{"id":"https://openalex.org/W1568211552","doi":null,"title":"Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.","display_name":"Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.","publication_year":1993,"publication_date":"1993-10-01","ids":{"openalex":"https://openalex.org/W1568211552","mag":"1568211552","pmid":"https://pubmed.ncbi.nlm.nih.gov/8213810","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1682375"},"language":"en","primary_location":{"id":"pmid:8213810","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8213810","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 human genetics","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/A5075357395","display_name":"Allyn McConkie\u2010Rosell","orcid":"https://orcid.org/0000-0003-3742-7799","observed_orcids":["https://orcid.org/0000-0003-3742-7799"]},"institutions":[{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A McConkie-Rosell","raw_affiliation_strings":["Department of Pediatrics, Duke University Medical Center, Durham, NC 27710"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Duke University Medical Center, Durham, NC 27710","institution_ids":["https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027901614","display_name":"Ave M. Lachiewicz","orcid":"https://orcid.org/0000-0002-2934-3088","observed_orcids":["https://orcid.org/0000-0002-2934-3088"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A M Lachiewicz","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064126682","display_name":"Gail A. Spiridigliozzi","orcid":"https://orcid.org/0000-0002-4933-1607","observed_orcids":["https://orcid.org/0000-0002-4933-1607"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G A Spiridigliozzi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012945520","display_name":"Jack C. Tarleton","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J Tarleton","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035125764","display_name":"S Schoenwald","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Schoenwald","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113636895","display_name":"Mary C. Phelan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M C Phelan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007970357","display_name":"Ponmani Goonewardena","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P Goonewardena","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082276036","display_name":"Xin Ding","orcid":"https://orcid.org/0000-0001-6055-5292","observed_orcids":["https://orcid.org/0000-0001-6055-5292"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"X Ding","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5111674720","display_name":"W. Ted Brown","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"W T Brown","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":8.4235,"has_fulltext":false,"cited_by_count":168,"citation_normalized_percentile":{"value":0.98441599,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"53","issue":"4","first_page":"800","last_page":"9"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":1.0,"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":1.0,"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/T10269","display_name":"Epigenetics and DNA Methylation","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"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":0.996999979019165},{"id":"https://openalex.org/keywords/dna-methylation","display_name":"DNA methylation","score":0.9829999804496765},{"id":"https://openalex.org/keywords/cgg-repeat-expansion","display_name":"CGG repeat expansion","score":0.7519999742507935},{"id":"https://openalex.org/keywords/premutation","display_name":"premutation","score":0.7369999885559082},{"id":"https://openalex.org/keywords/full-mutation","display_name":"full mutation","score":0.6650000214576721},{"id":"https://openalex.org/keywords/variable-expressivity","display_name":"variable expressivity","score":0.7350000143051147},{"id":"https://openalex.org/keywords/phenotypic-expression","display_name":"phenotypic expression","score":0.5680000185966492},{"id":"https://openalex.org/keywords/cognitive-impairment","display_name":"cognitive impairment","score":0.7960000038146973},{"id":"https://openalex.org/keywords/fragile-x-chromosome","display_name":"fragile X chromosome","score":0.5640000104904175}],"concepts":[{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.8394865989685059},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.7370119690895081},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.7084873914718628},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6124927997589111},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.6045348048210144},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6044337749481201},{"id":"https://openalex.org/C33288867","wikidata":"https://www.wikidata.org/wiki/Q518328","display_name":"Methylation","level":3,"score":0.5936373472213745},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.533332884311676},{"id":"https://openalex.org/C60449816","wikidata":"https://www.wikidata.org/wiki/Q5113903","display_name":"Chromosomal fragile site","level":4,"score":0.5189613699913025},{"id":"https://openalex.org/C3020422209","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile x","level":3,"score":0.4242323935031891},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.3675258755683899},{"id":"https://openalex.org/C552990157","wikidata":"https://www.wikidata.org/wiki/Q7430","display_name":"DNA","level":2,"score":0.2537470757961273},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.23076042532920837},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.21711665391921997}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","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":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000378","qualifier_name":"metabolism","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":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000503","qualifier_name":"physiopathology","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":"D008745","descriptor_name":"Methylation","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":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011581","descriptor_name":"Psychological Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016601","descriptor_name":"RNA-Binding Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D051860","descriptor_name":"Fragile X Messenger Ribonucleoprotein 1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:8213810","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8213810","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 human genetics","raw_type":"Journal Article"},{"id":"mag:1568211552","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8213810","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":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":32,"referenced_works":["https://openalex.org/W1683691009","https://openalex.org/W1941644192","https://openalex.org/W1969827462","https://openalex.org/W1977338445","https://openalex.org/W1989187665","https://openalex.org/W2002780348","https://openalex.org/W2008603738","https://openalex.org/W2022585903","https://openalex.org/W2029687941","https://openalex.org/W2037225821","https://openalex.org/W2042953168","https://openalex.org/W2044768684","https://openalex.org/W2046530033","https://openalex.org/W2051013729","https://openalex.org/W2064151884","https://openalex.org/W2071701704","https://openalex.org/W2092493475","https://openalex.org/W2095048485","https://openalex.org/W2096252283","https://openalex.org/W2111486924","https://openalex.org/W2118094114","https://openalex.org/W2133981174","https://openalex.org/W2138074651","https://openalex.org/W2139424308","https://openalex.org/W2140157140","https://openalex.org/W2144698620","https://openalex.org/W2149919973","https://openalex.org/W2167119720","https://openalex.org/W2169492321","https://openalex.org/W2235495502","https://openalex.org/W2297046467","https://openalex.org/W2326122757"],"related_works":["https://openalex.org/W1999715807","https://openalex.org/W336114805","https://openalex.org/W2169492321","https://openalex.org/W3163694833","https://openalex.org/W2057171625","https://openalex.org/W2149495205","https://openalex.org/W2118778872","https://openalex.org/W2755528949","https://openalex.org/W2132376239","https://openalex.org/W4308635056"],"abstract_inverted_index":{"DNA":[0,148,160],"at":[1],"the":[2,62,66,81,87,96,101,106,159,179,189,201,206,222,226,233,256,260],"FMR-1":[3,180],"locus":[4],"was":[5,93],"analyzed":[6],"by":[7],"Southern":[8],"blot":[9],"using":[10],"probe":[11],"StB12.3":[12],"in":[13,105,185,205,225],"an":[14,219],"unusual":[15],"fragile":[16,28,88,141,190,202],"X":[17,29,46,89,142,191,203],"family":[18],"with":[19,27,155,240,252],"six":[20],"brothers,":[21],"three":[22,77,107],"of":[23,34,41,61,86,98,126,158,176,178,188,200,218,221,232,259],"whom":[24,35,42],"are":[25,36,214],"affected":[26,63,78,108],"to":[30,72,119,150,238],"varying":[31,174],"degrees,":[32],"two":[33,67,111,207],"nonpenetrant":[37,68,116],"carriers,":[38],"and":[39,52,65,83,100,130,197],"one":[40],"is":[43,235],"unaffected.":[44],"Fragile":[45],"chromosome":[47,143],"studies,":[48,144],"detailed":[49],"physical":[50,133],"examinations,":[51],"psychological":[53],"testing":[54],"were":[55,70,117,138,145],"completed":[56],"on":[57,140,147],"all":[58],"six.":[59],"Two":[60],"brothers":[64,69],"found":[71,118,146],"be":[73],"methylation":[74,99,177],"mosaics.":[75],"The":[76,110,162,193],"males":[79,112,171,239],"spanned":[80],"phenotypic":[82,102,122,196],"cognitive":[84,128,198],"spectrum":[85],"syndrome.":[90,192],"A":[91],"correlation":[92],"seen":[94],"between":[95],"degree":[97],"expression":[103,123,187,199,231,258],"identified":[104],"males.":[109],"initially":[113,209],"classified":[114,210],"as":[115,211],"have":[120,151,173],"mild":[121,186,195],"which":[124,182],"consisted":[125],"minor":[127],"deficits":[129],"a":[131,249,253],"partial":[132],"phenotype.":[134,261],"These":[135],"two,":[136],"who":[137,213],"negative":[139],"analysis":[149],"large":[152],"broad":[153],"smears,":[154],"approximately":[156],"97%":[157],"unmethylated.":[161],"results":[163],"described":[164],"here":[165],"indicate":[166],"that":[167,230],"some":[168],"\"nonpenetrant\"":[169],"carrier":[170],"may":[172],"amounts":[175],"region,":[181],"can":[183],"result":[184],"apparently":[194],"syndrome":[204,234],"males,":[208],"nonpenetrant,":[212],"mosaic":[215],"for":[216,255],"hypermethylation":[217],"expansion":[220],"CGG":[223],"repeat":[224],"premutation":[227],"range,":[228],"indicates":[229],"not":[236],"confined":[237],"large,":[241],"hypermethylated":[242],"expansions":[243],"(full":[244],"mutation)":[245],"but":[246],"has":[247],"instead":[248],"gradient":[250],"effect":[251],"threshold":[254],"full":[257]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":5},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":6},{"year":2013,"cited_by_count":8},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}