2024
Genetic diversity of North African populations in the 17q21 genomic region
Messaoudi M, Pakstis A, Ezzaher T, Boussetta S, Ben Ammar Elgaaied A, Kidd K, Cherni L. Genetic diversity of North African populations in the 17q21 genomic region. Mammalian Genome 2024, 35: 445-460. PMID: 38965090, DOI: 10.1007/s00335-024-10051-6.Peer-Reviewed Original ResearchNorth African populationsSingle-nucleotide polymorphismsGenetic structureGenetic diversityDemographic history of human populationsHaplotype analysisAutosomal single-nucleotide polymorphismsHistory of human populationsAfrican populationsSouthwest Asian populationsComplex demographic historyHeterogeneous genetic structureNorth AfricaAutosomal markersDemographic historyGenetic flowGenomic regionsGenome ProjectGenetic compositionGenetic heterogeneityGlobal contextHistory of North AfricaMigration processNorth AfricansCultural factors
2011
Rare BRCA1 haplotypes including 3’UTR SNPs associated with breast cancer risk
Pelletier C, Speed WC, Paranjape T, Keane K, Blitzblau R, Hollestelle A, Safavi K, van den Ouweland A, Zelterman D, Slack FJ, Kidd KK, Weidhaas JB. Rare BRCA1 haplotypes including 3’UTR SNPs associated with breast cancer risk. Cell Cycle 2011, 10: 90-99. PMID: 21191178, PMCID: PMC3048078, DOI: 10.4161/cc.10.1.14359.Peer-Reviewed Original ResearchConceptsGenetic markersRare haplotypesNew genetic markersBRCA1 3'UTRSequence mutationsMicroRNA bindingFunctional variantsSuch polymorphismsHaplotypesMutationsBRCA1Haplotype analysisPolymorphismSNPsRegion polymorphismsVariantsFunctional polymorphismsBreast cancer subtypesCancer subtypesMarkersBRCA1 haplotypeMiRNALarge populationBRCA1 mutationsBinding
1993
Genetic and Physical Mapping of the Treacher Collins Syndrome Locus with Respect to Loci in the Chromosome 5q3 Region
Jabs E, Li X, Lovett M, Yamaoka L, Taylor E, Speer M, Coss C, Cadle R, Hall B, Brown K, Kidd K, Dolganov G, Polymeropoulos M, Meyers D. Genetic and Physical Mapping of the Treacher Collins Syndrome Locus with Respect to Loci in the Chromosome 5q3 Region. Genomics 1993, 18: 7-13. PMID: 8276417, DOI: 10.1006/geno.1993.1420.Peer-Reviewed Original ResearchConceptsTCOF1 locusTreacher Collins syndrome locusLinkage analysisHighest maximum lod scorePhysical mapping dataOrder of lociCraniofacial developmental disorderMultipoint linkage analysisGenetic distancePhysical mappingYAC clonesCEPH familiesMaximum lod scoreSyndrome locusLociLOD scoreMapping dataHaplotype analysisTreacher Collins syndromeSyndrome familiesFamilyTCOF1Developmental disordersGenesClones