{"id":"https://openalex.org/W2128298945","doi":null,"title":"Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes.","display_name":"Fluorescence in situ hybridization (FISH) using non-commercial probes in the diagnosis of clinically suspected microdeletion syndromes.","publication_year":2013,"publication_date":"2013-01-01","ids":{"openalex":"https://openalex.org/W2128298945","mag":"2128298945","pmid":"https://pubmed.ncbi.nlm.nih.gov/24056568","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3767260"},"language":"en","primary_location":{"id":"pmh:oai:europepmc.org:2767557","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3767260","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3767260","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5017272310","display_name":"Ashutosh Halder","orcid":"https://orcid.org/0000-0002-3116-3502","observed_orcids":["https://orcid.org/0000-0002-3116-3502"]},"institutions":[{"id":"https://openalex.org/I63739035","display_name":"All India Institute of Medical Sciences","ror":"https://ror.org/02dwcqs71","country_code":"IN","type":"education","lineage":["https://openalex.org/I2799351866","https://openalex.org/I4210148677","https://openalex.org/I63739035"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Ashutosh Halder","raw_affiliation_strings":["Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India","institution_ids":["https://openalex.org/I63739035"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073707315","display_name":"Manish Jain","orcid":"https://orcid.org/0000-0002-0425-6033","observed_orcids":["https://orcid.org/0000-0002-0425-6033"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Manish Jain","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027890596","display_name":"Isha Chaudhary","orcid":"https://orcid.org/0009-0008-3207-1459","observed_orcids":["https://orcid.org/0009-0008-3207-1459"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Isha Chaudhary","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028018655","display_name":"Neerja Gupta","orcid":"https://orcid.org/0000-0002-7108-1974","observed_orcids":["https://orcid.org/0000-0002-7108-1974"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Neerja Gupta","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5014772258","display_name":"Madhulika Kabra","orcid":"https://orcid.org/0000-0003-3315-9782","observed_orcids":["https://orcid.org/0000-0003-3315-9782"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Madhulika Kabra","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.329,"has_fulltext":false,"cited_by_count":16,"citation_normalized_percentile":{"value":0.60303546,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"138","issue":null,"first_page":"135","last_page":"42"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9984999895095825,"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":0.9984999895095825,"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.0006000000284984708,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0003000000142492354,"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/microdeletion-syndromes","display_name":"microdeletion syndromes","score":0.9829999804496765},{"id":"https://openalex.org/keywords/fluorescence-in-situ-hybridization","display_name":"fluorescence in situ hybridization","score":0.9810000061988831},{"id":"https://openalex.org/keywords/22q11-2-microdeletion","display_name":"22q11.2 microdeletion","score":0.9589999914169312},{"id":"https://openalex.org/keywords/williams-syndrome","display_name":"Williams syndrome","score":0.9020000100135803},{"id":"https://openalex.org/keywords/prader-willi-syndrome","display_name":"Prader-Willi syndrome","score":0.9660000205039978},{"id":"https://openalex.org/keywords/angelman-syndrome","display_name":"Angelman syndrome","score":0.9649999737739563},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.8640000224113464},{"id":"https://openalex.org/keywords/congenital-malformations","display_name":"congenital malformations","score":0.671999990940094},{"id":"https://openalex.org/keywords/diagnostic-confirmation","display_name":"diagnostic confirmation","score":0.4180000126361847},{"id":"https://openalex.org/keywords/genotype-first-approach","display_name":"genotype-first approach","score":0.7260000109672546},{"id":"https://openalex.org/keywords/whole-genome-screening","display_name":"whole-genome screening","score":0.6850000023841858},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.9700000286102295}],"concepts":[{"id":"https://openalex.org/C2776984250","wikidata":"https://www.wikidata.org/wiki/Q10329580","display_name":"Microdeletion syndrome","level":4,"score":0.9358906745910645},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7016793489456177},{"id":"https://openalex.org/C2909208804","wikidata":"https://www.wikidata.org/wiki/Q127282","display_name":"Fish <Actinopterygii>","level":2,"score":0.5737975835800171},{"id":"https://openalex.org/C2777542201","wikidata":"https://www.wikidata.org/wiki/Q1336182","display_name":"Fluorescence in situ hybridization","level":4,"score":0.4967189431190491},{"id":"https://openalex.org/C2983449737","wikidata":"https://www.wikidata.org/wiki/Q177719","display_name":"Clinical diagnosis","level":2,"score":0.4912564158439636},{"id":"https://openalex.org/C2778691456","wikidata":"https://www.wikidata.org/wiki/Q535364","display_name":"Angelman syndrome","level":3,"score":0.4775344133377075},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3960111439228058},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.34382158517837524},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.18774402141571045},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.16616234183311462},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.15386563539505005},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.058534592390060425},{"id":"https://openalex.org/C505870484","wikidata":"https://www.wikidata.org/wiki/Q180538","display_name":"Fishery","level":1,"score":0.056538283824920654}],"mesh":[{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015335","descriptor_name":"Molecular Probes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true}],"locations_count":5,"locations":[{"id":"pmh:oai:europepmc.org:2767557","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3767260","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmh:oai:pubmedcentral.nih.gov:3767260","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3767260","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Indian J Med Res","raw_type":"Text"},{"id":"pmid:24056568","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24056568","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":"The Indian journal of medical research","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:7fe2263ab0e14f568b404b06e164f9f8","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/7fe2263ab0e14f568b404b06e164f9f8","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Indian Journal of Medical Research, Vol 138, Iss 1, Pp 135-142 (2013)","raw_type":"article"},{"id":"mag:2128298945","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24056568","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:europepmc.org:2767557","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3767260","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-sa","license_id":"https://openalex.org/licenses/cc-by-nc-sa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},"sustainable_development_goals":[{"score":0.8999999761581421,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":19,"referenced_works":["https://openalex.org/W1967918663","https://openalex.org/W1986885179","https://openalex.org/W2000883364","https://openalex.org/W2035936667","https://openalex.org/W2045071533","https://openalex.org/W2063739474","https://openalex.org/W2088313201","https://openalex.org/W2098076755","https://openalex.org/W2123985759","https://openalex.org/W2125995536","https://openalex.org/W2126616418","https://openalex.org/W2127029849","https://openalex.org/W2131344728","https://openalex.org/W2131384225","https://openalex.org/W2131587128","https://openalex.org/W2141484917","https://openalex.org/W2394981571","https://openalex.org/W2415300332","https://openalex.org/W2417147112"],"related_works":["https://openalex.org/W2123108524","https://openalex.org/W1973664532","https://openalex.org/W2188652013","https://openalex.org/W2255952934","https://openalex.org/W185864527","https://openalex.org/W2157828652","https://openalex.org/W1506268364","https://openalex.org/W2739680928","https://openalex.org/W1969756991","https://openalex.org/W1988593324"],"abstract_inverted_index":{"BACKGROUND":[0],"&":[1,158],"OBJECTIVES:":[2],"Microdeletion":[3],"syndromes":[4],"are":[5,19,22],"characterized":[6],"by":[7],"small":[8],"(<5":[9],"Mb)":[10],"chromosomal":[11],"deletions":[12],"in":[13,38,43,68,133],"which":[14],"one":[15],"or":[16,186],"more":[17],"genes":[18,37],"involved.":[20],"These":[21],"frequently":[23],"associated":[24],"with":[25],"multiple":[26],"congenital":[27],"anomalies.":[28],"The":[29],"phenotype":[30],"is":[31,48],"the":[32,39,64,69,88,167],"result":[33],"of":[34,36,55,66,71,90,142,147,154,169,204,213,217],"haploinsufficiency":[35],"critical":[40],"interval.":[41],"Fluorescence":[42],"situ":[44],"hybridization":[45],"(FISH)":[46],"technique":[47],"commonly":[49],"used":[50,200,210],"for":[51,87,102,109,116,124,171,183,211],"precise":[52],"genetic":[53],"diagnosis":[54,70,92],"microdeletion":[56,73,84,127,174],"syndromes.":[57,128,175],"This":[58],"study":[59],"was":[60,77,131],"conducted":[61],"to":[62,178,188],"assess":[63],"role":[65],"FISH":[67,76,130,163,184,207],"suspected":[72,83,126,173],"syndrome.":[74,156],"METHODS:":[75],"carried":[78],"out":[79],"on":[80],"301":[81],"clinically":[82,172],"syndrome":[85,150],"cases":[86,99,106,113,121,135,141,146,153],"confirmation":[89,212],"clinical":[91,181],"using":[93],"non-commercial":[94],"probes.":[95],"Of":[96],"these,":[97],"177":[98],"were":[100,107,114,122,139],"referred":[101,108,115,123],"22q11.2":[103,143],"microdeletion,":[104,144],"42":[105],"William":[110,155],"syndrome,":[111],"38":[112],"Prader":[117,148],"Willi/Angelman":[118],"and":[119,151,206,220],"44":[120],"other":[125],"RESULTS:":[129],"confirmatory":[132],"23":[134],"only":[136],"(7.6%).":[137],"There":[138],"17":[140],"four":[145],"Willi":[149],"two":[152],"INTERPRETATION":[157],"CONCLUSION:":[159],"We":[160,176],"conclude":[161],"that":[162],"should":[164],"not":[165],"be":[166,199,209],"method":[168],"choice":[170],"propose":[177],"follow":[179,189],"strict":[180],"criteria":[182],"testing":[185],"preferably":[187],"better":[190],"methods":[191],"(genotype":[192],"first":[193,202],"approach).":[194],"Whole":[195],"genome":[196],"screening":[197,214,216],"may":[198,208],"as":[201],"line":[203],"test":[205],"result,":[215],"family":[218],"members":[219],"prenatal":[221],"diagnosis.":[222]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}