|
Chromosomes, Human, Pair 9
|
Concept
|
Intestinal Neoplasms
|
Concept
|
Retrospective Studies
|
Concept
|
Indians, North American
|
Concept
|
Models, Statistical
|
Concept
|
Cerebellar Neoplasms
|
Concept
|
Adenocarcinoma, Mucinous
|
Concept
|
Liver Neoplasms
|
Concept
|
Loss of Heterozygosity
|
Concept
|
T-Lymphocytes
|
Concept
|
Physicians
|
Concept
|
Medulloblastoma
|
Concept
|
Soft Tissue Neoplasms
|
Concept
|
Oxygen
|
Concept
|
Truth Disclosure
|
Concept
|
Germany
|
Concept
|
Antigens, CD
|
Concept
|
Professional-Family Relations
|
Concept
|
Neuroblastoma
|
Concept
|
Mollusca
|
Concept
|
Disease
|
Concept
|
Limb Deformities, Congenital
|
Concept
|
Testicular Neoplasms
|
Concept
|
fms-Like Tyrosine Kinase 3
|
Concept
|
G2 Phase
|
Concept
|
Nucleic Acid Conformation
|
Concept
|
Bile Acids and Salts
|
Concept
|
Intestine, Small
|
Concept
|
Xenograft Model Antitumor Assays
|
Concept
|
Severity of Illness Index
|
Concept
|
RNA, Messenger
|
Concept
|
Glutathione Transferase
|
Concept
|
Neurofibromatoses
|
Concept
|
Critical Care
|
Concept
|
Microsatellite Instability
|
Academic Article
|
BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children.
|
Academic Article
|
Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs.
|
Academic Article
|
A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2.
|
Academic Article
|
Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject.
|
Academic Article
|
Is Whole-Exome Sequencing an Ethically Disruptive Technology? Perspectives of Pediatric Oncologists and Parents of Pediatric Patients With Solid Tumors.
|
Academic Article
|
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
|
Academic Article
|
50 Years Ago in The Journal of Pediatrics: Adrenocortical Neoplasms with Hemihypertrophy, Brain Tumors, and Other Disorders.
|
Academic Article
|
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
Academic Article
|
Portero versus portador: Spanish interpretation of genomic terminology during whole exome sequencing results disclosure.
|
Academic Article
|
Genome-wide sequencing in acutely ill infants: genomic medicine's critical application?
|
Concept
|
Clinical Decision-Making
|
Concept
|
Everolimus
|
Concept
|
Bortezomib
|
Concept
|
MutL Protein Homolog 1
|
Concept
|
Mismatch Repair Endonuclease PMS2
|
Concept
|
Oncologists
|
Concept
|
Pathologists
|
Concept
|
Loss of Function Mutation
|
Concept
|
Circulating Tumor DNA
|
Concept
|
ATPases Associated with Diverse Cellular Activities
|
Concept
|
Zinc Finger Protein Gli3
|
Concept
|
DCC Receptor
|
Concept
|
Watchful Waiting
|
Concept
|
Haploinsufficiency
|
Concept
|
Research Report
|
Concept
|
Chromosome Duplication
|
Concept
|
Molecular Sequence Annotation
|
Concept
|
Support Vector Machine
|
Concept
|
Multiplex Polymerase Chain Reaction
|
Concept
|
Real-Time Polymerase Chain Reaction
|
Concept
|
Peroxiredoxin III
|
Concept
|
Zonula Occludens-2 Protein
|
Concept
|
Minichromosome Maintenance Complex Component 7
|
Concept
|
Apc1 Subunit, Anaphase-Promoting Complex-Cyclosome
|
Concept
|
Data Curation
|
Academic Article
|
A brief history of human disease genetics.
|
Academic Article
|
Ancestry-specific predisposing germline variants in cancer.
|
Academic Article
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Genomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1-mutant soft-tissue sarcoma of childhood.
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Importance of Population-Based Cancer Risk Information in the Care of Patients With Rare Genetic Disorders.
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Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome.
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FOCAD Indel in a Family With Juvenile Polyposis Syndrome.
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Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
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