{"id":"https://openalex.org/W2075147685","doi":"https://doi.org/10.1007/bf00207041","title":"Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis","display_name":"Detection of small RB1 gene deletions in retinoblastoma by multiplex PCR and high-resolution gel electrophoresis","publication_year":1992,"publication_date":"1992-04-01","ids":{"openalex":"https://openalex.org/W2075147685","doi":"https://doi.org/10.1007/bf00207041","mag":"2075147685","pmid":"https://pubmed.ncbi.nlm.nih.gov/1577465"},"language":"en","primary_location":{"id":"doi:10.1007/bf00207041","doi":"https://doi.org/10.1007/bf00207041","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00207041","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","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/A5069955866","display_name":"Dietmar Rudolf Lohmann","orcid":"https://orcid.org/0000-0002-2624-9889","observed_orcids":["https://orcid.org/0000-0002-2624-9889"]},"institutions":[{"id":"https://openalex.org/I3018134672","display_name":"Helmholtz Munich","ror":"https://ror.org/00cfam450","country_code":"DE","type":"facility","lineage":["https://openalex.org/I1305996414","https://openalex.org/I3018134672"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Dietmar Lohmann","raw_affiliation_strings":["Institut f\u00fcr Pathologie, GSF Forschungszentrum f\u00fcr Umwelt und Gesundheit, Federal Republic of Germany","Institut f\u00fcr Pathologie, GSF Forschungszentrum f\u00fcr Umwelt und Gesundheit, Ingolst\u00e4dter Landstrasse 1, W-8042, Neuherberg, Federal Republic of Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Pathologie, GSF Forschungszentrum f\u00fcr Umwelt und Gesundheit, Federal Republic of Germany","institution_ids":["https://openalex.org/I3018134672"]},{"raw_affiliation_string":"Institut f\u00fcr Pathologie, GSF Forschungszentrum f\u00fcr Umwelt und Gesundheit, Ingolst\u00e4dter Landstrasse 1, W-8042, Neuherberg, Federal Republic of Germany","institution_ids":["https://openalex.org/I3018134672"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050610275","display_name":"Bernhard Horsthemke","orcid":"https://orcid.org/0000-0002-8598-8147","observed_orcids":["https://orcid.org/0000-0002-8598-8147"]},"institutions":[{"id":"https://openalex.org/I4210119759","display_name":"Essen University Hospital","ror":"https://ror.org/02na8dn90","country_code":"DE","type":"funder","lineage":["https://openalex.org/I4210119759"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Bernhard Horsthemke","raw_affiliation_strings":["Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Essen, W-4300, Essen, Federal Republic of Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Essen, W-4300, Essen, Federal Republic of Germany","institution_ids":["https://openalex.org/I4210119759"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110094597","display_name":"Gabriele Gillessen\u2010Kaesbach","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210119759","display_name":"Essen University Hospital","ror":"https://ror.org/02na8dn90","country_code":"DE","type":"funder","lineage":["https://openalex.org/I4210119759"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Gabriele Gillessen-Kaesbach","raw_affiliation_strings":["Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Essen, W-4300, Essen, Federal Republic of Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Essen, W-4300, Essen, Federal Republic of Germany","institution_ids":["https://openalex.org/I4210119759"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113571562","display_name":"Fritz H. Stefani","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I8204097","display_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","ror":"https://ror.org/05591te55","country_code":"DE","type":"education","lineage":["https://openalex.org/I8204097"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"FritzHeinrich Stefani","raw_affiliation_strings":["Augenklinik der Universit\u00e4t, Ludwig Maximilians Universit\u00e4t M\u00fcnchen, W-8000, M\u00fcnchen, Federal Republic of Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Augenklinik der Universit\u00e4t, Ludwig Maximilians Universit\u00e4t M\u00fcnchen, W-8000, M\u00fcnchen, Federal Republic of Germany","institution_ids":["https://openalex.org/I8204097"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111544219","display_name":"Heinz H\ufffdfler","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I62916508","display_name":"Technical University of Munich","ror":"https://ror.org/02kkvpp62","country_code":"DE","type":"education","lineage":["https://openalex.org/I62916508"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Heinz H\ufffdfler","raw_affiliation_strings":["Institut f\u00fcr Pathologie, Technische Universit\u00e4t M\u00fcnchen, W-8000, M\u00fcnchen, Federal Republic of Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Pathologie, Technische Universit\u00e4t M\u00fcnchen, W-8000, M\u00fcnchen, Federal Republic of Germany","institution_ids":["https://openalex.org/I62916508"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3690,"currency":"USD","value_usd":3690},"apc_paid":null,"fwci":7.2314,"has_fulltext":false,"cited_by_count":48,"citation_normalized_percentile":{"value":0.97585971,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":87,"max":95},"biblio":{"volume":"89","issue":"1","first_page":"49","last_page":"53"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11328","display_name":"Ocular Oncology and Treatments","score":0.98580002784729,"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/T11328","display_name":"Ocular Oncology and Treatments","score":0.98580002784729,"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/T10691","display_name":"Retinal Development and Disorders","score":0.009399999864399433,"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/T11369","display_name":"Genetic factors in colorectal cancer","score":0.0010000000474974513,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"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/retinoblastoma","display_name":"retinoblastoma","score":0.9449999928474426},{"id":"https://openalex.org/keywords/rb1-gene","display_name":"RB1 gene","score":0.9610000252723694},{"id":"https://openalex.org/keywords/hereditary-retinoblastoma","display_name":"hereditary retinoblastoma","score":0.9860000014305115},{"id":"https://openalex.org/keywords/loss-of-heterozygosity","display_name":"loss of heterozygosity","score":0.7620000243186951},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.949999988079071},{"id":"https://openalex.org/keywords/multiplex-pcr","display_name":"multiplex PCR","score":0.7590000033378601},{"id":"https://openalex.org/keywords/direct-repeats","display_name":"direct repeats","score":0.5709999799728394},{"id":"https://openalex.org/keywords/tumor-dna","display_name":"tumor DNA","score":0.4050000011920929}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8644420504570007},{"id":"https://openalex.org/C2776577112","wikidata":"https://www.wikidata.org/wiki/Q500695","display_name":"Retinoblastoma","level":3,"score":0.8079444169998169},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6829738616943359},{"id":"https://openalex.org/C90583042","wikidata":"https://www.wikidata.org/wiki/Q1952456","display_name":"Multiplex polymerase chain reaction","level":4,"score":0.6051645874977112},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5921429395675659},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5755935907363892},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.5616896152496338},{"id":"https://openalex.org/C2781188995","wikidata":"https://www.wikidata.org/wiki/Q6934982","display_name":"Multiplex","level":2,"score":0.5072566866874695},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4407663643360138},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.4246782958507538}],"mesh":[{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004591","descriptor_name":"Electrophoresis, Polyacrylamide Gel","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005134","descriptor_name":"Eye Neoplasms","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008969","descriptor_name":"Molecular Sequence Data","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012175","descriptor_name":"Retinoblastoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016161","descriptor_name":"Genes, Retinoblastoma","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1007/bf00207041","doi":"https://doi.org/10.1007/bf00207041","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00207041","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},{"id":"pmid:1577465","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1577465","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":"Human genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":25,"referenced_works":["https://openalex.org/W30993614","https://openalex.org/W53740825","https://openalex.org/W1238207755","https://openalex.org/W1603384474","https://openalex.org/W1777925829","https://openalex.org/W1969508562","https://openalex.org/W1988433137","https://openalex.org/W1989976890","https://openalex.org/W2002006403","https://openalex.org/W2013863113","https://openalex.org/W2034440981","https://openalex.org/W2038718616","https://openalex.org/W2040834490","https://openalex.org/W2045718795","https://openalex.org/W2046556570","https://openalex.org/W2049907875","https://openalex.org/W2058454398","https://openalex.org/W2065882686","https://openalex.org/W2066980099","https://openalex.org/W2085911846","https://openalex.org/W2098384407","https://openalex.org/W2099742439","https://openalex.org/W2114738441","https://openalex.org/W2322006522","https://openalex.org/W2418142884"],"related_works":["https://openalex.org/W42562434","https://openalex.org/W2059410333","https://openalex.org/W2078416547","https://openalex.org/W2019513601","https://openalex.org/W2052596323","https://openalex.org/W2336113858","https://openalex.org/W2116978077","https://openalex.org/W2128129575","https://openalex.org/W3171887251","https://openalex.org/W1975236210"],"abstract_inverted_index":null,"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}