{"id":"https://openalex.org/W53782263","doi":null,"title":"Systematic screening for fragile X syndrome in a cohort of 574 mentally retarded children.","display_name":"Systematic screening for fragile X syndrome in a cohort of 574 mentally retarded children.","publication_year":1997,"publication_date":"1997-01-01","ids":{"openalex":"https://openalex.org/W53782263","mag":"53782263","pmid":"https://pubmed.ncbi.nlm.nih.gov/9401101"},"language":"en","primary_location":{"id":"pmid:9401101","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9401101","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":"Annales de genetique","raw_type":"Clinical Trial"},"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/A5076321079","display_name":"B\u00e9n\u00e9dicte G\u00e9rard","orcid":"https://orcid.org/0000-0002-0015-7425","observed_orcids":["https://orcid.org/0000-0002-0015-7425"]},"institutions":[{"id":"https://openalex.org/I4210111777","display_name":"Laboratoire de Biochimie","ror":"https://ror.org/01thw2g46","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I190752583","https://openalex.org/I2746051580","https://openalex.org/I4210111777","https://openalex.org/I4210139971","https://openalex.org/I4210161506","https://openalex.org/I98910050"]},{"id":"https://openalex.org/I4210126712","display_name":"H\u00f4pital Robert-Debr\u00e9","ror":"https://ror.org/02dcqy320","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210126712"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"B G\u00e9rard","raw_affiliation_strings":["Laboratoire de Biochimie G\u00e9n\u00e9tique, H\u00f4pital Robert Debr\u00e9, Paris, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Biochimie G\u00e9n\u00e9tique, H\u00f4pital Robert Debr\u00e9, Paris, France","institution_ids":["https://openalex.org/I4210111777","https://openalex.org/I4210126712"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112158283","display_name":"M.-F. Le Heuzey","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M F Le Heuzey","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026359941","display_name":"G. Brunie","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G Brunie","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021750465","display_name":"P Lewine","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P Lewine","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066444375","display_name":"Marie-Claude Saiag","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M C Saiag","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111620016","display_name":"V. Cacheux","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"V Cacheux","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007282796","display_name":"F Da Silva","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F Da Silva","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"M Dugas","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Dugas","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109261217","display_name":"Marie\u2013Christine Mouren","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M C Mouren-Simeoni","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030897241","display_name":"Jacques \u00c9lion","orcid":"https://orcid.org/0000-0002-8407-1783","observed_orcids":["https://orcid.org/0000-0002-8407-1783","https://orcid.org/0000-0002-7438-4591"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J Elion","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5111483120","display_name":"Bernard Grandchamp","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"B Grandchamp","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.32,"has_fulltext":false,"cited_by_count":16,"citation_normalized_percentile":{"value":0.51768431,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"40","issue":"3","first_page":"139","last_page":"44"},"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/T11015","display_name":"Down syndrome and intellectual disability research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"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/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":0.9990000128746033},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.765999972820282},{"id":"https://openalex.org/keywords/systematic-screening","display_name":"systematic screening","score":0.8090000152587891},{"id":"https://openalex.org/keywords/prevalence","display_name":"prevalence","score":0.9580000042915344},{"id":"https://openalex.org/keywords/pcr-based-screening","display_name":"PCR-based screening","score":0.5550000071525574},{"id":"https://openalex.org/keywords/sex-differences","display_name":"sex differences","score":0.6819999814033508},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.7720000147819519}],"concepts":[{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.9437904357910156},{"id":"https://openalex.org/C3019965780","wikidata":"https://www.wikidata.org/wiki/Q183560","display_name":"Mentally retarded","level":2,"score":0.8269264698028564},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.7989476919174194},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5454077124595642},{"id":"https://openalex.org/C3020422209","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile x","level":3,"score":0.5427747964859009},{"id":"https://openalex.org/C201903717","wikidata":"https://www.wikidata.org/wiki/Q1778788","display_name":"Cohort study","level":2,"score":0.43428391218185425},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.39457249641418457},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.34603744745254517},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2963813245296478},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.26892977952957153},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.22579017281532288},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.16056853532791138},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.1002817153930664},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","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":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"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":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:9401101","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9401101","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":"Annales de genetique","raw_type":"Clinical Trial"},{"id":"mag:53782263","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9401101","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":[{"display_name":"Good health and well-being","score":1.0,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1968205221","https://openalex.org/W2012894105","https://openalex.org/W7052662134","https://openalex.org/W2460165177","https://openalex.org/W2107365844","https://openalex.org/W1542736524","https://openalex.org/W2466532096","https://openalex.org/W4415325316","https://openalex.org/W2471268508","https://openalex.org/W2198167570"],"abstract_inverted_index":{"In":[0],"this":[1,86],"study,":[2],"we":[3],"evaluated":[4],"the":[5,8,25,32,41,93,111,120,127,136,146,158],"prevalence":[6,84],"of":[7,15,27,43,85,104,138,157,160],"fragile":[9,44,63,71,105,132,147],"X":[10,45,72,106,133,148],"syndrome":[11,46,73,107,134,149],"in":[12,92,99,119,150,164],"a":[13,37,142,161],"cohort":[14,95],"574":[16],"mentally":[17,151],"retarded":[18,152],"children.":[19],"The":[20,83],"only":[21,128],"inclusion":[22],"criterion":[23],"was":[24,89,108,123,135],"diagnosis":[26,42,163],"mental":[28,139],"retardation":[29],"according":[30],"to":[31,47,60],"DSM-IIIR":[33],"classification.":[34],"We":[35],"used":[36],"PCR-based":[38],"strategy":[39],"for":[40,70,130,145],"facilitate":[48],"systematic":[49,143],"screening.":[50],"This":[51],"diagnostic":[52],"scheme":[53],"is":[54],"based":[55],"on":[56],"an":[57],"initial":[58],"PCR":[59],"eliminate":[61],"most":[62],"X-negative":[64],"patients":[65],"followed":[66],"by":[67],"Southern":[68],"blotting":[69],"diagnosis.":[74],"Altogether,":[75],"403":[76],"boys":[77],"and":[78,96,126],"171":[79,112],"girls":[80,113],"were":[81],"tested.":[82],"genetic":[87,165],"disorder":[88],"1.9%":[90],"(11/574)":[91],"whole":[94],"2.5%":[97],"(10/403)":[98],"boys.":[100],"Only":[101],"one":[102],"case":[103],"detected":[109],"among":[110],"tested":[114],"(0.6%).":[115],"Clinical":[116],"examination,":[117],"especially":[118],"youngest":[121],"children,":[122],"often":[124],"unremarkable,":[125],"reason":[129],"suspecting":[131],"presence":[137],"retardation.":[140],"Thus,":[141],"screening":[144],"children":[153],"seems":[154],"justified":[155],"because":[156],"importance":[159],"precise":[162],"counseling.":[166]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}