2024
Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia
Cárdenas W, Conley A, Nagar S, Núñez-Ríos D, Jordan I, Lattig M. Ancestral origins of TYR and OCA2 gene mutations in oculocutaneous albinism from two admixed populations in Colombia. PLOS ONE 2024, 19: e0313777. PMID: 39556609, PMCID: PMC11573203, DOI: 10.1371/journal.pone.0313777.Peer-Reviewed Original ResearchConceptsAncestral originTYR haplotypeAdmixed populationsOCA2 geneOCA patientsOCA2 mutationsOculocutaneous albinismAdmixed American populationsDisease-Associated VariantsGlobal reference populationsAutosomal recessive oculocutaneous albinismNative American admixtureDisease-causing mutationsNative American originGene mutationsRecessive conditionColonization historyGenetic architectureGenetic admixtureMendelian diseasesCompound heterozygote patientsAffected family membersAssociation mappingSephardic Jewish originRecessive alleles
2013
Association between the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) rs4073366 polymorphism and ovarian hyperstimulation syndrome during controlled ovarian hyperstimulation
O’Brien T, Kalmin M, Harralson A, Clark A, Gindoff I, Simmens S, Frankfurter D, Gindoff P. Association between the luteinizing hormone/chorionic gonadotropin receptor (LHCGR) rs4073366 polymorphism and ovarian hyperstimulation syndrome during controlled ovarian hyperstimulation. Reproductive Biology And Endocrinology 2013, 11: 71. PMID: 23883350, PMCID: PMC3727944, DOI: 10.1186/1477-7827-11-71.Peer-Reviewed Original ResearchConceptsControlled ovarian hyperstimulationResponse to COHOvarian hyperstimulationLuteinizing hormone/chorionic gonadotropin receptorOvarian hyperstimulation syndromeDay 3 FSH levelsOHSS riskHyperstimulation syndromeLinkage disequilibriumIVF centerCarrier statusOHSSHyperstimulationPredictive of outcomeGenetic variationRecessive allelesResultsIncreasing ageFSH levelsProspective studyGonadotropin receptorsFunctional polymorphismsIncreased riskBackgroundThe aimDay 3C variant
1991
Establishment of Left‐Right Asymmetry in Vertebrates: Genetically Distinct Steps are Involved
Brueckner M, McGrath J, D'Eustachio P, Horwich A. Establishment of Left‐Right Asymmetry in Vertebrates: Genetically Distinct Steps are Involved. Novartis Foundation Symposia 1991, 162: 202-218. PMID: 1802643, DOI: 10.1002/9780470514160.ch12.Peer-Reviewed Original ResearchConceptsRestriction fragment length polymorphism (RFLP) markersFragment length polymorphism (AFLP) markersMouse chromosome 12Length polymorphism markersTiming of expressionLeft-right determinationLeft-right axisLeft-right asymmetryPositional cloningPolymorphism markersRecessive allelesGene productsPattern of inheritanceChromosome 12Developmental pathwaysLinkage analysisCardiac tubeFunction mutationsGenesMolecular analysisDevelopmental stepsFirst organAffected embryosVertebratesDistinct phenotypes
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