{"id":"https://openalex.org/W1574448204","doi":null,"title":"Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.","display_name":"Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.","publication_year":1993,"publication_date":"1993-12-01","ids":{"openalex":"https://openalex.org/W1574448204","mag":"1574448204","pmid":"https://pubmed.ncbi.nlm.nih.gov/7902673"},"language":"en","primary_location":{"id":"pmid:7902673","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7902673","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":"Comparative Study"},"volume":null,"type":"article","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/A5109844098","display_name":"K. Snow","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"K Snow","raw_affiliation_strings":["Mayo Clinic and Foundation, Rochester, MN 55905"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic and Foundation, Rochester, MN 55905","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011168051","display_name":"L.K. Doud","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"L K Doud","raw_affiliation_strings":["Mayo Clinic Rochester-MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Rochester-MN","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086196058","display_name":"Randi Jenssen Hagerman","orcid":"https://orcid.org/0000-0001-5029-8448","observed_orcids":["https://orcid.org/0000-0001-5029-8448","https://orcid.org/0000-0002-8026-6559"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R Hagerman","raw_affiliation_strings":["Children's Hospital, Denver"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital, Denver","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111782009","display_name":"Robert G. Pergolizzi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1302444339","display_name":"Northwell Health","ror":"https://ror.org/02bxt4m23","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1302444339"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R G Pergolizzi","raw_affiliation_strings":["North Shore Long Island Jewish Health System"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"North Shore Long Island Jewish Health System","institution_ids":["https://openalex.org/I1302444339"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110345686","display_name":"Susan H. Erster","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1302444339","display_name":"Northwell Health","ror":"https://ror.org/02bxt4m23","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1302444339"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S H Erster","raw_affiliation_strings":["North Shore Long Island Jewish Health System"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"North Shore Long Island Jewish Health System","institution_ids":["https://openalex.org/I1302444339"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5090473173","display_name":"Stephen N. Thibodeau","orcid":"https://orcid.org/0000-0003-0078-8558","observed_orcids":["https://orcid.org/0000-0003-0078-8558"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S N Thibodeau","raw_affiliation_strings":["Mayo Clinic Rochester-MN"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mayo Clinic Rochester-MN","institution_ids":["https://openalex.org/I1330342723"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":11.1108,"has_fulltext":false,"cited_by_count":226,"citation_normalized_percentile":{"value":0.98899019,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"53","issue":"6","first_page":"1217","last_page":"28"},"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":9.999999747378752e-05,"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"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/fragile-x-syndrome","display_name":"fragile X syndrome","score":0.9539999961853027},{"id":"https://openalex.org/keywords/fmr1","display_name":"FMR1 gene","score":0.8420000076293945},{"id":"https://openalex.org/keywords/cgg-repeat-expansion","display_name":"CGG repeat expansion","score":0.8240000009536743},{"id":"https://openalex.org/keywords/premutation","display_name":"premutation","score":0.7570000290870667},{"id":"https://openalex.org/keywords/full-mutation","display_name":"full mutation","score":0.9589999914169312},{"id":"https://openalex.org/keywords/repeat-instability","display_name":"repeat instability","score":0.6940000057220459},{"id":"https://openalex.org/keywords/cpg-island-methylation","display_name":"CpG island methylation","score":0.7200000286102295},{"id":"https://openalex.org/keywords/general-population","display_name":"general population","score":0.6039999723434448}],"concepts":[{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.7868727445602417},{"id":"https://openalex.org/C133307689","wikidata":"https://www.wikidata.org/wiki/Q48749","display_name":"Southern blot","level":3,"score":0.7865618467330933},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7497183680534363},{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.713716983795166},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6700679063796997},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.6154919266700745},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.6141592264175415},{"id":"https://openalex.org/C128319531","wikidata":"https://www.wikidata.org/wiki/Q219715","display_name":"Restriction enzyme","level":3,"score":0.6103681921958923},{"id":"https://openalex.org/C140173407","wikidata":"https://www.wikidata.org/wiki/Q1138358","display_name":"CpG site","level":5,"score":0.5920584201812744},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5908296704292297},{"id":"https://openalex.org/C169802333","wikidata":"https://www.wikidata.org/wiki/Q424473","display_name":"Repeated sequence","level":4,"score":0.4738460183143616},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.44570106267929077},{"id":"https://openalex.org/C49105822","wikidata":"https://www.wikidata.org/wiki/Q176996","display_name":"Polymerase chain reaction","level":3,"score":0.4331280291080475},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4084182381629944},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.1424521505832672},{"id":"https://openalex.org/C141231307","wikidata":"https://www.wikidata.org/wiki/Q7020","display_name":"Genome","level":3,"score":0.1282411813735962},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.05151146650314331},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D003596","descriptor_name":"Cytosine","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D003596","descriptor_name":"Cytosine","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D003596","descriptor_name":"Cytosine","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":false},{"descriptor_ui":"D005069","descriptor_name":"Evaluation Studies as Topic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005069","descriptor_name":"Evaluation Studies as Topic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005069","descriptor_name":"Evaluation Studies as Topic","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":"D005260","descriptor_name":"Female","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":false},{"descriptor_ui":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","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":"D005838","descriptor_name":"Genotype","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":"D006147","descriptor_name":"Guanine","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D006147","descriptor_name":"Guanine","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D006147","descriptor_name":"Guanine","qualifier_ui":"Q000737","qualifier_name":"chemistry","is_major_topic":true},{"descriptor_ui":"D006580","descriptor_name":"Genetic Carrier Screening","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006580","descriptor_name":"Genetic Carrier Screening","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006580","descriptor_name":"Genetic Carrier Screening","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":"D006801","descriptor_name":"Humans","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":"D008297","descriptor_name":"Male","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":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009419","descriptor_name":"Nerve Tissue Proteins","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":"D010375","descriptor_name":"Pedigree","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":"D010641","descriptor_name":"Phenotype","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":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012091","descriptor_name":"Repetitive Sequences, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012091","descriptor_name":"Repetitive Sequences, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012091","descriptor_name":"Repetitive Sequences, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012150","descriptor_name":"Polymorphism, Restriction Fragment Length","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012150","descriptor_name":"Polymorphism, Restriction Fragment Length","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012150","descriptor_name":"Polymorphism, Restriction Fragment Length","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015139","descriptor_name":"Blotting, Southern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015139","descriptor_name":"Blotting, Southern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015139","descriptor_name":"Blotting, Southern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","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":"D016601","descriptor_name":"RNA-Binding Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"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 Mental Retardation Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051860","descriptor_name":"Fragile X Messenger Ribonucleoprotein 1","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051860","descriptor_name":"Fragile X Mental Retardation Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:7902673","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7902673","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":"Comparative Study"},{"id":"mag:1574448204","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7902673","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":null,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G7863956087","display_name":"NEUROCOG, EMOT, AND PHYS PHENOTYPE OF FRAGILE X FEMALES","funder_award_id":"5r01mh045916-05","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":33,"referenced_works":["https://openalex.org/W1503611543","https://openalex.org/W1592024261","https://openalex.org/W1683691009","https://openalex.org/W1969114460","https://openalex.org/W1974369216","https://openalex.org/W1977283045","https://openalex.org/W1977379640","https://openalex.org/W1989187665","https://openalex.org/W2002780348","https://openalex.org/W2012209378","https://openalex.org/W2016635838","https://openalex.org/W2022174739","https://openalex.org/W2022504602","https://openalex.org/W2029002218","https://openalex.org/W2029687941","https://openalex.org/W2045638653","https://openalex.org/W2051013729","https://openalex.org/W2063668497","https://openalex.org/W2064639043","https://openalex.org/W2070799977","https://openalex.org/W2083677818","https://openalex.org/W2084547117","https://openalex.org/W2086075525","https://openalex.org/W2096252283","https://openalex.org/W2121523316","https://openalex.org/W2135689989","https://openalex.org/W2149919973","https://openalex.org/W2166509607","https://openalex.org/W2167119720","https://openalex.org/W2169492321","https://openalex.org/W2224938033","https://openalex.org/W2326122757","https://openalex.org/W2336616868"],"related_works":["https://openalex.org/W2166717297","https://openalex.org/W2011042982","https://openalex.org/W2131241935","https://openalex.org/W40135556","https://openalex.org/W1992831750","https://openalex.org/W2160284605","https://openalex.org/W1574448204","https://openalex.org/W2050638614","https://openalex.org/W2041834557","https://openalex.org/W3116851657"],"abstract_inverted_index":{"In":[0,95,147,229],"this":[1],"study,":[2],"we":[3],"have":[4],"characterized":[5],"a":[6,68,125,130,151,164,194,256,268,281],"CGG":[7,114,152,234],"repeat":[8,115,153,165,187,235,257,282],"at":[9,143],"the":[10,32,58,62,73,96,109,134,138,144,148,157,169,184,198,230,233,288,294],"FMR-1":[11,145],"locus":[12],"in":[13,28,53,76,84,197,222,227,293],"more":[14],"than":[15,19,247],"100":[16],"families":[17],"(more":[18],"500":[20],"individuals)":[21],"presenting":[22],"for":[23,43],"fragile":[24,272],"X":[25,273],"testing":[26],"and":[27,38,51,80,133,163,212,219],"247":[29],"individuals":[30,278],"from":[31,237],"general":[33,295],"population.":[34],"Both":[35],"Southern":[36,59,126],"blot":[37,60,127],"PCR-based":[39,97],"assays":[40],"were":[41,72,180,215],"evaluated":[42],"their":[44],"ability":[45],"to":[46,118,159,174,193,239],"detect":[47],"premutations,":[48,274],"full":[49,195],"mutations,":[50],"variability":[52],"normal":[54],"allele":[55,253,264],"sizes.":[56],"Among":[57],"assays,":[61,98],"probes":[63],"Ox1.9":[64],"or":[65],"StB12.3":[66],"with":[67,129,189,207,217,271],"double":[69,131],"restriction-enzyme":[70],"digest":[71,132],"most":[74,110,251],"sensitive":[75],"detecting":[77],"both":[78],"small":[79],"large":[81],"amplifications":[82],"and,":[83],"addition,":[85],"provided":[86],"information":[87],"on":[88,103],"methylation":[89,210],"of":[90,100,113,124,140,154,166,172,186,191,243,258,283,290],"an":[91,208,263],"adjacent":[92],"CpG":[93],"island.":[94],"analysis":[99],"PCR":[101],"products":[102],"denaturing":[104],"DNA":[105],"sequencing":[106],"gels":[107],"allowed":[108],"accurate":[111],"determination":[112],"number":[116],"up":[117],"approximately":[119,299],"130":[120],"repeats.":[121,249],"A":[122],"combination":[123],"assay":[128,136],"PCR-sequencing-gel":[135],"detected":[137],"spectrum":[139],"amplification-type":[141],"mutations":[142,202],"locus.":[146],"patient":[149],"population,":[150,232],"51":[155],"was":[156,168,255],"largest":[158],"be":[160,175,298],"stably":[161],"inherited,":[162],"57":[167],"smallest":[170],"size":[171,185],"premutation":[173],"unstably":[176],"inherited.":[177],"When":[178],"premutations":[179],"transmitted":[181],"by":[182],"females,":[183],"correlated":[188],"risk":[190],"expansion":[192],"mutation":[196],"next":[199],"generation.":[200],"Full":[201],"(large":[203],"repeats":[204],"typically":[205],"associated":[206,216],"abnormal":[209],"pattern":[211],"mitotic":[213],"instability)":[214],"clinical":[218],"cytogenetic":[220],"manifestations":[221],"males":[223],"but":[224,241],"not":[225],"necessarily":[226],"females.":[228],"control":[231],"ranged":[236],"13":[238],"61,":[240],"94%":[242],"alleles":[244,292],"had":[245,262,280],"fewer":[246],"40":[248],"The":[250],"frequent":[252],"(34%)":[254],"30.":[259],"One":[260],"female":[261],"(61":[265],"repeats)":[266],"within":[267],"range":[269],"consistent":[270],"while":[275],"two":[276],"other":[277],"each":[279],"52.":[284],"This":[285],"suggests":[286],"that":[287],"frequency":[289],"unstable":[291],"population":[296],"may":[297],"1%.":[300]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":7}],"updated_date":"2026-10-22T09:42:04.148104","created_date":"2025-10-10T00:00:00"}
