| Item Type | Name |
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Academic Article
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Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.
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Academic Article
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A case of infantile acute myelogenous leukemia with MLL-MLL10 fusion caused by insertion of 11q into 10p.
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Academic Article
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Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories.
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Academic Article
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HER-2/neu amplified breast cancers in South Carolina.
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Academic Article
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Section E6 of the ACMG technical standards and guidelines: chromosome studies for acquired abnormalities.
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Academic Article
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Developing a sustainable process to provide quality control materials for genetic testing.
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Academic Article
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Establishment of epidermal cell lines derived from the skin of the Atlantic bottlenose dolphin (Tursiops truncatus).
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Academic Article
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Abnormal fluorescence in situ hybridization analysis in collecting duct carcinoma.
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Academic Article
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Fluorescence in situ hybridization for detecting transitional cell carcinoma: implications for clinical practice.
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Academic Article
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Pediatric T-cell acute lymphoblastic leukemia with aberrations of both MLL loci.
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Academic Article
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Altered promoter usage characterizes monoallelic transcription arising with ERBB2 amplification in human breast cancers.
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Academic Article
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HER2 testing: a review of detection methodologies and their clinical performance.
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Academic Article
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Guidance for fluorescence in situ hybridization testing in hematologic disorders.
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Academic Article
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The genetics of bladder cancer: a cytogeneticist's perspective.
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Academic Article
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Tetraploidy and 5q deletion in myelodysplastic syndrome: a case report.
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Academic Article
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Mitochondrial disorders of DNA polymerase ? dysfunction: from anatomic to molecular pathology diagnosis.
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Academic Article
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The utility of fluorescence in situ hybridization (FISH) analysis in diagnosing graft versus host disease following orthotopic liver transplant.
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Academic Article
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Validation of fluorescence in situ hybridization using an analyte-specific reagent for detection of abnormalities involving the mixed lineage leukemia gene.
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Academic Article
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Cytogenetics caseload survey summary 2012.
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Academic Article
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Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays.
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Academic Article
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Mosaic duplication 1(q11q44) in an infant with nephroblastomatosis and mineralization of extraplacental membranes.
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Academic Article
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Detection of an apparent homozygous 3120G>A cystic fibrosis mutation on a routine carrier screen.
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Academic Article
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HER-2 fluorescence in situ hybridization: results from the survey program of the College of American Pathologists.
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Academic Article
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Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years.
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Academic Article
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Jumping translocation of 1q in BCR/ABL-positive acute lymphoblastic leukemia.
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Academic Article
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The Prothrombin 20209C>T Sequence Variant: To Test or Not to Test.
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Academic Article
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Multi-Site PCR-based CMV viral load assessment-assays demonstrate linearity and precision, but lack numeric standardization: a report of the association for molecular pathology.
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Academic Article
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Laboratory guideline for Turner syndrome.
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Academic Article
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College of American Pathologists/American College of Medical Genetics proficiency testing for constitutional cytogenomic microarray analysis.
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Academic Article
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American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities.
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Academic Article
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Clonal diversity analysis using SNP microarray: a new prognostic tool for chronic lymphocytic leukemia.
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Academic Article
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Association of age with fluorescence in situ hybridization abnormalities in multiple myeloma reveals higher rate of IGH translocations among older patients.
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Academic Article
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American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders.
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Concept
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Cytokines
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Concept
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Genes, Lethal
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Concept
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Age Factors
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Concept
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Karyotyping
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Concept
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Genes, erbB-2
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Concept
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Software
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Concept
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Long QT Syndrome
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Concept
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Chromosomes, Human, Pair 16
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Concept
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Tissue Fixation
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Concept
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Mitochondria
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Concept
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Incidence
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Concept
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Tumor Suppressor Protein p53
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Concept
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Introns
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Concept
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Cell Nucleus
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Concept
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Cell Division
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Concept
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Trisomy
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Concept
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Ear Neoplasms
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Concept
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Membrane Potentials
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Concept
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Microcephaly
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Concept
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Forkhead Transcription Factors
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Concept
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Fluorescent Dyes
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Concept
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Disease Progression
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Concept
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CD8-Positive T-Lymphocytes
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Concept
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Monosomy
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Concept
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Leber Congenital Amaurosis
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Concept
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Proto-Oncogenes
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Concept
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Genomics
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Concept
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Chromosome Banding
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Concept
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BK Virus
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Concept
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Genetic Testing
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Concept
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Trans-Activators
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Concept
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Chromosomes, Human
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Concept
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Cohort Studies
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Concept
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DNA, Mitochondrial
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Concept
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Cytomegalovirus Infections
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Concept
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Ubiquitin Thiolesterase
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Concept
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Cystoscopy
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Concept
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Laboratories
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Concept
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Chromosomes, Human, Pair 4
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Concept
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Fetal Death
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Concept
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DNA Copy Number Variations
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Concept
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Chromosomes, Human, Pair 10
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Concept
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Artificial Gene Fusion
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Concept
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Translocation, Genetic
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Concept
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Genetics, Medical
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Concept
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Genetic Predisposition to Disease
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Concept
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Spectral Karyotyping
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Concept
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Carcinoma, Transitional Cell
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Concept
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Epidermis
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Concept
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Founder Effect
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Concept
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Cell Line, Transformed
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Concept
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Endopeptidases
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Concept
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Adenocarcinoma
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Concept
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Transcription, Genetic
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Concept
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Leukocytes
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Concept
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Cytogenetic Analysis
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Concept
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Chromosomes, Human, Pair 9
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Concept
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Retrospective Studies
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Concept
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Paraffin Embedding
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Concept
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Polyomavirus Infections
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Concept
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Computational Biology
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Concept
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Genes, Neoplasm
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Concept
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Loss of Heterozygosity
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Concept
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SOXE Transcription Factors
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Concept
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Endolymphatic Sac
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Concept
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Bottle-Nosed Dolphin
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Concept
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Chromosomes, Human, Pair 22
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Concept
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Viral Load
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Concept
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Cell Proliferation
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Concept
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Genomic Imprinting
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Concept
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Urine
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Concept
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Keratins
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Concept
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Comparative Genomic Hybridization
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Concept
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Molecular Probes
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Concept
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PAX2 Transcription Factor
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Concept
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Chromosomes, Human, X
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Concept
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Fatal Outcome
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Concept
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Costa Rica
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Concept
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Chromosomes, Human, Pair 14
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Concept
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Chromosomes, Human, Pair 11
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Concept
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Core Binding Factor Alpha 2 Subunit
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Concept
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Liver Transplantation
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Concept
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Myeloid-Lymphoid Leukemia Protein
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Concept
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Cell Culture Techniques
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Concept
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Molecular Diagnostic Techniques
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Concept
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Chromosomes, Human, Pair 1
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Concept
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Electroretinography
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Concept
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Clone Cells
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Concept
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Turner Syndrome
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Concept
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Extraembryonic Membranes
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Concept
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Carcinoma, Renal Cell
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Concept
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Chromosomes, Human, Pair 5
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Concept
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Prevalence
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Concept
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Eosinophilia
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Concept
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Leukemia, Myeloid, Acute
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Concept
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Pulmonary Veins
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Concept
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Ether-A-Go-Go Potassium Channels
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Concept
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In Situ Hybridization
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Concept
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Cytogenetics
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Concept
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Evidence-Based Medicine
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Concept
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Proteomics
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Concept
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Cell Line
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Concept
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Chromosome Deletion
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Concept
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Polyploidy
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Concept
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Cytodiagnosis
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Concept
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In Situ Hybridization, Fluorescence
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Concept
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Janus Kinase 2
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Concept
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Risk Factors
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Concept
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Promoter Regions, Genetic
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Concept
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Cation Transport Proteins
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Concept
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Base Sequence
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Concept
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Alleles
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Concept
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Follow-Up Studies
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Concept
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Immunohistochemistry
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Concept
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Cytomegalovirus
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Concept
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Frameshift Mutation
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Concept
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Cell Line, Tumor
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Concept
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Molecular Sequence Data
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Concept
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Chromosomes, Human, Pair 13
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Concept
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Electrocardiography
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Concept
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Age Distribution
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Academic Article
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Evaluation of urovysion and cytology for bladder cancer detection: a study of 1835 paired urine samples with clinical and histologic correlation.
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Academic Article
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Clinical investigational studies for validation of a next-generation sequencing in vitro diagnostic device for cystic fibrosis testing.
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Academic Article
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"Low-Fat" Pseudoangiomatous Spindle Cell Lipoma: A Rare Variant With Loss of 13q14 Region.
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Academic Article
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A multicenter, cross-platform clinical validation study of cancer cytogenomic arrays.
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Academic Article
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Clinical utility of concurrent single-nucleotide polymorphism microarray on fresh tissue as a supplementary test in the diagnosis of renal epithelial neoplasms.
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Academic Article
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.
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Academic Article
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Comparison Between HER2, Estrogen Receptors and Progesterone Receptors in Primary Breast Carcinomas and Matched Lymph Node Metastases.
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Academic Article
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Urothelial carcinoma of donor origin in a kidney transplant patient.
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Academic Article
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Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.
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Academic Article
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Utility of Interphase FISH Panels for Routine Clinical Cytogenetic Evaluation of Chronic Lymphocytic Leukemia and Multiple Myeloma.
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Academic Article
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Chromothripsis in Two Patients With Renal Cell Carcinoma: A Case Series.
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Academic Article
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First Report of Prenatal Ascertainment of a Fetus With Homozygous Loss of the SOX10 Gene and Phenotypic Correlation by Autopsy Examination.
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Academic Article
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Authors' Reply.
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Academic Article
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Expression of renal cell markers and detection of 3p loss links endolymphatic sac tumor to renal cell carcinoma and warrants careful evaluation to avoid diagnostic pitfalls.
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Academic Article
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Assessing copy number aberrations and copy-neutral loss-of-heterozygosity across the genome as best practice: An evidence-based review from the Cancer Genomics Consortium (CGC) working group for chronic lymphocytic leukemia.
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Academic Article
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Whole-Genome Single Nucleotide Polymorphism Microarray for Copy Number and Loss of Heterozygosity Analysis in Tumors.
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Academic Article
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A high prevalence of biallelic RPE65 mutations in Costa Rican children with Leber congenital amaurosis and early-onset retinal dystrophy.
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Academic Article
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Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC).
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Academic Article
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Establishment and genomic characterization of a sporadic malignant peripheral nerve sheath tumor cell line.
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Academic Article
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Integrated genomic analysis using chromosomal microarray, fluorescence in situ hybridization and mate pair analyses: Characterization of a cryptic t(9;22)(p24.1;q11.2)/BCR-JAK2 in myeloid/lymphoid neoplasm with eosinophilia.
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Academic Article
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Near haploidization is a genomic hallmark which defines a molecular subgroup of giant cell glioblastoma.
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Academic Article
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Cryptic and atypical KMT2A-USP2 and KMT2A-USP8 rearrangements identified by mate pair sequencing in infant and childhood leukemia.
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Academic Article
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Assessing Genomic Copy Number Alterations as Best Practice for Renal Cell Neoplasia: An Evidence-Based Review from the Cancer Genomics Consortium Workgroup.
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Concept
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Neuropathology
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Concept
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Molecular Sequence Annotation
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Concept
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Chromothripsis
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Concept
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DNA Polymerase gamma
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Concept
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Transcriptional Regulator ERG
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Concept
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ERG1 Potassium Channel
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Academic Article
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Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
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Academic Article
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Clinical utility of chromosomal microarray in establishing clonality and high risk features in patients with Richter transformation.
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Academic Article
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Apparent coexistence of ETV6::RUNX1 and KMT2A::MLLT3 fusions due to a nonproductive KMT2A rearrangement in B-ALL.
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Academic Article
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Postmortem Diagnosis of the Proteus Syndrome by Next Generation Sequencing of Affected Brain Tissue.
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Academic Article
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Neuropathologic Findings in Galloway-Mowat Syndrome 3 With a Novel OSGEP Variant.
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Academic Article
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Novel high-risk acute myeloid leukemia subgroup with ERG amplification and Biallelic loss of TP53.
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