{"id":"https://openalex.org/W2045878298","doi":"https://doi.org/10.1002/1097-0142(19920215)69:4<962::aid-cncr2820690421>3.0.co;2-w","title":"Familial microcephaly with normal intelligence in a patient with acute lymphoblastic leukemia","display_name":"Familial microcephaly with normal intelligence in a patient with acute lymphoblastic leukemia","publication_year":1992,"publication_date":"1992-02-15","ids":{"openalex":"https://openalex.org/W2045878298","doi":"https://doi.org/10.1002/1097-0142(19920215)69:4<962::aid-cncr2820690421>3.0.co;2-w","mag":"2045878298","pmid":"https://pubmed.ncbi.nlm.nih.gov/1735087"},"language":"en","primary_location":{"id":"doi:10.1002/1097-0142(19920215)69:4<962::aid-cncr2820690421>3.0.co;2-w","doi":"https://doi.org/10.1002/1097-0142(19920215)69:4<962::aid-cncr2820690421>3.0.co;2-w","is_oa":true,"landing_page_url":"https://doi.org/10.1002/1097-0142(19920215)69:4<962::aid-cncr2820690421>3.0.co;2-w","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/1097-0142%2819920215%2969%3A4%3C962%3A%3AAID-CNCR2820690421%3E3.0.CO%3B2-W","source":{"id":"https://openalex.org/S126033908","display_name":"Cancer","issn_l":"0008-543X","issn":["0008-543X","1045-7410","1097-0142"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"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":"Cancer","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/1097-0142%2819920215%2969%3A4%3C962%3A%3AAID-CNCR2820690421%3E3.0.CO%3B2-W","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5013984680","display_name":"David Heney","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801331674","display_name":"St James's University Hospital","ror":"https://ror.org/013s89d74","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799390153","https://openalex.org/I2801331674"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"D. Heney","raw_affiliation_strings":["Department of Paediatrics, St. James's University Hospital, Leeds, England","Department of Paediatrics, St James's university Hospital, Leeds"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, St. James's University Hospital, Leeds, England","institution_ids":["https://openalex.org/I2801331674"]},{"raw_affiliation_string":"Department of Paediatrics, St James's university Hospital, Leeds","institution_ids":["https://openalex.org/I2801331674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108587402","display_name":"R. Mueller","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801331674","display_name":"St James's University Hospital","ror":"https://ror.org/013s89d74","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799390153","https://openalex.org/I2801331674"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"R. Mueller","raw_affiliation_strings":["Department of Clinical Psychology, St. James's University Hospital, Leeds"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Psychology, St. James's University Hospital, Leeds","institution_ids":["https://openalex.org/I2801331674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040944869","display_name":"G Turner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801331674","display_name":"St James's University Hospital","ror":"https://ror.org/013s89d74","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799390153","https://openalex.org/I2801331674"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"G. Turner","raw_affiliation_strings":["Department of Clinical Psychology, St. James's University Hospital, Leeds"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Psychology, St. James's University Hospital, Leeds","institution_ids":["https://openalex.org/I2801331674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079421731","display_name":"Gulshan Karbani","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801331674","display_name":"St James's University Hospital","ror":"https://ror.org/013s89d74","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799390153","https://openalex.org/I2801331674"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"G. Karbani","raw_affiliation_strings":["Department of Clinical Psychology, St. James's University Hospital, Leeds"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Psychology, St. James's University Hospital, Leeds","institution_ids":["https://openalex.org/I2801331674"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017014899","display_name":"Jacqu\u00e8s Cadranel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1295121038","display_name":"Leeds General Infirmary","ror":"https://ror.org/04hrjej96","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1295121038","https://openalex.org/I2799390153"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"J. Cadranel","raw_affiliation_strings":["Department of Clinical Genetics, The General Infirmary at Leeds, Leeds, England"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, The General Infirmary at Leeds, Leeds, England","institution_ids":["https://openalex.org/I1295121038"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006127629","display_name":"Ian J. Lewis","orcid":"https://orcid.org/0000-0001-7160-9364","observed_orcids":["https://orcid.org/0000-0001-7160-9364"]},"institutions":[{"id":"https://openalex.org/I2801331674","display_name":"St James's University Hospital","ror":"https://ror.org/013s89d74","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799390153","https://openalex.org/I2801331674"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"I. J. Lewis","raw_affiliation_strings":["Department of Paediatrics, St James's university Hospital, Leeds"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, St James's university Hospital, Leeds","institution_ids":["https://openalex.org/I2801331674"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109979849","display_name":"C. C. Bailey","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801331674","display_name":"St James's University Hospital","ror":"https://ror.org/013s89d74","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799390153","https://openalex.org/I2801331674"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"C. C. Bailey","raw_affiliation_strings":["Department of Paediatrics, St James's university Hospital, Leeds"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, St James's university Hospital, Leeds","institution_ids":["https://openalex.org/I2801331674"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4790,"currency":"USD","value_usd":4790},"apc_paid":null,"fwci":0.5225,"has_fulltext":true,"cited_by_count":6,"citation_normalized_percentile":{"value":0.63066645,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"69","issue":"4","first_page":"962","last_page":"965"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10950","display_name":"Acute Lymphoblastic Leukemia research","score":0.5282999873161316,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10950","display_name":"Acute Lymphoblastic Leukemia research","score":0.5282999873161316,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.13979999721050262,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.09080000221729279,"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/normal-intelligence","display_name":"normal intelligence","score":0.7820000052452087},{"id":"https://openalex.org/keywords/acute-lymphoblastic-leukemia","display_name":"acute lymphoblastic leukemia","score":0.9950000047683716},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.9829999804496765},{"id":"https://openalex.org/keywords/chromosomal-instability","display_name":"chromosomal instability","score":0.8320000171661377},{"id":"https://openalex.org/keywords/siblings","display_name":"siblings","score":0.33500000834465027},{"id":"https://openalex.org/keywords/pedigree-analysis","display_name":"pedigree analysis","score":0.42800000309944153}],"concepts":[{"id":"https://openalex.org/C2776395126","wikidata":"https://www.wikidata.org/wiki/Q431643","display_name":"Microcephaly","level":2,"score":0.8815296292304993},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8068258762359619},{"id":"https://openalex.org/C2909962599","wikidata":"https://www.wikidata.org/wiki/Q180664","display_name":"Lymphoblastic Leukemia","level":3,"score":0.6979091763496399},{"id":"https://openalex.org/C2779399171","wikidata":"https://www.wikidata.org/wiki/Q1483951","display_name":"Malignancy","level":2,"score":0.6206941604614258},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.48868468403816223},{"id":"https://openalex.org/C2780902518","wikidata":"https://www.wikidata.org/wiki/Q6033780","display_name":"Inheritance (genetic algorithm)","level":3,"score":0.4801151752471924},{"id":"https://openalex.org/C2778461978","wikidata":"https://www.wikidata.org/wiki/Q29496","display_name":"Leukemia","level":2,"score":0.45124101638793945},{"id":"https://openalex.org/C2776863199","wikidata":"https://www.wikidata.org/wiki/Q976388","display_name":"Acute leukemia","level":3,"score":0.41354331374168396},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.29088014364242554},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.263180673122406},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.26162099838256836},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11875015497207642},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.09265497326850891}],"mesh":[{"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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007119","descriptor_name":"Immunoblastic Lymphadenopathy","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D007361","descriptor_name":"Intelligence Tests","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008831","descriptor_name":"Microcephaly","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D008831","descriptor_name":"Microcephaly","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008831","descriptor_name":"Microcephaly","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D054198","descriptor_name":"Precursor Cell Lymphoblastic Leukemia-Lymphoma","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D054198","descriptor_name":"Precursor Cell Lymphoblastic Leukemia-Lymphoma","qualifier_ui":"Q000188","qualifier_name":"drug therapy","is_major_topic":false},{"descriptor_ui":"D054198","descriptor_name":"Precursor Cell Lymphoblastic Leukemia-Lymphoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1002/1097-0142(19920215)69:4<962::aid-cncr2820690421>3.0.co;2-w","doi":"https://doi.org/10.1002/1097-0142(19920215)69:4<962::aid-cncr2820690421>3.0.co;2-w","is_oa":true,"landing_page_url":"https://doi.org/10.1002/1097-0142(19920215)69:4<962::aid-cncr2820690421>3.0.co;2-w","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/1097-0142%2819920215%2969%3A4%3C962%3A%3AAID-CNCR2820690421%3E3.0.CO%3B2-W","source":{"id":"https://openalex.org/S126033908","display_name":"Cancer","issn_l":"0008-543X","issn":["0008-543X","1045-7410","1097-0142"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"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":"Cancer","raw_type":"journal-article"},{"id":"pmid:1735087","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1735087","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":"Cancer","raw_type":"Case Reports"},{"id":"pmh:oai:lra.le.ac.uk:2381/23319","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2381/23319","pdf_url":null,"source":{"id":"https://openalex.org/S4306402365","display_name":"Leicester Research Archive (University of Leicester)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I153648349","host_organization_name":"University of Leicester","host_organization_lineage":["https://openalex.org/I153648349"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Web of Science","raw_type":"Journal Article"}],"best_oa_location":{"id":"doi:10.1002/1097-0142(19920215)69:4<962::aid-cncr2820690421>3.0.co;2-w","doi":"https://doi.org/10.1002/1097-0142(19920215)69:4<962::aid-cncr2820690421>3.0.co;2-w","is_oa":true,"landing_page_url":"https://doi.org/10.1002/1097-0142(19920215)69:4<962::aid-cncr2820690421>3.0.co;2-w","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/1097-0142%2819920215%2969%3A4%3C962%3A%3AAID-CNCR2820690421%3E3.0.CO%3B2-W","source":{"id":"https://openalex.org/S126033908","display_name":"Cancer","issn_l":"0008-543X","issn":["0008-543X","1045-7410","1097-0142"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"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":"Cancer","raw_type":"journal-article"},"sustainable_development_goals":[{"score":1.0,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2045878298.pdf","grobid_xml":"https://content.openalex.org/works/W2045878298.grobid-xml"},"referenced_works_count":10,"referenced_works":["https://openalex.org/W155289033","https://openalex.org/W1484954434","https://openalex.org/W1973872896","https://openalex.org/W1988276998","https://openalex.org/W2004486431","https://openalex.org/W2011381907","https://openalex.org/W2037626582","https://openalex.org/W2097246782","https://openalex.org/W2139485962","https://openalex.org/W2147159657"],"related_works":["https://openalex.org/W2097246782","https://openalex.org/W1973872896","https://openalex.org/W2059185817","https://openalex.org/W46660927","https://openalex.org/W2474583680","https://openalex.org/W2409507137","https://openalex.org/W2413523174","https://openalex.org/W2412677593","https://openalex.org/W2007862722","https://openalex.org/W2013487966"],"abstract_inverted_index":{"The":[0],"authors":[1,43],"describe":[2],"a":[3],"family":[4],"with":[5,8,38,53],"two":[6],"children":[7],"microcephaly":[9],"and":[10],"normal":[11],"intelligence,":[12],"in":[13,19],"which":[14,41],"acute":[15],"lymphoblastic":[16],"leukemia":[17],"developed":[18],"one":[20],"of":[21,28,46,66,70],"the":[22,33,39,42,47,67],"siblings.":[23],"An":[24],"autosomal":[25],"recessive":[26],"pattern":[27],"inheritance":[29],"is":[30,36,59],"suggested":[31],"by":[32],"pedigree.":[34],"This":[35],"consistent":[37],"literature,":[40],"reviewed.":[44],"All":[45],"patients":[48],"have":[49],"similar":[50],"phenotypic":[51],"features,":[52],"some":[54],"demonstrating":[55],"chromosomal":[56],"instability.":[57],"It":[58],"important":[60],"to":[61],"recognize":[62],"this":[63],"syndrome":[64],"because":[65],"increased":[68],"risk":[69],"lymphoreticular":[71],"malignancy.":[72]},"counts_by_year":[{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}