2014
Traces of medieval migrations in a socially stratified population from Northern Italy. Evidence from uniparental markers and deep-rooted pedigrees
Boattini A, Sarno S, Pedrini P, Medoro C, Carta M, Tucci S, Ferri G, Alù M, Luiselli D, Pettener D. Traces of medieval migrations in a socially stratified population from Northern Italy. Evidence from uniparental markers and deep-rooted pedigrees. Heredity 2014, 114: 155-162. PMID: 25204305, PMCID: PMC4815625, DOI: 10.1038/hdy.2014.77.Peer-Reviewed Original ResearchMeSH KeywordsChromosomes, Human, YDNA, MitochondrialGenetics, PopulationGenotypeHuman MigrationHumansItalyMaleMutation RatePedigreeSequence Analysis, DNAWhite PeopleConceptsUniparental markersEuropean demographic historyGermanic populationMedieval migrationsPeculiar institutionHistorical evidenceTentative datingMiddle AgesPatrilineal descentY-STR profilesSan GiovanniMigration periodY-STR mutation ratesMaternal pointDemographic historySpecific episodesPaternal pedigreesNorthern ItalyCultural factorsStratified populationFounder familyDatingGiovanniHistoryEuropeInferring population structure and demographic history using Y-STR data from worldwide populations
Xu H, Wang CC, Shrestha R, Wang LX, Zhang M, He Y, Kidd JR, Kidd KK, Jin L, Li H. Inferring population structure and demographic history using Y-STR data from worldwide populations. Molecular Genetics And Genomics 2014, 290: 141-150. PMID: 25159112, DOI: 10.1007/s00438-014-0903-8.Peer-Reviewed Original ResearchConceptsEffective population sizeLarge genetic distancePopulation structureDemographic historyGenetic distanceLarge effective population sizesSmall effective population sizePopulation sizeLow genetic diversitySmall geographical rangesWorldwide population structureOrigin of populationsPopulation genetic studiesClose genetic affinityRecent common ancestorNon-African populationsSerial founder modelGood genetic materialClear geographic patternWorldwide populationEvolutionary historyGenetic diversityCommon ancestorEurasian populationsFuture forensic applications
2011
AlleleSeq: analysis of allele‐specific expression and binding in a network framework
Rozowsky J, Abyzov A, Wang J, Alves P, Raha D, Harmanci A, Leng J, Bjornson R, Kong Y, Kitabayashi N, Bhardwaj N, Rubin M, Snyder M, Gerstein M. AlleleSeq: analysis of allele‐specific expression and binding in a network framework. Molecular Systems Biology 2011, 7: msb201154. PMID: 21811232, PMCID: PMC3208341, DOI: 10.1038/msb.2011.54.Peer-Reviewed Original ResearchMeSH KeywordsAllelesCell LineChromosome MappingChromosomes, Human, XChromosomes, Human, YDatabases, GeneticDNA-Binding ProteinsGene Expression RegulationGene Regulatory NetworksGenome, HumanHumansMolecular Sequence AnnotationOligonucleotide Array Sequence AnalysisPolymorphism, Single NucleotideSequence Analysis, RNATranscription FactorsConceptsAllele-specific expressionGenome sequenceFunctional genomics data setsAllele-specific behaviorAllele-specific eventsDiploid genome sequenceChIP-seq data setsGenomic data setsGenomic sequence variantsPersonal genome sequencesAlignment of readsRNA-seqGenome ProjectPaternal alleleComputational pipelineReads mappingSequence variantsNetwork motifsVariation dataReference alleleAllelesReadsSequenceExpressionMaternally
2010
A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome
Rivkees SA, Hager K, Hosono S, Wise A, Li P, Rinder HM, Gruen JR. A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome. The Journal Of Clinical Endocrinology & Metabolism 2010, 96: 699-705. PMID: 21177792, PMCID: PMC3047225, DOI: 10.1210/jc.2010-1554.Peer-Reviewed Original ResearchConceptsX chromosomeInformative single nucleotide polymorphism (SNP) markersSingle nucleotide polymorphism (SNP) markersHigh-throughput assaysPolymorphism markersSingle nucleotide polymorphismsY chromosome materialRAS valuesBuccal swab DNAX chromosome abnormalitiesHigh-throughput testChromosomal mosaicismTurner syndromeDNAMarkersFemalesTS benefitSpecificityT detectionKaryotypeHomozygosityPolymorphismMosaicismAssaysLarge-scale studies
2007
Absence of Y chromosome in human placental site trophoblastic tumor
Hui P, Wang HL, Chu P, Yang B, Huang J, Baergen RN, Sklar J, Yang XJ, Soslow RA. Absence of Y chromosome in human placental site trophoblastic tumor. Modern Pathology 2007, 20: 1055-1060. PMID: 17643092, DOI: 10.1038/modpathol.3800941.Peer-Reviewed Original Research
2005
Spermatozoal nuclear determinants of reproductive outcome: implications for ART
Seli E, Sakkas D. Spermatozoal nuclear determinants of reproductive outcome: implications for ART. Human Reproduction Update 2005, 11: 337-349. PMID: 15863434, DOI: 10.1093/humupd/dmi011.Peer-Reviewed Original ResearchMeSH KeywordsChromosomes, Human, YFertilization in VitroHumansInfertility, MaleMaleSex Chromosome AberrationsSpermatozoaConceptsPaternal genomeEpigenetic regulationChromosome contentDNA strand breaksNuclear determinantsStrand breaksGenomeImportant functionsNuclear factorRecent findingsSpecific mechanismsReproductive outcomesExact mechanismNumerical abnormalitiesAssisted reproduction technology (ART) outcomesTreatment addressesReproductionMale factor infertilityY chromosome microdeletionsMale fertility potentialRegulationOocytesMechanismChromosome microdeletionsFactor infertility
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