{"id":"https://openalex.org/W170051914","doi":null,"title":"Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci.","display_name":"Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci.","publication_year":2000,"publication_date":"2000-01-01","ids":{"openalex":"https://openalex.org/W170051914","mag":"170051914","pmid":"https://pubmed.ncbi.nlm.nih.gov/10634627"},"language":"en","primary_location":{"id":"pmid:10634627","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10634627","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Investigative ophthalmology & visual science","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5008326019","display_name":"Irina B. Griesinger","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"I B Griesinger","raw_affiliation_strings":["W.K. Kellogg Eye Center, University of Michigan, Ann Arbor 48105, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"W.K. Kellogg Eye Center, University of Michigan, Ann Arbor 48105, USA","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113752208","display_name":"Paul A. Sieving","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"P A Sieving","raw_affiliation_strings":["From the W. K. Kellogg Eye Center, University of Michigan, Ann Arbor"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the W. K. Kellogg Eye Center, University of Michigan, Ann Arbor","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5081971877","display_name":"Radha Ayyagari","orcid":"https://orcid.org/0000-0002-6804-7740","observed_orcids":["https://orcid.org/0000-0002-6804-7740"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R Ayyagari","raw_affiliation_strings":["From the W. K. Kellogg Eye Center, University of Michigan, Ann Arbor"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the W. K. Kellogg Eye Center, University of Michigan, Ann Arbor","institution_ids":["https://openalex.org/I27837315"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I27837315"],"apc_list":null,"apc_paid":null,"fwci":7.9515,"has_fulltext":false,"cited_by_count":48,"citation_normalized_percentile":{"value":0.97684997,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"41","issue":"1","first_page":"248","last_page":"55"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9976000189781189,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10170","display_name":"Retinal Diseases and Treatments","score":0.0013000000035390258,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11194","display_name":"Ocular Diseases and Beh\u00e7et\u2019s Syndrome","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/atrophic-macular-degeneration","display_name":"atrophic macular degeneration","score":0.8939999938011169},{"id":"https://openalex.org/keywords/retinal-pigment-epithelium-atrophy","display_name":"retinal pigment epithelium atrophy","score":0.8289999961853027},{"id":"https://openalex.org/keywords/genetic-mapping","display_name":"gene mapping","score":0.7450000047683716},{"id":"https://openalex.org/keywords/cone-rod-dystrophy","display_name":"cone-rod dystrophy","score":0.7879999876022339},{"id":"https://openalex.org/keywords/linkage-analysis","display_name":"linkage analysis","score":0.5910000205039978},{"id":"https://openalex.org/keywords/haplotype-analysis","display_name":"haplotype analysis","score":0.972000002861023}],"concepts":[{"id":"https://openalex.org/C2776403814","wikidata":"https://www.wikidata.org/wiki/Q27429789","display_name":"Macular degeneration","level":2,"score":0.7693164348602295},{"id":"https://openalex.org/C2781114197","wikidata":"https://www.wikidata.org/wiki/Q847057","display_name":"Retinitis pigmentosa","level":3,"score":0.6915321350097656},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.5942273139953613},{"id":"https://openalex.org/C2908795567","wikidata":"https://www.wikidata.org/wiki/Q6725783","display_name":"Macular dystrophy","level":3,"score":0.5693308115005493},{"id":"https://openalex.org/C2781172350","wikidata":"https://www.wikidata.org/wiki/Q194520","display_name":"Atrophy","level":2,"score":0.5371004343032837},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4739794135093689},{"id":"https://openalex.org/C2781040256","wikidata":"https://www.wikidata.org/wiki/Q7316761","display_name":"Retinal degeneration","level":3,"score":0.4628526270389557},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.43877673149108887},{"id":"https://openalex.org/C2780604041","wikidata":"https://www.wikidata.org/wiki/Q1317319","display_name":"Stargardt disease","level":3,"score":0.4357791244983673},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.40782803297042847},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.39790573716163635},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.30241847038269043},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1492559015750885}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001284","descriptor_name":"Atrophy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002896","descriptor_name":"Chromosomes, Human, Pair 6","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004596","descriptor_name":"Electroretinography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005136","descriptor_name":"Eye Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005451","descriptor_name":"Fluorescein Angiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008266","descriptor_name":"Macula Lutea","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D008268","descriptor_name":"Macular Degeneration","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008268","descriptor_name":"Macular Degeneration","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014792","descriptor_name":"Visual Acuity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015862","descriptor_name":"Choroid Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020419","descriptor_name":"Photoreceptor Cells, Vertebrate","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:10634627","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10634627","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Investigative ophthalmology & visual science","raw_type":"Journal Article"},{"id":"mag:170051914","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10634627","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G2527068352","display_name":"INNER RETINAL CONTRIBUTIONS TO THE ERG","funder_award_id":"R01EY006094","funder_id":"https://openalex.org/F4320337350","funder_display_name":"National Eye Institute"},{"id":"https://openalex.org/G8297551062","display_name":"General Clinical Research Center","funder_award_id":"M01RR000042","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"}],"funders":[{"id":"https://openalex.org/F4320337350","display_name":"National Eye Institute","ror":"https://ror.org/03wkg3b53"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":27,"referenced_works":["https://openalex.org/W632173851","https://openalex.org/W1501706589","https://openalex.org/W1527992163","https://openalex.org/W1553230368","https://openalex.org/W1604929717","https://openalex.org/W1608622913","https://openalex.org/W1688372082","https://openalex.org/W1966039514","https://openalex.org/W1982102429","https://openalex.org/W1985682723","https://openalex.org/W1990509128","https://openalex.org/W1991544676","https://openalex.org/W1994172606","https://openalex.org/W2001098516","https://openalex.org/W2002648388","https://openalex.org/W2012772000","https://openalex.org/W2019067036","https://openalex.org/W2021284278","https://openalex.org/W2021371090","https://openalex.org/W2023872774","https://openalex.org/W2045082459","https://openalex.org/W2118735909","https://openalex.org/W2130296229","https://openalex.org/W2154573014","https://openalex.org/W2170414172","https://openalex.org/W2294947380","https://openalex.org/W2398370662"],"related_works":["https://openalex.org/W2026901906","https://openalex.org/W153068527","https://openalex.org/W2075156508","https://openalex.org/W2137246645","https://openalex.org/W2140139153","https://openalex.org/W2023872774","https://openalex.org/W2002648388","https://openalex.org/W1988623617","https://openalex.org/W1983015543","https://openalex.org/W2037302397"],"abstract_inverted_index":{"PURPOSE:":[0],"Localization":[1],"of":[2,98,137,164,181],"the":[3,30,54,75,118,134,198,202],"gene":[4,32,120],"responsible":[5],"for":[6,179,201],"autosomal":[7],"dominant":[8],"atrophic":[9],"macular":[10,40,110,149,182],"degeneration":[11,41,111,150,183],"(adMD)":[12],"in":[13,42,53,74,89,102,121],"a":[14,187],"large":[15],"pedigree":[16],"UM:H785.":[17],"METHODS:":[18],"Standard":[19],"ophthalmologic":[20],"examinations":[21],"were":[22,26],"performed.":[23],"Microsatellite":[24],"markers":[25],"used":[27],"to":[28,95,108,125],"map":[29],"disease":[31,119],"by":[33,47,60],"linkage":[34],"and":[35,70,81,146,151,195,209],"haplotype":[36],"analyses.":[37],"RESULTS:":[38],"The":[39,79,100,158],"this":[43],"family":[44,104,124,204],"is":[45,132],"characterized":[46],"progressive":[48,152],"retinal":[49],"pigment":[50],"epithelial":[51],"atrophy":[52,155],"macula":[55],"without":[56],"apparent":[57],"peripheral":[58],"involvement":[59],"ophthalmoscopy":[61],"or":[62,86],"functional":[63],"studies.":[64],"Acuity":[65],"loss":[66],"progressed":[67],"with":[68,112,162,207],"age":[69],"generally":[71],"was":[72],"worse":[73],"older":[76],"affected":[77,92],"individuals.":[78],"rod":[80],"cone":[82],"function":[83],"remained":[84],"normal":[85,88],"nearly":[87],"all":[90],"tested":[91],"members":[93],"up":[94],"61":[96],"years":[97],"age.":[99],"phenotype":[101],"our":[103,122],"has":[105],"characteristics":[106],"similar":[107],"Stargardt-like":[109],"some":[113],"differences.":[114],"Haplotype":[115],"analysis":[116],"localized":[117],"adMD":[123,203],"an":[126],"8-cM":[127],"region":[128],"at":[129,173],"6q14,":[130],"which":[131],"within":[133,186],"18-cM":[135],"interval":[136,160,189,200],"STGD3":[138,208],"but":[139],"excludes":[140],"cone-rod":[141],"dystrophy":[142],"7":[143],"(CORD7;":[144],"centromeric)":[145],"North":[147],"Carolina":[148],"bifocal":[153],"chorioretinal":[154],"(MCDR1/PBCRA;":[156],"telomeric).":[157],"mapping":[159],"overlaps":[161,206],"that":[163,184],"recessive":[165],"retinitis":[166],"pigmentosa":[167],"(RP25).":[168],"CONCLUSIONS:":[169],"These":[170],"results":[171],"implicate":[172],"least":[174],"three":[175],"genetically":[176],"distinct":[177],"loci":[178,212],"forms":[180],"lie":[185],"30-cM":[188],"on":[190],"chromosome":[191],"6p11-6q16:":[192],"CORD7,":[193],"adMD,":[194],"MCDR1/PBCRA.":[196],"Because":[197],"critical":[199],"studied":[205],"RP25,":[210],"these":[211],"could":[213],"be":[214],"allelic.":[215]},"counts_by_year":[{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-03T10:50:19.383937","created_date":"2016-06-24T00:00:00"}