{"id":"https://openalex.org/W2117988032","doi":"https://doi.org/10.1136/jmg.2007.053017","title":"The genetic aetiology of Silver\u2013Russell syndrome","display_name":"The genetic aetiology of Silver\u2013Russell syndrome","publication_year":2007,"publication_date":"2007-12-21","ids":{"openalex":"https://openalex.org/W2117988032","doi":"https://doi.org/10.1136/jmg.2007.053017","mag":"2117988032","pmid":"https://pubmed.ncbi.nlm.nih.gov/18156438"},"language":"en","primary_location":{"id":"doi:10.1136/jmg.2007.053017","doi":"https://doi.org/10.1136/jmg.2007.053017","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.2007.053017","pdf_url":"https://jmg.bmj.com/content/jmedgenet/45/4/193.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://jmg.bmj.com/content/jmedgenet/45/4/193.full.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5029633237","display_name":"Sayeda Nasreen Abu-Amero","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"S Abu-Amero","raw_affiliation_strings":["Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK","Institute of Child Health, University College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK","institution_ids":["https://openalex.org/I45129253"]},{"raw_affiliation_string":"Institute of Child Health, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113921846","display_name":"David Monk","orcid":"https://orcid.org/0000-0001-8991-0497","observed_orcids":["https://orcid.org/0000-0001-8991-0497"]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"D Monk","raw_affiliation_strings":["Institute of Child Health, University College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Child Health, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041299643","display_name":"Jennifer M. Frost","orcid":"https://orcid.org/0000-0002-3057-6313","observed_orcids":["https://orcid.org/0000-0002-3057-6313"]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"J Frost","raw_affiliation_strings":["Institute of Child Health, University College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Child Health, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103344957","display_name":"Michael A. Preece","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M Preece","raw_affiliation_strings":["Institute of Child Health, University College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Child Health, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065312750","display_name":"Philip Stanier","orcid":"https://orcid.org/0000-0001-9340-8117","observed_orcids":["https://orcid.org/0000-0001-9340-8117"]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"P Stanier","raw_affiliation_strings":["Institute of Child Health, University College London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Child Health, University College London, London, UK","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5028228166","display_name":"Gudrun E. Moore","orcid":"https://orcid.org/0000-0002-2099-3420","observed_orcids":["https://orcid.org/0000-0002-2099-3420"]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"G E Moore","raw_affiliation_strings":["Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK","institution_ids":["https://openalex.org/I45129253"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5028228166"],"corresponding_institution_ids":["https://openalex.org/I45129253"],"apc_list":null,"apc_paid":null,"fwci":1.9417,"has_fulltext":true,"cited_by_count":196,"citation_normalized_percentile":{"value":0.86868687,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":100},"biblio":{"volume":"45","issue":"4","first_page":"193","last_page":"199"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11928","display_name":"Genetic Syndromes and Imprinting","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/T11928","display_name":"Genetic Syndromes and Imprinting","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/T11213","display_name":"Genomic variations and chromosomal abnormalities","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"}},{"id":"https://openalex.org/T11629","display_name":"Birth, Development, and Health","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/silver-russell-syndrome","display_name":"Silver-Russell syndrome","score":0.9959999918937683},{"id":"https://openalex.org/keywords/genetic-aetiology","display_name":"genetic aetiology","score":0.9430000185966492},{"id":"https://openalex.org/keywords/growth-restriction","display_name":"growth restriction","score":0.7229999899864197},{"id":"https://openalex.org/keywords/genomic-imprinting","display_name":"genomic imprinting","score":0.7639999985694885},{"id":"https://openalex.org/keywords/chromosome-7","display_name":"chromosome 7","score":0.6610000133514404},{"id":"https://openalex.org/keywords/maternal-uniparental-disomy","display_name":"maternal uniparental disomy","score":0.878000020980835},{"id":"https://openalex.org/keywords/chromosome-11","display_name":"chromosome 11","score":0.9259999990463257},{"id":"https://openalex.org/keywords/beckwith-wiedemann-syndrome","display_name":"Beckwith-Wiedemann syndrome","score":0.9769999980926514},{"id":"https://openalex.org/keywords/mode-of-inheritance","display_name":"mode of inheritance","score":0.5920000076293945}],"concepts":[{"id":"https://openalex.org/C201492766","wikidata":"https://www.wikidata.org/wiki/Q84087","display_name":"Genomic imprinting","level":5,"score":0.7344655990600586},{"id":"https://openalex.org/C2777575177","wikidata":"https://www.wikidata.org/wiki/Q521863","display_name":"Beckwith\u2013Wiedemann syndrome","level":5,"score":0.7000473737716675},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6392648816108704},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.593280017375946},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5725143551826477},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.4815269112586975},{"id":"https://openalex.org/C2780332060","wikidata":"https://www.wikidata.org/wiki/Q1207929","display_name":"Uniparental disomy","level":5,"score":0.4646645784378052},{"id":"https://openalex.org/C2778088499","wikidata":"https://www.wikidata.org/wiki/Q2880638","display_name":"Hemihypertrophy","level":2,"score":0.42666077613830566},{"id":"https://openalex.org/C94715292","wikidata":"https://www.wikidata.org/wiki/Q624349","display_name":"Imprinting (psychology)","level":3,"score":0.41927242279052734},{"id":"https://openalex.org/C137627325","wikidata":"https://www.wikidata.org/wiki/Q156318","display_name":"Etiology","level":2,"score":0.4122288227081299},{"id":"https://openalex.org/C190727270","wikidata":"https://www.wikidata.org/wiki/Q874745","display_name":"DNA methylation","level":4,"score":0.32972171902656555},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.32413655519485474},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2686583995819092},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.24199354648590088},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.21680009365081787},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.16802620887756348},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002880","descriptor_name":"Chromosomes, Human, Pair 11","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002897","descriptor_name":"Chromosomes, Human, Pair 7","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005317","descriptor_name":"Fetal Growth Retardation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","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":"D008957","descriptor_name":"Models, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019175","descriptor_name":"DNA Methylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019465","descriptor_name":"Craniofacial Abnormalities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D024182","descriptor_name":"Uniparental Disomy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1136/jmg.2007.053017","doi":"https://doi.org/10.1136/jmg.2007.053017","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.2007.053017","pdf_url":"https://jmg.bmj.com/content/jmedgenet/45/4/193.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:18156438","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18156438","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 medical genetics","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.568.8929","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.568.8929","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://jmg.bmj.com/content/45/4/193.full.pdf","raw_type":"text"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:177284","doi":null,"is_oa":false,"landing_page_url":"http://discovery.ucl.ac.uk/177284/","pdf_url":null,"source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"J MED GENET , 45 (4) 193 - 199. (2008)","raw_type":"Article"}],"best_oa_location":{"id":"doi:10.1136/jmg.2007.053017","doi":"https://doi.org/10.1136/jmg.2007.053017","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.2007.053017","pdf_url":"https://jmg.bmj.com/content/jmedgenet/45/4/193.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8371999859809875}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320306182","display_name":"March of Dimes Foundation","ror":"https://ror.org/04bd5p711"},{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320320034","display_name":"Wellbeing of Women","ror":"https://ror.org/01etdvs72"},{"id":"https://openalex.org/F4320334626","display_name":"Medical Research Council","ror":"https://ror.org/03x94j517"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2117988032.pdf","grobid_xml":"https://content.openalex.org/works/W2117988032.grobid-xml"},"referenced_works_count":105,"referenced_works":["https://openalex.org/W155481001","https://openalex.org/W1502331465","https://openalex.org/W1515636671","https://openalex.org/W1544874769","https://openalex.org/W1552460297","https://openalex.org/W1570377571","https://openalex.org/W1579010557","https://openalex.org/W1588409425","https://openalex.org/W1590914074","https://openalex.org/W1643500256","https://openalex.org/W1669374546","https://openalex.org/W1772199497","https://openalex.org/W1812913066","https://openalex.org/W1963824280","https://openalex.org/W1967983465","https://openalex.org/W1971536798","https://openalex.org/W1972338283","https://openalex.org/W1972578082","https://openalex.org/W1976467024","https://openalex.org/W1978386737","https://openalex.org/W1981857936","https://openalex.org/W1985848183","https://openalex.org/W1986274262","https://openalex.org/W1991316406","https://openalex.org/W1995326267","https://openalex.org/W1995496415","https://openalex.org/W1995819143","https://openalex.org/W1997444325","https://openalex.org/W1997536319","https://openalex.org/W2000819178","https://openalex.org/W2002467316","https://openalex.org/W2005942028","https://openalex.org/W2007894922","https://openalex.org/W2007925241","https://openalex.org/W2009533183","https://openalex.org/W2011014712","https://openalex.org/W2011313235","https://openalex.org/W2015180872","https://openalex.org/W2017700869","https://openalex.org/W2020998510","https://openalex.org/W2021027670","https://openalex.org/W2022414754","https://openalex.org/W2027315046","https://openalex.org/W2029173029","https://openalex.org/W2031916878","https://openalex.org/W2032484927","https://openalex.org/W2035168281","https://openalex.org/W2040318547","https://openalex.org/W2045304058","https://openalex.org/W2047267789","https://openalex.org/W2047968222","https://openalex.org/W2049682941","https://openalex.org/W2055263541","https://openalex.org/W2057078582","https://openalex.org/W2058028299","https://openalex.org/W2061276185","https://openalex.org/W2063091345","https://openalex.org/W2064016057","https://openalex.org/W2071121505","https://openalex.org/W2072856126","https://openalex.org/W2073060266","https://openalex.org/W2077388231","https://openalex.org/W2081064915","https://openalex.org/W2082608721","https://openalex.org/W2084516236","https://openalex.org/W2084601112","https://openalex.org/W2088435866","https://openalex.org/W2092267440","https://openalex.org/W2096226139","https://openalex.org/W2102749853","https://openalex.org/W2103169426","https://openalex.org/W2103368550","https://openalex.org/W2105498592","https://openalex.org/W2106198036","https://openalex.org/W2106622649","https://openalex.org/W2110371386","https://openalex.org/W2112580847","https://openalex.org/W2117121254","https://openalex.org/W2130225900","https://openalex.org/W2130235900","https://openalex.org/W2131420481","https://openalex.org/W2134465155","https://openalex.org/W2134555277","https://openalex.org/W2134726260","https://openalex.org/W2135311721","https://openalex.org/W2140018835","https://openalex.org/W2140492946","https://openalex.org/W2141791342","https://openalex.org/W2142787855","https://openalex.org/W2147536097","https://openalex.org/W2148513918","https://openalex.org/W2151099844","https://openalex.org/W2151613979","https://openalex.org/W2157114674","https://openalex.org/W2162941660","https://openalex.org/W2168191994","https://openalex.org/W2175519377","https://openalex.org/W2262741710","https://openalex.org/W2324179034","https://openalex.org/W2471416191","https://openalex.org/W2495358485","https://openalex.org/W2615240200","https://openalex.org/W4239015385","https://openalex.org/W4285719527","https://openalex.org/W6649240484"],"related_works":["https://openalex.org/W7098743475","https://openalex.org/W2461297535","https://openalex.org/W181275799","https://openalex.org/W2091295732","https://openalex.org/W2045304058","https://openalex.org/W2525488939","https://openalex.org/W2070257539","https://openalex.org/W1986880665","https://openalex.org/W2115371468","https://openalex.org/W2064988313"],"abstract_inverted_index":{"Silver-Russell":[0],"syndrome":[1],"(SRS":[2],"MIM180860)":[3],"is":[4,21,38],"a":[5,30,108],"disorder":[6],"characterised":[7],"by":[8],"intrauterine":[9],"and/or":[10],"postnatal":[11],"growth":[12,113],"restriction":[13],"and":[14,59],"typical":[15],"facies.":[16],"However,":[17],"the":[18,74,77,81,89,95,129],"clinical":[19],"picture":[20],"extremely":[22],"diverse":[23],"due":[24],"to":[25,73],"numerous":[26],"diagnostic":[27],"features":[28],"reflecting":[29],"heterogeneous":[31],"genetic":[32],"disorder.":[33],"The":[34],"mode":[35],"of":[36,50,56,85,99,110],"inheritance":[37],"variable":[39],"with":[40,83,94],"sporadic":[41],"cases":[42,58],"also":[43],"being":[44],"described.":[45],"Maternal":[46],"uniparental":[47],"disomy":[48],"(mUPD)":[49],"chromosome":[51,79,133],"7":[52,65],"accounts":[53],"for":[54],"10%":[55],"SRS":[57,100],"many":[60],"candidate":[61,136],"imprinted":[62,91,112],"genes":[63],"on":[64,132],"have":[66,104],"been":[67,105],"investigated.":[68],"Chromosome":[69],"11":[70],"has":[71],"moved":[72],"forefront":[75],"as":[76,117,126,128],"key":[78],"in":[80,88,97,107],"aetiology,":[82],"reports":[84],"methylation":[86],"defects":[87],"H19":[90],"domain":[92],"associated":[93],"phenotype":[96],"35-65%":[98],"patients.":[101],"Methylation":[102],"aberrations":[103],"described":[106],"number":[109],"other":[111],"related":[114],"disorders":[115],"such":[116],"Beckwith-Wiedmann":[118],"syndrome.":[119],"This":[120],"review":[121],"discusses":[122],"these":[123],"recent":[124],"developments":[125],"well":[127],"previous":[130],"work":[131],"7.":[134],"Other":[135],"genes/chromosomal":[137],"regions":[138],"previously":[139],"investigated":[140],"are":[141],"tabled.":[142]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":10},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":7},{"year":2017,"cited_by_count":6},{"year":2016,"cited_by_count":8},{"year":2015,"cited_by_count":10},{"year":2014,"cited_by_count":12},{"year":2013,"cited_by_count":15},{"year":2012,"cited_by_count":20}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}