{"id":"https://openalex.org/W2019911705","doi":"https://doi.org/10.1002/ajmg.1320300159","title":"Pulsed\u2010field gel mapping studies in the vicinity of the fragile site at Xq27.3","display_name":"Pulsed\u2010field gel mapping studies in the vicinity of the fragile site at Xq27.3","publication_year":1988,"publication_date":"1988-05-01","ids":{"openalex":"https://openalex.org/W2019911705","doi":"https://doi.org/10.1002/ajmg.1320300159","mag":"2019911705","pmid":"https://pubmed.ncbi.nlm.nih.gov/3177471"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.1320300159","doi":"https://doi.org/10.1002/ajmg.1320300159","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.1320300159","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","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/A5036954481","display_name":"Mark N. Patterson","orcid":"https://orcid.org/0000-0001-7237-0797","observed_orcids":["https://orcid.org/0000-0001-7237-0797"]},"institutions":[{"id":"https://openalex.org/I2802742124","display_name":"John Radcliffe Hospital","ror":"https://ror.org/0080acb59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802742124","https://openalex.org/I4210127145","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M. Patterson","raw_affiliation_strings":["Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nuffield Department of Medicine, University of Oxford, John Radcliffe Hospital, UK","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110881435","display_name":"M Bell","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802742124","display_name":"John Radcliffe Hospital","ror":"https://ror.org/0080acb59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802742124","https://openalex.org/I4210127145","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M. Bell","raw_affiliation_strings":["Nuffield Department Of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nuffield Department Of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072815495","display_name":"Charles E. Schwartz","orcid":"https://orcid.org/0000-0002-7770-1943","observed_orcids":["https://orcid.org/0000-0002-7770-1943"]},"institutions":[{"id":"https://openalex.org/I4210149064","display_name":"Greenwood Genetic Center","ror":"https://ror.org/03p64mj41","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I4210149064"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"C. Schwartz","raw_affiliation_strings":["Recombinant DNA Laboratory, Greenwood Genetic Center, Greenwood, South Carolina, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Recombinant DNA Laboratory, Greenwood Genetic Center, Greenwood, South Carolina, USA","institution_ids":["https://openalex.org/I4210149064"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5005383467","display_name":"Kay Elizabeth Davies","orcid":"https://orcid.org/0000-0001-8807-8520","observed_orcids":["https://orcid.org/0000-0001-8807-8520"]},"institutions":[{"id":"https://openalex.org/I2802742124","display_name":"John Radcliffe Hospital","ror":"https://ror.org/0080acb59","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802742124","https://openalex.org/I4210127145","https://openalex.org/I4210147381"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"K. Davies","raw_affiliation_strings":["Nuffield Department Of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Nuffield Department Of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK","institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5005383467"],"corresponding_institution_ids":["https://openalex.org/I2802742124","https://openalex.org/I40120149"],"apc_list":null,"apc_paid":null,"fwci":3.5497,"has_fulltext":false,"cited_by_count":17,"citation_normalized_percentile":{"value":0.93024561,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":null,"biblio":{"volume":"30","issue":"1-2","first_page":"581","last_page":"591"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9901999831199646,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9901999831199646,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.00800000037997961,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/fragile-x-syndrome","display_name":"fragile X syndrome","score":0.7260000109672546},{"id":"https://openalex.org/keywords/fragile-sites","display_name":"fragile sites","score":0.8510000109672546},{"id":"https://openalex.org/keywords/xq27-3","display_name":"Xq27.3","score":0.9679999947547913},{"id":"https://openalex.org/keywords/physical-mapping","display_name":"physical mapping","score":0.847000002861023},{"id":"https://openalex.org/keywords/deletion-breakpoints","display_name":"deletion breakpoints","score":0.6819999814033508},{"id":"https://openalex.org/keywords/dxs52","display_name":"DXS52","score":0.7900000214576721},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.5230000019073486},{"id":"https://openalex.org/keywords/physical-linkage","display_name":"physical linkage","score":0.3700000047683716}],"concepts":[{"id":"https://openalex.org/C60449816","wikidata":"https://www.wikidata.org/wiki/Q5113903","display_name":"Chromosomal fragile site","level":4,"score":0.9285966157913208},{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.7481388449668884},{"id":"https://openalex.org/C206936463","wikidata":"https://www.wikidata.org/wiki/Q634179","display_name":"Breakpoint","level":4,"score":0.632978081703186},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5243725776672363},{"id":"https://openalex.org/C3020422209","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile x","level":3,"score":0.4945819079875946},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4721907377243042},{"id":"https://openalex.org/C31266012","wikidata":"https://www.wikidata.org/wiki/Q6554340","display_name":"Linkage (software)","level":3,"score":0.4569852650165558},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.43884626030921936},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.3303758502006531},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.09917554259300232},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.08113273978233337}],"mesh":[{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002873","descriptor_name":"Chromosome Fragility","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004586","descriptor_name":"Electrophoresis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012729","descriptor_name":"Sex Chromosome Aberrations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015342","descriptor_name":"DNA Probes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D043283","descriptor_name":"Chromosome Fragile Sites","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.1320300159","doi":"https://doi.org/10.1002/ajmg.1320300159","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.1320300159","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:3177471","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3177471","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":"American journal of medical genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.4000000059604645,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W243838816","https://openalex.org/W1513717105","https://openalex.org/W1972322732","https://openalex.org/W1979700210","https://openalex.org/W1982578078","https://openalex.org/W2007478510","https://openalex.org/W2015702135","https://openalex.org/W2016253625","https://openalex.org/W2025021474","https://openalex.org/W2029766197","https://openalex.org/W2051622302","https://openalex.org/W2061461086","https://openalex.org/W2062621371","https://openalex.org/W2066484223","https://openalex.org/W2073210114","https://openalex.org/W2074242219","https://openalex.org/W2084118479","https://openalex.org/W2144634347","https://openalex.org/W2171286337"],"related_works":["https://openalex.org/W2024641849","https://openalex.org/W2077084114","https://openalex.org/W2062621371","https://openalex.org/W2129163273","https://openalex.org/W114113623","https://openalex.org/W2135393261","https://openalex.org/W1978065796","https://openalex.org/W1986144394","https://openalex.org/W1971635258","https://openalex.org/W2600778909"],"abstract_inverted_index":{"Physical":[0],"mapping":[1],"strategies":[2],"are":[3],"being":[4],"employed":[5],"for":[6,46],"an":[7],"analysis":[8],"of":[9,31,73],"the":[10,22,38,68,74],"fragile":[11,23,75],"X":[12],"site":[13,24],"region.":[14],"Deletion":[15],"breakpoints":[16],"which":[17],"may":[18],"be":[19,27],"close":[20],"to":[21,26],"appear":[25],"at":[28,32],"a":[29],"distance":[30],"least":[33],"several":[34],"hundred":[35],"kb":[36],"from":[37],"nearest":[39],"DNA":[40],"probes.":[41],"Further":[42],"evidence":[43],"is":[44],"found":[45],"physical":[47],"linkage":[48],"between":[49,67],"St14":[50],"(DXS52),":[51],"DX13":[52],"(DXS15)":[53],"and":[54,70],"MN12":[55],"(DXS33).":[56],"The":[57],"data":[58],"indicate":[59],"differences":[60],"in":[61],"CG":[62],"content":[63],"and/or":[64],"methylation":[65],"levels":[66],"distal":[69],"proximal":[71],"sides":[72],"site.":[76]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
