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Gene DuplicationChromosome DuplicationChromosomesDNA ReplicationChromosome MappingChromosome BandingX ChromosomeChromosome AberrationsSex ChromosomesChromosomes, Human, Pair 1Chromosomes, HumanSegmental Duplications, GenomicChromosomes, BacterialChromosomes, Human, Pair 17Chromosomes, Human, Pair 7Chromosome SegregationChromosome DeletionChromosomes, Human, Pair 11Chromosomes, PlantChromosomes, Human, Pair 6Chromosomes, Human, Pair 9Evolution, MolecularChromosomes, Human, Pair 21Chromosomes, FungalChromosomes, Human, Pair 16Chromosomes, Human, Pair 22Chromosomes, Human, 6-12 and XChromosomes, Human, Pair 2Molecular Sequence DataChromosomes, Artificial, BacterialChromosomes, Human, XChromosome DisordersChromosomes, MammalianIn Situ Hybridization, FluorescenceChromosomes, Human, Pair 15Chromosomes, Human, Pair 10Chromosomes, Human, YKaryotypingChromosomes, Human, Pair 13Chromosomes, Human, Pair 4Chromosomes, Human, Pair 8Multigene FamilyChromosome PairingBase SequenceChromosomes, Human, Pair 19Chromosomes, Human, Pair 5Chromosomes, Human, Pair 12Chromosomes, Human, 1-3Chromosome BreakagePhylogenyChromosome PaintingChromosome InversionChromosomes, Human, Pair 14Genetic LinkageChromosomes, Human, Pair 18Chromosomes, Artificial, YeastChromosomes, Human, Pair 20Chromosomes, Human, 16-18Genes, DuplicateChromosomes, Human, 13-15Genetic MarkersChromosomes, Human, 21-22 and YRing ChromosomesRecombination, GeneticMutationAmino Acid SequenceTranslocation, GeneticCentromereChromosome PositioningModels, GeneticChromosomes, Human, 4-5X Chromosome InactivationSequence Analysis, DNAPhenotypeChromosomes, InsectMeiosisGene DosageMitosisAneuploidyPedigreeCloning, MolecularRepetitive Sequences, Nucleic AcidGenomeHybrid CellsAllelesChromosome StructuresSequence AlignmentTrisomyCrosses, GeneticGene RearrangementMetaphaseMicrosatellite RepeatsChromosomes, Human, 19-20Abnormalities, MultiplePolyploidyTandem Repeat SequencesDNASequence Homology, Nucleic AcidGenome, PlantBlotting, Southern

Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype. (41/99)

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Diversification of genes encoding granule-bound starch synthase in monocots and dicots is marked by multiple genome-wide duplication events. (42/99)

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Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes. (43/99)

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Status of HER2 amplification, polysomy 17 and histopathological features of 425 Pakistani breast cancer patients. (44/99)

HER2 gene amplification in invasive breast cancer is a robust predictive marker for response to transtuzumab therapy. This study was undertaken to measure concordance between immunohistochemistry (IHC) and FISH for HER2 gene amplification in invasive breast tumors, as well as the presence of polysomy 17 and possible correlation with demographics and histopathological variables, including ER and PR positivity. A total of 425 cases of infiltrating carcinoma of breast (99% IDC-NOS) were studied. HER2 over expression was tested by IHC and FISH methods. Association between IHC and FISH in both subsets was calculated by amplification ratio including polysomy 17. Out of 425 specimens, 128 (30%) were positive for HER2 amplification by FISH test, whereas only 78 (24%) tumors with 2+ expression showed amplification. In contrast, 39 (74%) demonstrated 3+ IHC score and HER2 gene amplification. The histological variables including tumor size, tumor type, and lymph node involvement did not influence the outcome of FISH analysis. The ER and PR status showed significantly greater positivity in patients negative for HER2 amplification. Polysomy 17 was detected in 23.7% patients and was positively associated with ER and PR expression (P= <0.05). Our study showed a concordance of 24% between 2+ IHC and FISH amplification, while in 3+ IHC cases the concordance was 74%. Significant links of HER2 amplification was seen with ER andPR negativity and higher tumor grade. In addition, non-significant correlations were noted with other variables like tumor type, size and lymph node status.  (+info)

A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family. (45/99)

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Rapid analysis of Saccharomyces cerevisiae genome rearrangements by multiplex ligation-dependent probe amplification. (46/99)

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Characterization of the chromosome 4 genes that affect fluconazole-induced disomy formation in Cryptococcus neoformans. (47/99)

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Promoter alteration causes transcriptional repression of the POMGNT1 gene in limb-girdle muscular dystrophy type 2O. (48/99)

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