2025
P842: The significant contribution of maternal effect genes for recurrent pregnancy loss: Preliminary results from the pedigree analysis
Rao N, DiMaio M, Giner-Calabuig M, Schepisi L, Harvey K, Monkol L, Zhang H, Zhao C, Hongyan C, Kaufman O, Hall I, Lake N, Hendry C, Diadamo A, Jia A, Tal R, Li P, Taylor H, Reddy U, Zhang H, Jiang Y. P842: The significant contribution of maternal effect genes for recurrent pregnancy loss: Preliminary results from the pedigree analysis. Genetics In Medicine Open 2025, 3: 103211. DOI: 10.1016/j.gimo.2025.103211.Peer-Reviewed Original Research
2024
Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings
Cissé L, Bamba S, Diallo S, Ji W, Dembélé M, Yalcouyé A, Coulibaly T, Traoré I, Jeffries L, Diarra S, Maiga A, Diallo S, Nimaga K, Touré A, Traoré O, Kotioumbé M, Mis E, Cissé C, Guinto C, Fischbeck K, Khokha M, Lakhani S, Landouré G. Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings. Frontiers In Neurology 2024, 15: 1455467. PMID: 39385815, PMCID: PMC11461190, DOI: 10.3389/fneur.2024.1455467.Peer-Reviewed Original ResearchWhole-exome sequencingACMG criteriaProgressive myoclonic epilepsyProtein 3D structuresHomozygous missense variantRecessive inheritance patternCADD scoresAutosomal recessive inheritance patternSequence variantsMissense variantsGenomic researchExome sequencingGenetic analysisGenetic studiesPathogenic variantsPedigree analysisGenetic epidemiologyGenetic researchGenetic profileHeterogeneous neurological disordersInheritance patternSporadic formsACMGGroup of neurological disordersMyoclonic epilepsy
2018
Genetic Pedigree Analysis of the Pilot Breeding Program for the Rediscovered Galapagos Giant Tortoise from Floreana Island
Miller J, Quinzin M, Scheibe E, Ciofi C, Villalva F, Tapia W, Caccone A. Genetic Pedigree Analysis of the Pilot Breeding Program for the Rediscovered Galapagos Giant Tortoise from Floreana Island. Journal Of Heredity 2018, 109: 620-630. PMID: 29490038, DOI: 10.1093/jhered/esy010.Peer-Reviewed Original ResearchConceptsReproductive skewGalapagos giant tortoisesBreeding programsFloreana IslandGiant tortoisesAssortative matingSelf-sustaining wild populationsGenetic pedigree analysisMajority of progenyCaptive breeding programsSmall breeding groupsOrigin of individualsPedigree analysisLarge breeding programsFounding individualsWild populationsAllelic diversityGenetic diversityExtinct tortoisesGenetic variationGenetic analysisC. nigerPopulation sizeRelated individualsBreeding groups
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