PenetrancePedigreeGenes, DominantHeterozygoteMutationPhenotypeGenetic LinkageGenetic Predisposition to DiseaseOptic Atrophy, Hereditary, LeberY ChromosomeLod ScoreReceptors, Purinergic P2Y1AllelesGerm-Line MutationFamily HealthGenotypeDNA Mutational AnalysisGenetic TestingGenes, BRCA1Genes, ModifierModels, GeneticFounder EffectAge of OnsetHirschsprung DiseaseChromosome MappingHaplotypesHomozygoteGenes, RecessiveJewsGenetic HeterogeneityGene FrequencyGenetic Diseases, InbornMutation, MissenseGenes, BRCA2Dystonia Musculorum DeformansFamilySyndromeGenetic MarkersCrosses, GeneticHeterozygote DetectionDystoniaBRCA2 ProteinAmyloid Neuropathies, FamilialGenetic CounselingGenetic VariationPolymorphism, Single NucleotideAngiomatosisHemochromatosisRetinoblastomaDNA, MitochondrialSyndactylyProto-Oncogene Proteins c-retLikelihood FunctionsAbnormalities, MultipleMolecular Sequence DataCraniofacial AbnormalitiesEpistasis, GeneticGenetics, MedicalChromosomes, Human, Pair 19RNA, Transfer, IlePrealbuminCardiomyopathy, Hypertrophic, FamilialBone Morphogenetic Protein Receptors, Type IIMyoclonusNeoplastic Syndromes, HereditaryMice, TransgenicMice, Inbred C57BLBreast NeoplasmsPoint MutationInheritance PatternsExonsOptic Atrophies, HereditaryMicrosatellite RepeatsDystonic DisordersRetinitis PigmentosaTranscription FactorsDisease Models, AnimalBase SequenceParaganglioma, Extra-AdrenalGenetic Association StudiesOvarian NeoplasmsEye Abnormalities