{"id":"https://openalex.org/W24048935","doi":null,"title":"Perspectives on holoprosencephaly: Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies.","display_name":"Perspectives on holoprosencephaly: Part II. Central nervous system, craniofacial anatomy, syndrome commentary, diagnostic approach, and experimental studies.","publication_year":1992,"publication_date":"1992-10-01","ids":{"openalex":"https://openalex.org/W24048935","mag":"24048935","pmid":"https://pubmed.ncbi.nlm.nih.gov/1494025"},"language":"en","primary_location":{"id":"pmid:1494025","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1494025","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":"Journal of craniofacial genetics and developmental biology","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/A5110413997","display_name":"Cohen Mm","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I129902397","display_name":"Dalhousie University","ror":"https://ror.org/01e6qks80","country_code":"CA","type":"education","lineage":["https://openalex.org/I129902397"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"M M Cohen","raw_affiliation_strings":["Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, NS, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, NS, Canada","institution_ids":["https://openalex.org/I129902397"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109045195","display_name":"Kathleen K. Sulik","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I129902397","display_name":"Dalhousie University","ror":"https://ror.org/01e6qks80","country_code":"CA","type":"education","lineage":["https://openalex.org/I129902397"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"K K Sulik","raw_affiliation_strings":["Dalhousie University#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dalhousie University#TAB#","institution_ids":["https://openalex.org/I129902397"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I129902397"],"apc_list":null,"apc_paid":null,"fwci":8.1526,"has_fulltext":false,"cited_by_count":139,"citation_normalized_percentile":{"value":0.97752957,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":87,"max":98},"biblio":{"volume":"12","issue":"4","first_page":"196","last_page":"244"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child 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/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T13738","display_name":"Congenital Ear and Nasal Anomalies","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/holoprosencephaly","display_name":"holoprosencephaly","score":1.0},{"id":"https://openalex.org/keywords/central-nervous-system-abnormalities","display_name":"central nervous system malformations","score":0.781000018119812},{"id":"https://openalex.org/keywords/craniofacial-anatomy","display_name":"craniofacial anatomy","score":0.9200000166893005},{"id":"https://openalex.org/keywords/associated-syndromes","display_name":"associated syndromes","score":0.800000011920929},{"id":"https://openalex.org/keywords/differential-diagnosis","display_name":"differential diagnosis","score":0.8169999718666077},{"id":"https://openalex.org/keywords/experimental-model","display_name":"experimental model","score":0.6980000138282776},{"id":"https://openalex.org/keywords/etiology","display_name":"etiology","score":0.6930000185966492},{"id":"https://openalex.org/keywords/pathogenesis","display_name":"pathogenesis","score":0.9599999785423279}],"concepts":[{"id":"https://openalex.org/C2781374659","wikidata":"https://www.wikidata.org/wiki/Q1459821","display_name":"Holoprosencephaly","level":4,"score":0.9921287298202515},{"id":"https://openalex.org/C2781245598","wikidata":"https://www.wikidata.org/wiki/Q5182134","display_name":"Craniofacial","level":2,"score":0.8444489240646362},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.46490252017974854},{"id":"https://openalex.org/C529278444","wikidata":"https://www.wikidata.org/wiki/Q47273","display_name":"Central nervous system","level":2,"score":0.45423999428749084},{"id":"https://openalex.org/C2778951934","wikidata":"https://www.wikidata.org/wiki/Q5182137","display_name":"Craniofacial abnormality","level":3,"score":0.4523528218269348},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.44060018658638},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3760995864868164},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.323373019695282},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.09223651885986328},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.05593821406364441},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.0},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000818","descriptor_name":"Animals","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002490","descriptor_name":"Central Nervous System","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D002490","descriptor_name":"Central Nervous System","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false},{"descriptor_ui":"D002882","descriptor_name":"Chromosomes, Human, Pair 13","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002897","descriptor_name":"Chromosomes, Human, Pair 7","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002898","descriptor_name":"Chromosomes, Human, Pair 8","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005147","descriptor_name":"Facial Bones","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012886","descriptor_name":"Skull","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D014057","descriptor_name":"Tomography, X-Ray Computed","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016142","descriptor_name":"Holoprosencephaly","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D016142","descriptor_name":"Holoprosencephaly","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D016142","descriptor_name":"Holoprosencephaly","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:1494025","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1494025","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":"Journal of craniofacial genetics and developmental biology","raw_type":"Journal Article"},{"id":"mag:24048935","doi":null,"is_oa":false,"landing_page_url":"https://europepmc.org/article/MED/1494025","pdf_url":null,"source":{"id":"https://openalex.org/S481500","display_name":"Journal of craniofacial genetics and developmental biology","issn_l":"0270-4145","issn":["0270-4145"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"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":null,"is_accepted":false,"is_published":false,"raw_source_name":"Journal of craniofacial genetics and developmental biology","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.5683000087738037,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W2001784063","https://openalex.org/W1500048426","https://openalex.org/W2159648246","https://openalex.org/W2016016611","https://openalex.org/W2085523626","https://openalex.org/W2084771878","https://openalex.org/W2123213117","https://openalex.org/W2016780828","https://openalex.org/W2009125262","https://openalex.org/W1976768079","https://openalex.org/W1819703010","https://openalex.org/W2044887439","https://openalex.org/W2614638388","https://openalex.org/W1590913997","https://openalex.org/W2103683332","https://openalex.org/W2061377113","https://openalex.org/W2093279832","https://openalex.org/W2110232607","https://openalex.org/W1963506121","https://openalex.org/W1981716282","https://openalex.org/W2070585173","https://openalex.org/W2049784603","https://openalex.org/W2094643072"],"related_works":["https://openalex.org/W2092356408","https://openalex.org/W2423836962","https://openalex.org/W2412834413","https://openalex.org/W2059568147","https://openalex.org/W2054471652","https://openalex.org/W2016599381","https://openalex.org/W1974225220","https://openalex.org/W2319260695","https://openalex.org/W2119687742","https://openalex.org/W2043333385"],"abstract_inverted_index":{"This":[0],"paper":[1],"presents":[2],"an":[3],"updated":[4,27],"analytic":[5],"review":[6],"of":[7,47],"the":[8,53],"holoprosencephalic":[9,54],"disorders.":[10],"Central":[11],"nervous":[12],"system":[13],"findings":[14],"and":[15,24,41,74],"craniofacial":[16],"anatomy":[17],"are":[18,26,64],"discussed":[19],"in":[20],"depth.":[21],"Associated":[22],"anomalies":[23,40],"syndromes":[25,37],"with":[28],"a":[29],"syndrome":[30],"commentary":[31],"that":[32,50,67],"attempts":[33],"to":[34,62,70],"separate":[35],"durable":[36],"from":[38],"associated":[39],"spurious":[42],"entities.":[43],"The":[44],"differential":[45],"diagnosis":[46],"various":[48],"conditions":[49],"may":[51],"simulate":[52],"disorders":[55],"is":[56],"also":[57],"discussed.":[58],"Various":[59],"experimental":[60],"approaches":[61],"holoprosencephaly":[63,68],"reviewed,":[65],"indicating":[66],"appears":[69],"be":[71],"both":[72],"etiologically":[73],"pathogenetically":[75],"heterogeneous.":[76]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":3},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":6},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}