{"doi":"10.1002/ajmg.1320670102","title":"Segregation analysis of Alzheimer pedigrees: Rare mendelian dominant mutation(s) explain a minority of early-onset cases","abstract":null,"journal":"American Journal of Medical Genetics","year":1996,"id":614982,"datarank":0.3596842909197557,"base_score":2.3978952727983707,"endowment":2.3978952727983707,"self_citation_contribution":0.3596842909197557,"citation_network_contribution":0.0,"self_endowment_contribution":0.3596842909197557,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":10,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1528434,"name":"D. 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Martinez","orcid":"0009-0001-6777-9202","position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Segregation analysis of Alzheimer pedigrees: Rare mendelian dominant mutation(s) explain a minority of early-onset cases","abstract":"Segregation analysis of Alzheimer disease (AD) in 92 families ascertained through early-onset ( < or = age 60 years) AD (EOAD) probands has been carried out, allowing for a mixture in AD inheritance among probands. The goal was to quantify the proportion of probands that could be explained by autosomal inheritance of a rare disease allele \"a\" at a Mendelian dominant gene (MDG). Our data provide strong evidence for a mixture of two distributions; AD transmission is fully explained by MDG inheritance in < 20% of probands. Male and female age-of-onset distributions are significantly different for \"AA\" but not for \"aA\" subjects. For \"aA\" subjects the estimated penetrance value was close to 1 by age 60. For \"AA\" subjects, it reaches, by age 90, 10% (males) and 30% (females). We show a clear cutoff in the posterior probability of being an MDG case.","is_dataset_classified":null,"base_score":2.3978952727983707,"endowment":2.3978952727983707,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"8678122","pmcid":null,"openalex_id":"https://openalex.org/W1985131991","authors":[],"funders":[],"total_grants":0,"fwci":1.3026,"citation_percentile":0.78978407,"influential_citations":0,"citation_trend":[],"oa_status":"closed","license":"http://doi.wiley.com/10.1002/tdm_license_1.1","oa_locations":[{"url":"https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320670102","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1320670102","host_type":"publisher"},{"url":"https://doi.org/10.1002/ajmg.1320670102","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/8678122","host_type":"repository"}],"fields_of_study":["Alzheimer's disease research and treatments","Genetic Associations and Epidemiology","Bioinformatics and Genomic Networks"],"mesh_terms":["Age Factors","Alzheimer Disease","Female","Genes, Dominant","Humans","Male","Mathematical Computing","Mutation","Pedigree","Risk Factors","Sex Factors","Age of Onset"],"keywords":["Pedigree chart","Proband","Penetrance","Mendelian inheritance","Genetics","Concordance","Inheritance (genetic algorithm)","Major gene","Disease","Allele","Age of onset","Early-onset Alzheimer's disease","Dementia","Biology","Mutation","Medicine","Gene","Internal medicine","Phenotype"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-02T18:23:18.439377Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}