{"id":"https://openalex.org/W2004960934","doi":"https://doi.org/10.1002/ajmg.1320400424","title":"Neurological aspects of del(1q) syndrome","display_name":"Neurological aspects of del(1q) syndrome","publication_year":1991,"publication_date":"1991-09-15","ids":{"openalex":"https://openalex.org/W2004960934","doi":"https://doi.org/10.1002/ajmg.1320400424","mag":"2004960934","pmid":"https://pubmed.ncbi.nlm.nih.gov/1746617"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.1320400424","doi":"https://doi.org/10.1002/ajmg.1320400424","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.1320400424","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/A5084472922","display_name":"Keiko Murayama","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I114027177","display_name":"University of North Carolina at Chapel Hill","ror":"https://ror.org/0130frc33","country_code":"US","type":"education","lineage":["https://openalex.org/I114027177"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Keiko Murayama","raw_affiliation_strings":["Department of Neurology, School of Medicine, University of North Carolina, Chapel Hill 27599-7025","Department of Neurology, School of Medicine, University of North Carolina, Chapel Hill"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, School of Medicine, University of North Carolina, Chapel Hill 27599-7025","institution_ids":["https://openalex.org/I114027177"]},{"raw_affiliation_string":"Department of Neurology, School of Medicine, University of North Carolina, Chapel Hill","institution_ids":["https://openalex.org/I114027177"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037746759","display_name":"Robert Greenwood","orcid":"https://orcid.org/0000-0002-6231-0253","observed_orcids":["https://orcid.org/0000-0002-6231-0253"]},"institutions":[{"id":"https://openalex.org/I114027177","display_name":"University of North Carolina at Chapel Hill","ror":"https://ror.org/0130frc33","country_code":"US","type":"education","lineage":["https://openalex.org/I114027177"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robert S. Greenwood","raw_affiliation_strings":["Department of Neurology, School of Medicine, University of North Carolina, Chapel Hill","Department of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, School of Medicine, University of North Carolina, Chapel Hill","institution_ids":["https://openalex.org/I114027177"]},{"raw_affiliation_string":"Department of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill","institution_ids":["https://openalex.org/I114027177"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108420646","display_name":"Kathleen W. Rao","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I114027177","display_name":"University of North Carolina at Chapel Hill","ror":"https://ror.org/0130frc33","country_code":"US","type":"education","lineage":["https://openalex.org/I114027177"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kathleen W. Rao","raw_affiliation_strings":["Department of Pathology, School of Medicine, University of North Carolina, Chapel Hill","Department of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill","The Brain and Development Research Center, School of Medicine, University of North Carolina, Chapel Hill"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, School of Medicine, University of North Carolina, Chapel Hill","institution_ids":["https://openalex.org/I114027177"]},{"raw_affiliation_string":"Department of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill","institution_ids":["https://openalex.org/I114027177"]},{"raw_affiliation_string":"The Brain and Development Research Center, School of Medicine, University of North Carolina, Chapel Hill","institution_ids":["https://openalex.org/I114027177"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5074943865","display_name":"Arthur S. Aylsworth","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I114027177","display_name":"University of North Carolina at Chapel Hill","ror":"https://ror.org/0130frc33","country_code":"US","type":"education","lineage":["https://openalex.org/I114027177"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Arthur S. Aylsworth","raw_affiliation_strings":["Department of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill","The Brain and Development Research Center, School of Medicine, University of North Carolina, Chapel Hill"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, School of Medicine, University of North Carolina, Chapel Hill","institution_ids":["https://openalex.org/I114027177"]},{"raw_affiliation_string":"The Brain and Development Research Center, School of Medicine, University of North Carolina, Chapel Hill","institution_ids":["https://openalex.org/I114027177"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5084472922"],"corresponding_institution_ids":["https://openalex.org/I114027177"],"apc_list":null,"apc_paid":null,"fwci":0.4277,"has_fulltext":false,"cited_by_count":30,"citation_normalized_percentile":{"value":0.61643164,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"40","issue":"4","first_page":"488","last_page":"492"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9653000235557556,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9653000235557556,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.02669999934732914,"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/T10106","display_name":"Autism Spectrum Disorder Research","score":0.003100000089034438,"subfield":{"id":"https://openalex.org/subfields/2805","display_name":"Cognitive 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/autism-like-behavior","display_name":"autism-like behavior","score":0.6919999718666077},{"id":"https://openalex.org/keywords/psychomotor-delay","display_name":"psychomotor delay","score":0.9200000166893005},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.9869999885559082},{"id":"https://openalex.org/keywords/seizures","display_name":"seizures","score":0.9879999756813049},{"id":"https://openalex.org/keywords/stereotyped-movements","display_name":"stereotyped movements","score":0.8650000095367432},{"id":"https://openalex.org/keywords/speech-abnormalities","display_name":"speech abnormalities","score":0.42399999499320984},{"id":"https://openalex.org/keywords/neurological-symptoms","display_name":"neurological symptoms","score":0.4449999928474426}],"concepts":[{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.8453912734985352},{"id":"https://openalex.org/C164953862","wikidata":"https://www.wikidata.org/wiki/Q7256440","display_name":"Psychomotor learning","level":3,"score":0.5636172294616699},{"id":"https://openalex.org/C2781045179","wikidata":"https://www.wikidata.org/wiki/Q5576720","display_name":"Intonation (linguistics)","level":2,"score":0.5564548969268799},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.520176887512207},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.4791002571582794},{"id":"https://openalex.org/C2776202747","wikidata":"https://www.wikidata.org/wiki/Q3064951","display_name":"Psychomotor retardation","level":3,"score":0.46037063002586365},{"id":"https://openalex.org/C2779664074","wikidata":"https://www.wikidata.org/wiki/Q3518405","display_name":"Terminal (telecommunication)","level":2,"score":0.43070730566978455},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3811028301715851},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.36556726694107056},{"id":"https://openalex.org/C138496976","wikidata":"https://www.wikidata.org/wiki/Q175002","display_name":"Developmental psychology","level":1,"score":0.33386093378067017},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.3316577672958374},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3136236071586609},{"id":"https://openalex.org/C169900460","wikidata":"https://www.wikidata.org/wiki/Q2200417","display_name":"Cognition","level":2,"score":0.19284659624099731},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.11474493145942688},{"id":"https://openalex.org/C138885662","wikidata":"https://www.wikidata.org/wiki/Q5891","display_name":"Philosophy","level":0,"score":0.0715666115283966},{"id":"https://openalex.org/C204787440","wikidata":"https://www.wikidata.org/wiki/Q188504","display_name":"Alternative medicine","level":2,"score":0.0},{"id":"https://openalex.org/C76155785","wikidata":"https://www.wikidata.org/wiki/Q418","display_name":"Telecommunications","level":1,"score":0.0},{"id":"https://openalex.org/C41895202","wikidata":"https://www.wikidata.org/wiki/Q8162","display_name":"Linguistics","level":1,"score":0.0},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D001321","descriptor_name":"Autistic Disorder","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"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":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002878","descriptor_name":"Chromosomes, Human, Pair 1","qualifier_ui":null,"qualifier_name":null,"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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009123","descriptor_name":"Muscle Hypotonia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010699","descriptor_name":"Phonation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011596","descriptor_name":"Psychomotor Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012640","descriptor_name":"Seizures","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.1320400424","doi":"https://doi.org/10.1002/ajmg.1320400424","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.1320400424","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:1746617","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1746617","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":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":31,"referenced_works":["https://openalex.org/W190344050","https://openalex.org/W885284900","https://openalex.org/W1500572586","https://openalex.org/W1535457559","https://openalex.org/W1963572180","https://openalex.org/W1975323921","https://openalex.org/W1976099880","https://openalex.org/W1980858542","https://openalex.org/W1986876135","https://openalex.org/W2008944683","https://openalex.org/W2010765002","https://openalex.org/W2016101512","https://openalex.org/W2018889837","https://openalex.org/W2024879950","https://openalex.org/W2049359619","https://openalex.org/W2050893887","https://openalex.org/W2093284773","https://openalex.org/W2135632515","https://openalex.org/W2148623341","https://openalex.org/W2160446134","https://openalex.org/W2402178575","https://openalex.org/W2407741311","https://openalex.org/W2410604880","https://openalex.org/W2412858548","https://openalex.org/W2413539023","https://openalex.org/W2428025207","https://openalex.org/W2432673828","https://openalex.org/W4243567268","https://openalex.org/W6632022143","https://openalex.org/W6713691422","https://openalex.org/W6718057186"],"related_works":["https://openalex.org/W1995337408","https://openalex.org/W2060166184","https://openalex.org/W2011326235","https://openalex.org/W2069567868","https://openalex.org/W2093041191","https://openalex.org/W2148623341","https://openalex.org/W39433607","https://openalex.org/W2413539023","https://openalex.org/W1980858542","https://openalex.org/W2058342852"],"abstract_inverted_index":{"We":[0,111],"have":[1,20,35,46],"studied":[2],"three":[3,44],"children":[4],"with":[5,88],"de":[6],"novo":[7],"terminal":[8,123],"deletion":[9],"of":[10,14,42,83,121],"the":[11],"long":[12],"arm":[13],"chromosome":[15],"1":[16],"(46,XX,del(1)(q43)).":[17],"They":[18,49,73,103],"all":[19,41],"minor":[21],"anomalies":[22],"and":[23,32,61,69,93,97],"neurological":[24],"signs":[25],"(severe":[26],"psychomotor":[27],"developmental":[28],"delay,":[29],"generalized":[30],"hypotonia,":[31],"seizures)":[33],"that":[34,113],"been":[36],"described":[37],"previously.":[38],"In":[39],"addition,":[40],"these":[43,114],"patients":[45],"autistic-like":[47],"behavior.":[48],"avoid":[50],"eye":[51],"contact,":[52],"show":[53],"no":[54,105],"interest":[55],"in":[56,78,91,100],"people,":[57],"express":[58],"little":[59,89],"emotion,":[60],"repeat":[62],"stereotypic":[63],"movements":[64],"such":[65],"as":[66],"head":[67],"nodding":[68],"purposeless":[70],"finger":[71],"manipulation.":[72],"also":[74],"spend":[75],"excessive":[76],"time":[77],"making":[79],"unusual":[80],"sounds":[81],"consisting":[82],"a":[84,94],"high-pitched":[85],"shrill":[86],"cry":[87],"intonation":[90],"infancy":[92],"harsh,":[95],"strained,":[96],"glottal":[98],"stridency":[99],"later":[101],"life.":[102],"make":[104],"labial,":[106],"lingual,":[107],"or":[108],"nasal":[109],"sounds.":[110],"suggest":[112],"observations":[115],"may":[116],"be":[117],"unique":[118],"clinical":[119],"manifestations":[120],"certain":[122],"1q":[124],"deletions.":[125]},"counts_by_year":[{"year":2023,"cited_by_count":1},{"year":2016,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}