2020
Primary superficial synovial sarcoma: clinical and histopathological characteristics in eight cases with molecular confirmation
Li P, Laskin W, Wang W, Demicco EG, Panse G. Primary superficial synovial sarcoma: clinical and histopathological characteristics in eight cases with molecular confirmation. Journal Of Cutaneous Pathology 2020, 48: 263-268. PMID: 32996614, DOI: 10.1111/cup.13887.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultBiomarkers, TumorChromosomes, Human, Pair 18Chromosomes, Human, XFemaleHumansMaleMiddle AgedNeoplasm ProteinsSarcoma, SynovialSkin NeoplasmsTranslocation, GeneticConceptsSynovial sarcomaEpithelial membrane antigenAverage patient agePatient experienced recurrenceAverage tumor sizeDeep soft tissuesKeratin AE1/AE3AE1/AE3Spindle cell neoplasmDermis/subcutisMolecular confirmationAdditional radiotherapyCurative excisionExperienced recurrenceMetastatic diseasePatient ageHistopathological characteristicsTumor sizeCell sarcomaCell neoplasmsLarge seriesMembrane antigenSubcutaneous tissueSarcomaYoung adultsDecreased copy‐neutral loss of heterozygosity in African American colorectal cancers
Augustus GJ, Xicola RM, Llor X, Ellis NA. Decreased copy‐neutral loss of heterozygosity in African American colorectal cancers. Genes Chromosomes And Cancer 2020, 59: 454-464. PMID: 32293075, PMCID: PMC8045478, DOI: 10.1002/gcc.22851.Peer-Reviewed Original ResearchMeSH KeywordsAgedBlack or African AmericanChromosomes, Human, Pair 18Colorectal NeoplasmsDNA Copy Number VariationsFemaleHumansLoss of HeterozygosityMaleMiddle Aged
2018
Association of Cell-Free DNA Tumor Fraction and Somatic Copy Number Alterations With Survival in Metastatic Triple-Negative Breast Cancer
Stover DG, Parsons HA, Ha G, Freeman SS, Barry WT, Guo H, Choudhury AD, Gydush G, Reed SC, Rhoades J, Rotem D, Hughes ME, Dillon DA, Partridge AH, Wagle N, Krop IE, Getz G, Golub TR, Love JC, Winer EP, Tolaney SM, Lin NU, Adalsteinsson VA. Association of Cell-Free DNA Tumor Fraction and Somatic Copy Number Alterations With Survival in Metastatic Triple-Negative Breast Cancer. Journal Of Clinical Oncology 2018, 36: jco.2017.76.003. PMID: 29298117, PMCID: PMC5815405, DOI: 10.1200/jco.2017.76.0033.Peer-Reviewed Original ResearchConceptsMetastatic triple-negative breast cancerTriple-negative breast cancerPrimary triple-negative breast cancerTumor fractionSomatic copy number alterationsCell-free DNABreast cancerSingle tertiary care institutionCopy number alterationsRetrospective cohort studySpecific somatic copy number alterationsTertiary care institutionNovel therapeutic approachesNumber alterationsCfDNA tumor fractionMetastatic survivalPrior chemotherapyTNBC cohortMetastatic settingCohort studyOverall survivalCancer Genome AtlasClinicopathologic factorsWorse survivalPrimary tumor
2017
Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18
Kosiv KA, Gossett JM, Bai S, Collins RT. Congenital Heart Surgery on In-Hospital Mortality in Trisomy 13 and 18. 2017, 140: e20170772. PMID: 29046387, DOI: 10.1542/peds.2017-0772.Peer-Reviewed Original ResearchConceptsCongenital heart surgeryCongenital heart diseaseHospital mortalityHeart surgeryPediatric Health Information System databaseTrisomy 13Health Information System databaseIn-Hospital MortalityLength of stayDays of ageHospital readmissionSurgical repairStudy cohortFemale sexHeart diseaseInformation System databaseMost centersTrisomy 18Select casesInfantsMortalityOlder ageSurgerySystem databaseT18
2014
Genome-Wide Association Study of Copy Number Variations (CNVs) with Opioid Dependence
Li D, Zhao H, Kranzler HR, Li MD, Jensen KP, Zayats T, Farrer LA, Gelernter J. Genome-Wide Association Study of Copy Number Variations (CNVs) with Opioid Dependence. Neuropsychopharmacology 2014, 40: 1016-1026. PMID: 25345593, PMCID: PMC4330517, DOI: 10.1038/npp.2014.290.Peer-Reviewed Original ResearchMeSH Keywordsalpha CateninChromosome DeletionChromosome DisordersChromosomes, Human, Pair 18DNA Copy Number VariationsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLeukocyte Common AntigensMaleMeta-Analysis as TopicOpioid-Related DisordersReceptor-Like Protein Tyrosine Phosphatases, Class 2ConceptsCopy number variationsAssociation studiesNumber variationsGenome-wide association studiesWide association studyUnique copy number variationsCommon copy number variationFirst GWASHarbor genesMissing heritabilityHuman genomeGenomic variationBiological importanceGenomeGenesGenetic risk factorsHeritabilitySubstance dependence riskGWASDuplicationDeletionReplicationPolymorphismVariationSmall proportion
2013
Both CpG Methylation and Activation-Induced Deaminase Are Required for the Fragility of the Human bcl-2 Major Breakpoint Region: Implications for the Timing of the Breaks in the t(14;18) Translocation
Cui X, Lu Z, Kurosawa A, Klemm L, Bagshaw AT, Tsai AG, Gemmell N, Müschen M, Adachi N, Hsieh CL, Lieber MR. Both CpG Methylation and Activation-Induced Deaminase Are Required for the Fragility of the Human bcl-2 Major Breakpoint Region: Implications for the Timing of the Breaks in the t(14;18) Translocation. Molecular And Cellular Biology 2013, 33: 947-957. PMID: 23263985, PMCID: PMC3623081, DOI: 10.1128/mcb.01436-12.Peer-Reviewed Original ResearchB-LymphocytesCell LineChromosome BreakpointsChromosomes, Human, Pair 14Chromosomes, Human, Pair 18CpG IslandsCytidine DeaminaseDNADNA MethylationDNA-Binding ProteinsEndonucleasesGene Knockout TechniquesGenes, bcl-2Homeodomain ProteinsHumansNuclear ProteinsProto-Oncogene Proteins c-bcl-2Translocation, Genetic
2010
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
Shimomura Y, Agalliu D, Vonica A, Luria V, Wajid M, Baumer A, Belli S, Petukhova L, Schinzel A, Brivanlou A, Barres B, Christiano A. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature 2010, 464: 1043-1047. PMID: 20393562, PMCID: PMC3046868, DOI: 10.1038/nature08875.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsbeta CateninCell DifferentiationCell LineCell ProliferationChick EmbryoChromosome MappingChromosomes, Human, Pair 18Genes, DominantGenes, ReporterHairHair FollicleHumansHypotrichosisIntracellular Signaling Peptides and ProteinsMembrane GlycoproteinsMembrane ProteinsMiceMutant ProteinsNeuronsPoint MutationScalpSignal TransductionSkinSpinal CordStem CellsWnt ProteinsXenopus laevisXenopus ProteinsConceptsHereditary hypotrichosis simplexSignal transduction pathwaysHypotrichosis simplexMesenchymal cell compartmentGenetic linkage analysisNovel Wnt inhibitorsMembrane-bound glycoproteinTransduction pathwaysHuman hair folliclesLinkage analysisAPCDD1Functional studiesHair folliclesWnt inhibitorsCell compartmentDowny hairsGenesImportant componentThick hairPathwayHairGlycoproteinCompartmentsDegenerative processFamily
2005
Rapid array‐based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23)
Drazinic CM, Ercan‐Sencicek A, Gault LM, Hisama FM, Qumsiyeh MB, Nowak NJ, Cubells JF, State MW. Rapid array‐based genomic characterization of a subtle structural abnormality: A patient with psychosis and der(18)t(5;18)(p14.1;p11.23). American Journal Of Medical Genetics Part A 2005, 134A: 282-289. PMID: 15754353, DOI: 10.1002/ajmg.a.30616.Peer-Reviewed Original ResearchMeSH KeywordsChromosome BandingChromosomes, Artificial, BacterialChromosomes, Human, Pair 18Chromosomes, Human, Pair 5FemaleHumansIn Situ Hybridization, FluorescenceKaryotypingMagnetic Resonance ImagingMiddle AgedNucleic Acid HybridizationPolymorphism, Single NucleotidePsychotic DisordersTranslocation, GeneticConceptsBacterial artificial chromosomeChromosome 18Molecular cytogenetic mappingSingle nucleotide polymorphism arrayArray-based copy number analysisCytogenetic mappingNucleotide polymorphism arrayCopy number analysisArray-based methodsSubtle chromosomal abnormalitiesSNP chipArtificial chromosomesChromosomal intervalChromosomal rearrangementsDerivative chromosome 18Array findingsSNP arrayGenomic characterizationLinkage analysisArray-based experimentsPolymorphism array
2003
Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype
State MW, Greally JM, Cuker A, Bowers PN, Henegariu O, Morgan TM, Gunel M, DiLuna M, King RA, Nelson C, Donovan A, Anderson GM, Leckman JF, Hawkins T, Pauls DL, Lifton RP, Ward DC. Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotype. Proceedings Of The National Academy Of Sciences Of The United States Of America 2003, 100: 4684-4689. PMID: 12682296, PMCID: PMC153616, DOI: 10.1073/pnas.0730775100.Peer-Reviewed Original Research
2000
Cytogenetical diagnosis in paraffin‐embedded fetoplacental tissue using comparative genomic hybridization
Ozcan T, Burki N, Parkash V, Huang X, Pejovic T, Mahoney M, Ward D. Cytogenetical diagnosis in paraffin‐embedded fetoplacental tissue using comparative genomic hybridization. Prenatal Diagnosis 2000, 20: 41-44. PMID: 10701850, DOI: 10.1002/(sici)1097-0223(200001)20:1<41::aid-pd742>3.0.co;2-0.Peer-Reviewed Original ResearchChromosome AberrationsChromosomes, Human, Pair 13Chromosomes, Human, Pair 18Chromosomes, Human, Pair 2Chromosomes, Human, Pair 21Chromosomes, Human, Pair 6Cytogenetic AnalysisDown SyndromeFemaleGene DeletionHumansIsochromosomesKaryotypingNucleic Acid HybridizationParaffinPlacentaPregnancyTissue EmbeddingTrisomy
1998
Detection of the SYT-SSX chimeric RNA of synovial sarcoma in paraffin-embedded tissue and its application in problematic cases.
Argani P, Zakowski M, Klimstra D, Rosai J, Ladanyi M. Detection of the SYT-SSX chimeric RNA of synovial sarcoma in paraffin-embedded tissue and its application in problematic cases. Modern Pathology 1998, 11: 65-71. PMID: 9556426.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedChromosomes, Human, Pair 18Diagnosis, DifferentialFemaleHead and Neck NeoplasmsHumansImmunohistochemistryKeratinsMaleMolecular Probe TechniquesNeoplasm ProteinsParaffin EmbeddingPolymerase Chain ReactionProteinsProto-Oncogene ProteinsRecombinant Fusion ProteinsRepressor ProteinsRNA, NeoplasmSarcoma, SynovialSkin NeoplasmsThoracic NeoplasmsTranscription, GeneticTranslocation, GeneticX ChromosomeConceptsSynovial sarcomaMalignant solitary fibrous tumorSkin adnexal tumorsThymus-like differentiationSpindle epithelial tumorSolitary fibrous tumorSpindle cell tumorsSYT-SSXReverse-transcriptase polymerase chain reaction assayParaffin-embedded tissuesPolymerase chain reaction assayAdnexal tumorsFibrous tumorEpithelial tumorsCell tumorsChimeric RNAsRNA transcriptsTarget sequenceTumorThoracic regionSarcomaSubcutaneous tissue
1997
A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1
Breschel T, McInnis M, Margolis R, Sirugo G, Corneliussen B, Simpson S, McMahon F, MacKinnon D, Xu J, Pleasant N, Huo Y, Ashworth R, Grundstrom C, Grundstrom T, Kidd K, DePaulo J, Ross C. A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1. Human Molecular Genetics 1997, 6: 1855-1863. PMID: 9302263, DOI: 10.1093/hmg/6.11.1855.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBase SequenceBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsBipolar DisorderBlotting, SouthernCell LineChromosomes, Human, Pair 18Cloning, MolecularDNA-Binding ProteinsFemaleGene FrequencyHelix-Loop-Helix MotifsHumansIntronsMaleMolecular Sequence DataPedigreeSequence AnalysisTCF Transcription FactorsTrans-ActivatorsTranscription Factor 4Transcription Factor 7-Like 2 ProteinTranscription FactorsTrinucleotide RepeatsConceptsCEPH reference pedigreesSouthern blot analysisReference pedigreesUnstable alleleDNA binding proteinTriplet repeat mutationBlot analysisCTG repeatsTranscriptional regulationGenomic digestsHuman chromosomesKb cloneStable allelesCandidate genesAbnormal phenotypeBinding proteinRepeatsRepeat lociBipolar pedigreesGenesChromosome 18q21.1Repeat mutationsSomatic mutationsIntronsAllelesDetection of a large CTG/CAG trinucleotide repeat expansion in a Danish schizophrenia kindred
Sirugo G, Pakstis A, Kidd K, Matthysse S, Levy D, Holzman P, Párnas J, McInnis M, Breschel T, Ross C. Detection of a large CTG/CAG trinucleotide repeat expansion in a Danish schizophrenia kindred. American Journal Of Medical Genetics 1997, 74: 546-548. PMID: 9342210, DOI: 10.1002/(sici)1096-8628(19970919)74:5<546::aid-ajmg19>3.0.co;2-c.Peer-Reviewed Original ResearchAllelesChromosomes, Human, Pair 18DenmarkGenetic MarkersHumansPedigreeSchizophreniaTrinucleotide RepeatsFirst-trimester growth restriction and fetal aneuploidy: The effect of type of aneuploidy and gestational age
Bahado-Singh R, Lynch L, Deren O, Morroti R, Copel J, Mahoney M, Williams J. First-trimester growth restriction and fetal aneuploidy: The effect of type of aneuploidy and gestational age. American Journal Of Obstetrics And Gynecology 1997, 176: 976-980. PMID: 9166154, DOI: 10.1016/s0002-9378(97)70388-0.Peer-Reviewed Original ResearchMeSH KeywordsAneuploidyChorionic Villi SamplingChromosomes, Human, Pair 18Crown-Rump LengthDown SyndromeFemaleFetal Growth RetardationGestational AgeHumansLogistic ModelsPregnancyTrisomyConceptsCrown-rump lengthGestational ageTrisomy 18First trimester fetal growthFirst-trimester crown-rump lengthLength shorteningFirst-trimester growth restrictionLast menstrual periodReceiver operator characteristic curveFirst-trimester fetusesPrenatal diagnosis centerWeeks' gestationRisk pregnanciesFetal growthAneuploidy riskControl fetusesGrowth restrictionMenstrual periodNormal groupNormal fetusesTrimester fetusesAneuploid fetusesTrisomy 21Trisomy 13Down syndrome
1988
Trisomy 18 associated with ectopia cordis and occipital meningocele
Bick D, Markowitz R, Horwich A, Opitz J, Reynolds J. Trisomy 18 associated with ectopia cordis and occipital meningocele. American Journal Of Medical Genetics 1988, 30: 805-810. PMID: 3189399, DOI: 10.1002/ajmg.1320300313.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleChromosomes, Human, Pair 18FemaleHeart Defects, CongenitalHumansInfant, NewbornMeningoceleTrisomy
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