{"id":"https://openalex.org/W2095366383","doi":"https://doi.org/10.1002/ajmg.a.36583","title":"Abnormal brain magnetic resonance imaging in two patients with Smith\u2013Magenis syndrome","display_name":"Abnormal brain magnetic resonance imaging in two patients with Smith\u2013Magenis syndrome","publication_year":2014,"publication_date":"2014-04-30","ids":{"openalex":"https://openalex.org/W2095366383","doi":"https://doi.org/10.1002/ajmg.a.36583","mag":"2095366383","pmid":"https://pubmed.ncbi.nlm.nih.gov/24788350"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.36583","doi":"https://doi.org/10.1002/ajmg.a.36583","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.36583","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","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":"American Journal of Medical Genetics Part A","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/A5011505529","display_name":"Idit Maya","orcid":"https://orcid.org/0000-0002-8517-0812","observed_orcids":["https://orcid.org/0000-0002-8517-0812"]},"institutions":[{"id":"https://openalex.org/I2800389475","display_name":"Rabin Medical Center","ror":"https://ror.org/01vjtf564","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2800389475","https://openalex.org/I64767286"]}],"countries":["IL"],"is_corresponding":true,"raw_author_name":"Idit Maya","raw_affiliation_strings":["The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel","institution_ids":["https://openalex.org/I2800389475"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002467836","display_name":"Chana Vinkler","orcid":"https://orcid.org/0000-0001-5991-4534","observed_orcids":["https://orcid.org/0000-0001-5991-4534"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I2800717019","display_name":"Wolfson Medical Center","ror":"https://ror.org/04ayype77","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2800717019"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Chana Vinkler","raw_affiliation_strings":["Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","Wolfson Medical Center, Holon, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"Wolfson Medical Center, Holon, Israel","institution_ids":["https://openalex.org/I2800717019"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023136180","display_name":"Osnat Konen","orcid":"https://orcid.org/0000-0002-6265-6705","observed_orcids":["https://orcid.org/0000-0002-6265-6705"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I4210109312","display_name":"Schneider Children's Medical Center","ror":"https://ror.org/01z3j3n30","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I4210109312"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Osnat Konen","raw_affiliation_strings":["Imaging Department, Schneider Children's Medical Center of Israel, Petah Tikva, Israel","Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Imaging Department, Schneider Children's Medical Center of Israel, Petah Tikva, Israel","institution_ids":["https://openalex.org/I4210109312"]},{"raw_affiliation_string":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023814852","display_name":"Liora Kornreich","orcid":"https://orcid.org/0000-0002-4456-3417","observed_orcids":["https://orcid.org/0000-0002-4456-3417"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I4210109312","display_name":"Schneider Children's Medical Center","ror":"https://ror.org/01z3j3n30","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I4210109312"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Liora Kornreich","raw_affiliation_strings":["Imaging Department, Schneider Children's Medical Center of Israel, Petah Tikva, Israel","Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Imaging Department, Schneider Children's Medical Center of Israel, Petah Tikva, Israel","institution_ids":["https://openalex.org/I4210109312"]},{"raw_affiliation_string":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111670153","display_name":"Tamar Steinberg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I4210109312","display_name":"Schneider Children's Medical Center","ror":"https://ror.org/01z3j3n30","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I4210109312"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Tamar Steinberg","raw_affiliation_strings":["Neurology Department, Schneider Children's Medical Center of Israel, Petah Tikva, Israel","Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Neurology Department, Schneider Children's Medical Center of Israel, Petah Tikva, Israel","institution_ids":["https://openalex.org/I4210109312"]},{"raw_affiliation_string":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006165273","display_name":"Josepha Yeshaya","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800389475","display_name":"Rabin Medical Center","ror":"https://ror.org/01vjtf564","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2800389475","https://openalex.org/I64767286"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Josepha Yeshaya","raw_affiliation_strings":["The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel","institution_ids":["https://openalex.org/I2800389475"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078878895","display_name":"Victoria Latarowski","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800389475","display_name":"Rabin Medical Center","ror":"https://ror.org/01vjtf564","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2800389475","https://openalex.org/I64767286"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Victoria Latarowski","raw_affiliation_strings":["The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel","institution_ids":["https://openalex.org/I2800389475"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111973265","display_name":"Mordechai Shohat","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I2800389475","display_name":"Rabin Medical Center","ror":"https://ror.org/01vjtf564","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2800389475","https://openalex.org/I64767286"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Mordechai Shohat","raw_affiliation_strings":["Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel","institution_ids":["https://openalex.org/I2800389475"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004678155","display_name":"Dorit Lev","orcid":"https://orcid.org/0000-0001-6869-6727","observed_orcids":["https://orcid.org/0000-0001-6869-6727"]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I2800717019","display_name":"Wolfson Medical Center","ror":"https://ror.org/04ayype77","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2800717019"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Dorit Lev","raw_affiliation_strings":["Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","Wolfson Medical Center, Holon, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"Wolfson Medical Center, Holon, Israel","institution_ids":["https://openalex.org/I2800717019"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111545909","display_name":"Hagit N. Baris","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16391192","display_name":"Tel Aviv University","ror":"https://ror.org/04mhzgx49","country_code":"IL","type":"education","lineage":["https://openalex.org/I16391192"]},{"id":"https://openalex.org/I2800389475","display_name":"Rabin Medical Center","ror":"https://ror.org/01vjtf564","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2800389475","https://openalex.org/I64767286"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Hagit N. Baris","raw_affiliation_strings":["Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel","institution_ids":["https://openalex.org/I16391192"]},{"raw_affiliation_string":"The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel","institution_ids":["https://openalex.org/I2800389475"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5011505529"],"corresponding_institution_ids":["https://openalex.org/I2800389475"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":1.3101,"has_fulltext":false,"cited_by_count":51,"citation_normalized_percentile":{"value":0.80341569,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":100},"biblio":{"volume":"164","issue":"8","first_page":"1940","last_page":"1946"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.989300012588501,"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":0.989300012588501,"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/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.006899999920278788,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.0017999999690800905,"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/smith-magenis-syndrome","display_name":"Smith-Magenis syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/chromosome-17p11-2-deletion","display_name":"chromosome 17p11.2 deletion","score":0.9470000267028809},{"id":"https://openalex.org/keywords/brain-malformations","display_name":"brain malformations","score":0.8389999866485596},{"id":"https://openalex.org/keywords/gray-matter-heterotopia","display_name":"gray matter heterotopia","score":0.8410000205039978},{"id":"https://openalex.org/keywords/thin-corpus-callosum","display_name":"thin corpus callosum","score":0.8920000195503235},{"id":"https://openalex.org/keywords/cerebellar-vermis-hypoplasia","display_name":"cerebellar vermis hypoplasia","score":0.9580000042915344},{"id":"https://openalex.org/keywords/neurobehavioral-phenotype","display_name":"neurobehavioral phenotype","score":0.6949999928474426},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.8149999976158142},{"id":"https://openalex.org/keywords/self-harm","display_name":"self-harm","score":0.7630000114440918},{"id":"https://openalex.org/keywords/sleep-disturbance","display_name":"sleep disorders","score":0.9169999957084656}],"concepts":[{"id":"https://openalex.org/C2778183499","wikidata":"https://www.wikidata.org/wiki/Q223851","display_name":"Corpus callosum","level":2,"score":0.6402504444122314},{"id":"https://openalex.org/C143409427","wikidata":"https://www.wikidata.org/wiki/Q161238","display_name":"Magnetic resonance imaging","level":2,"score":0.6144378185272217},{"id":"https://openalex.org/C2780168142","wikidata":"https://www.wikidata.org/wiki/Q3078809","display_name":"Cerebellar vermis","level":3,"score":0.6075974702835083},{"id":"https://openalex.org/C2781133459","wikidata":"https://www.wikidata.org/wiki/Q896643","display_name":"Brachydactyly","level":3,"score":0.5677034854888916},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5650995373725891},{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.4526330530643463},{"id":"https://openalex.org/C551499885","wikidata":"https://www.wikidata.org/wiki/Q183560","display_name":"Intellectual disability","level":2,"score":0.4267573356628418},{"id":"https://openalex.org/C2780327212","wikidata":"https://www.wikidata.org/wiki/Q1568160","display_name":"Hypoplasia","level":2,"score":0.4199655055999756},{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.3460734486579895},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.30907848477363586},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.30597633123397827},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2660365104675293},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.19420015811920166},{"id":"https://openalex.org/C2779652256","wikidata":"https://www.wikidata.org/wiki/Q130983","display_name":"Cerebellum","level":2,"score":0.16972589492797852},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.13367632031440735}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"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":false},{"descriptor_ui":"D002886","descriptor_name":"Chromosomes, Human, Pair 17","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":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019066","descriptor_name":"Facies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D055815","descriptor_name":"Young Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D058496","descriptor_name":"Smith-Magenis Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D058496","descriptor_name":"Smith-Magenis Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.a.36583","doi":"https://doi.org/10.1002/ajmg.a.36583","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.36583","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","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":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:24788350","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24788350","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. Part A","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":31,"referenced_works":["https://openalex.org/W40736208","https://openalex.org/W181881221","https://openalex.org/W1541666340","https://openalex.org/W1598430865","https://openalex.org/W1979307607","https://openalex.org/W1980883886","https://openalex.org/W1985421431","https://openalex.org/W1988293854","https://openalex.org/W1998153605","https://openalex.org/W2009506529","https://openalex.org/W2011240737","https://openalex.org/W2013359752","https://openalex.org/W2015222390","https://openalex.org/W2015339639","https://openalex.org/W2017940495","https://openalex.org/W2026303834","https://openalex.org/W2039531029","https://openalex.org/W2039892043","https://openalex.org/W2056193687","https://openalex.org/W2063739305","https://openalex.org/W2084434716","https://openalex.org/W2091807678","https://openalex.org/W2096422792","https://openalex.org/W2100842106","https://openalex.org/W2113229111","https://openalex.org/W2159419444","https://openalex.org/W2164731417","https://openalex.org/W2164802422","https://openalex.org/W2167802516","https://openalex.org/W2171370051","https://openalex.org/W7073794252"],"related_works":["https://openalex.org/W2015222390","https://openalex.org/W2271403896","https://openalex.org/W2071334458","https://openalex.org/W58342254","https://openalex.org/W2415714658","https://openalex.org/W1985421431","https://openalex.org/W4237474900","https://openalex.org/W2149874791","https://openalex.org/W4251222549","https://openalex.org/W136452705"],"abstract_inverted_index":{"Smith-Magenis":[0],"syndrome":[1,9],"(SMS)":[2],"is":[3],"a":[4,24,51,103,127,131,170],"clinically":[5],"recognizable":[6],"contiguous":[7],"gene":[8],"ascribed":[10],"to":[11],"an":[12],"interstitial":[13],"deletion":[14,26,92],"in":[15,69,77,93,149,158,165,179,183,186,192,197],"chromosome":[16],"17p11.2.":[17],"Seventy":[18],"percent":[19],"of":[20,34,137],"SMS":[21,35,48,87,150,166,182],"patients":[22,49,78,85,101,167,180,187,199],"have":[23,50],"common":[25,91,171],"interval":[27],"spanning":[28],"3.5":[29],"megabases":[30],"(Mb).":[31],"Clinical":[32],"features":[33],"include":[36],"characteristic":[37],"mild":[38],"dysmorphic":[39],"features,":[40],"ocular":[41],"anomalies,":[42],"short":[43],"stature,":[44],"brachydactyly,":[45],"and":[46,61,107,123,135,151,185],"hypotonia.":[47],"unique":[52],"neurobehavioral":[53],"phenotype":[54],"that":[55],"includes":[56],"intellectual":[57],"disability,":[58],"self-injurious":[59],"behavior":[60],"severe":[62],"sleep":[63],"disturbance.":[64],"Little":[65],"has":[66],"been":[67],"reported":[68],"the":[70,90,124,138,144,153,202],"medical":[71],"literature":[72,154],"about":[73],"anatomical":[74],"brain":[75,109,133,156,163,177,195],"anomalies":[76],"with":[79,86,181,188],"SMS.":[80,159],"Here":[81],"we":[82,173],"describe":[83],"two":[84],"caused":[88],"by":[89],"17p11.2":[94],"diagnosed":[95],"using":[96],"chromosomal":[97,189],"microarray":[98],"(CMA).":[99],"Both":[100],"had":[102,117,126],"typical":[104],"clinical":[105],"presentation":[106],"abnormal":[108,146],"magnetic":[110],"resonance":[111],"imaging":[112,178],"(MRI)":[113],"findings.":[114],"One":[115],"patient":[116],"subependymal":[118],"periventricular":[119],"gray":[120],"matter":[121],"heterotopia,":[122],"second":[125],"thin":[128,132],"corpus":[129],"callosum,":[130],"stem":[134],"hypoplasia":[136],"cerebellar":[139],"vermis.":[140],"This":[141],"report":[142],"discusses":[143],"possible":[145],"MRI":[147],"images":[148],"reviews":[152],"on":[155],"malformations":[157,164,196],"Finally,":[160],"although":[161],"structural":[162],"are":[168],"not":[169],"feature,":[172],"suggest":[174],"baseline":[175],"routine":[176],"particular,":[184],"microdeletion/microduplication":[190],"syndromes":[191],"general.":[193],"Structural":[194],"these":[198],"may":[200],"affect":[201],"decision-making":[203],"process":[204],"regarding":[205],"their":[206],"management.":[207]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":33},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}