{"id":"https://openalex.org/W2048701692","doi":"https://doi.org/10.4321/s0365-66912008001200003","title":"El asesoramiento gen\u00e9tico en los d\u00e9ficits visuales y auditivos","display_name":"El asesoramiento gen\u00e9tico en los d\u00e9ficits visuales y auditivos","publication_year":2008,"publication_date":"2008-12-01","ids":{"openalex":"https://openalex.org/W2048701692","doi":"https://doi.org/10.4321/s0365-66912008001200003","mag":"2048701692","pmid":"https://pubmed.ncbi.nlm.nih.gov/19085640"},"language":"es","primary_location":{"id":"doi:10.4321/s0365-66912008001200003","doi":"https://doi.org/10.4321/s0365-66912008001200003","is_oa":true,"landing_page_url":"https://doi.org/10.4321/s0365-66912008001200003","pdf_url":"https://scielo.isciii.es/pdf/aseo/v83n12/revision.pdf","source":{"id":"https://openalex.org/S2755649941","display_name":"Archivos de la Sociedad Espa\u00f1ola de Oftalmolog\u00eda","issn_l":"0365-6691","issn":["0365-6691","1989-7286"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archivos de la Sociedad Espa\u00f1ola de Oftalmolog\u00eda","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://scielo.isciii.es/pdf/aseo/v83n12/revision.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"J.M. Mill\u00e1n","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16097986","display_name":"Universitat de Val\u00e8ncia","ror":"https://ror.org/043nxc105","country_code":"ES","type":"education","lineage":["https://openalex.org/I16097986"]},{"id":"https://openalex.org/I3019010403","display_name":"Hospital Universitari i Polit\u00e8cnic La Fe","ror":"https://ror.org/01ar2v535","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I3019010403","https://openalex.org/I4210166036"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"J.M. Mill\u00e1n","raw_affiliation_strings":["Unidad de Gen\u00e9tica, Hospital Universitario La Fe y Departamento de Gen\u00e9tica, Universidad de Valencia y Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Valencia, Spain. millan_jos@gva.es","Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Valencia, Espa\u00f1a","Hospital Universitario La Fe","Universidad de Valencia, Valencia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unidad de Gen\u00e9tica, Hospital Universitario La Fe y Departamento de Gen\u00e9tica, Universidad de Valencia y Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Valencia, Spain. millan_jos@gva.es","institution_ids":["https://openalex.org/I16097986","https://openalex.org/I3019010403","https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Valencia, Espa\u00f1a","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Hospital Universitario La Fe","institution_ids":["https://openalex.org/I3019010403"]},{"raw_affiliation_string":"Universidad de Valencia, Valencia","institution_ids":["https://openalex.org/I16097986"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065240021","display_name":"Elena Aller","orcid":"https://orcid.org/0000-0001-7973-5250","observed_orcids":["https://orcid.org/0000-0001-7973-5250"]},"institutions":[{"id":"https://openalex.org/I16097986","display_name":"Universitat de Val\u00e8ncia","ror":"https://ror.org/043nxc105","country_code":"ES","type":"education","lineage":["https://openalex.org/I16097986"]},{"id":"https://openalex.org/I3019010403","display_name":"Hospital Universitari i Polit\u00e8cnic La Fe","ror":"https://ror.org/01ar2v535","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I3019010403","https://openalex.org/I4210166036"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"E. Aller","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Valencia, Espa\u00f1a","Hospital Universitario La Fe","Universidad de Valencia, Valencia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Valencia, Espa\u00f1a","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Hospital Universitario La Fe","institution_ids":["https://openalex.org/I3019010403"]},{"raw_affiliation_string":"Universidad de Valencia, Valencia","institution_ids":["https://openalex.org/I16097986"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010704447","display_name":"Teresa Jaijo","orcid":"https://orcid.org/0000-0003-0973-9146","observed_orcids":["https://orcid.org/0000-0003-0973-9146"]},"institutions":[{"id":"https://openalex.org/I16097986","display_name":"Universitat de Val\u00e8ncia","ror":"https://ror.org/043nxc105","country_code":"ES","type":"education","lineage":["https://openalex.org/I16097986"]},{"id":"https://openalex.org/I3019010403","display_name":"Hospital Universitari i Polit\u00e8cnic La Fe","ror":"https://ror.org/01ar2v535","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I3019010403","https://openalex.org/I4210166036"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"T. Jaijo","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Valencia, Espa\u00f1a","Hospital Universitario La Fe","Universidad de Valencia, Valencia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Valencia, Espa\u00f1a","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Hospital Universitario La Fe","institution_ids":["https://openalex.org/I3019010403"]},{"raw_affiliation_string":"Universidad de Valencia, Valencia","institution_ids":["https://openalex.org/I16097986"]}]},{"author_position":"middle","author":{"id":null,"display_name":"E. Grau","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16097986","display_name":"Universitat de Val\u00e8ncia","ror":"https://ror.org/043nxc105","country_code":"ES","type":"education","lineage":["https://openalex.org/I16097986"]},{"id":"https://openalex.org/I3019010403","display_name":"Hospital Universitari i Polit\u00e8cnic La Fe","ror":"https://ror.org/01ar2v535","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I3019010403","https://openalex.org/I4210166036"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"E. Grau","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Valencia, Espa\u00f1a","Hospital Universitario La Fe","Universidad de Valencia, Valencia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Valencia, Espa\u00f1a","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Hospital Universitario La Fe","institution_ids":["https://openalex.org/I3019010403"]},{"raw_affiliation_string":"Universidad de Valencia, Valencia","institution_ids":["https://openalex.org/I16097986"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111871369","display_name":"Magdalena Beneyto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I16097986","display_name":"Universitat de Val\u00e8ncia","ror":"https://ror.org/043nxc105","country_code":"ES","type":"education","lineage":["https://openalex.org/I16097986"]},{"id":"https://openalex.org/I3019010403","display_name":"Hospital Universitari i Polit\u00e8cnic La Fe","ror":"https://ror.org/01ar2v535","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I3019010403","https://openalex.org/I4210166036"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"M. Beneyto","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Valencia, Espa\u00f1a","Hospital Universitario La Fe","Universidad de Valencia, Valencia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Valencia, Espa\u00f1a","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Hospital Universitario La Fe","institution_ids":["https://openalex.org/I3019010403"]},{"raw_affiliation_string":"Universidad de Valencia, Valencia","institution_ids":["https://openalex.org/I16097986"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5015456687","display_name":"Carm\u00e9n N\u00e1jera","orcid":"https://orcid.org/0000-0003-0063-5527","observed_orcids":["https://orcid.org/0000-0003-0063-5527"]},"institutions":[{"id":"https://openalex.org/I16097986","display_name":"Universitat de Val\u00e8ncia","ror":"https://ror.org/043nxc105","country_code":"ES","type":"education","lineage":["https://openalex.org/I16097986"]},{"id":"https://openalex.org/I3019010403","display_name":"Hospital Universitari i Polit\u00e8cnic La Fe","ror":"https://ror.org/01ar2v535","country_code":"ES","type":"healthcare","lineage":["https://openalex.org/I3019010403","https://openalex.org/I4210166036"]},{"id":"https://openalex.org/I4210111366","display_name":"Centre for Biomedical Network Research on Rare Diseases","ror":"https://ror.org/01ygm5w19","country_code":"ES","type":"facility","lineage":["https://openalex.org/I4210111366"]}],"countries":["ES"],"is_corresponding":false,"raw_author_name":"C. N\u00e1jera","raw_affiliation_strings":["Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Valencia, Espa\u00f1a","Hospital Universitario La Fe","Universidad de Valencia, Valencia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER), Valencia, Espa\u00f1a","institution_ids":["https://openalex.org/I4210111366"]},{"raw_affiliation_string":"Hospital Universitario La Fe","institution_ids":["https://openalex.org/I3019010403"]},{"raw_affiliation_string":"Universidad de Valencia, Valencia","institution_ids":["https://openalex.org/I16097986"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":2590,"currency":"USD","value_usd":2590},"apc_paid":{"value":2590,"currency":"USD","value_usd":2590},"fwci":0.0,"has_fulltext":true,"cited_by_count":4,"citation_normalized_percentile":{"value":0.02616822,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":95},"biblio":{"volume":"83","issue":"12","first_page":"689","last_page":"702"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10691","display_name":"Retinal Development and Disorders","score":0.9965999722480774,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T10691","display_name":"Retinal Development and Disorders","score":0.9965999722480774,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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":0.0010000000474974513,"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/T10170","display_name":"Retinal Diseases and Treatments","score":0.00019999999494757503,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/genetic-counseling","display_name":"genetic counseling","score":0.7200000286102295},{"id":"https://openalex.org/keywords/inherited-retinal-disease","display_name":"inherited retinal disease","score":0.9829999804496765},{"id":"https://openalex.org/keywords/hearing-loss","display_name":"hearing loss","score":0.847000002861023},{"id":"https://openalex.org/keywords/genetic-heterogeneity","display_name":"genetic heterogeneity","score":0.9300000071525574},{"id":"https://openalex.org/keywords/gene-discovery","display_name":"gene discovery","score":0.6990000009536743},{"id":"https://openalex.org/keywords/genetic-testing","display_name":"genetic testing","score":0.6710000038146973},{"id":"https://openalex.org/keywords/dna-microarrays","display_name":"DNA microarrays","score":0.5419999957084656},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.6299999952316284},{"id":"https://openalex.org/keywords/reproductive-counseling","display_name":"reproductive counseling","score":0.5849999785423279},{"id":"https://openalex.org/keywords/retinal-gene-therapy","display_name":"retinal gene therapy","score":0.5329999923706055}],"concepts":[{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.6485402584075928},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.6071860790252686},{"id":"https://openalex.org/C179786068","wikidata":"https://www.wikidata.org/wiki/Q16257937","display_name":"Molecular diagnostics","level":2,"score":0.47855526208877563},{"id":"https://openalex.org/C204315192","wikidata":"https://www.wikidata.org/wiki/Q210506","display_name":"Molecular genetics","level":3,"score":0.46914783120155334},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4540087878704071},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.43162328004837036},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.4298182427883148},{"id":"https://openalex.org/C74092355","wikidata":"https://www.wikidata.org/wiki/Q1056943","display_name":"Molecular pathology","level":3,"score":0.4271089732646942},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.41990208625793457},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.37225067615509033},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.346419095993042},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3443172574043274},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.10651111602783203}],"mesh":[{"descriptor_ui":"D005307","descriptor_name":"Fertilization in Vitro","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005544","descriptor_name":"Forecasting","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005796","descriptor_name":"Genes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005817","descriptor_name":"Genetic Counseling","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006311","descriptor_name":"Hearing Disorders","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D006311","descriptor_name":"Hearing Disorders","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006311","descriptor_name":"Hearing Disorders","qualifier_ui":"Q000517","qualifier_name":"prevention & control","is_major_topic":false},{"descriptor_ui":"D006311","descriptor_name":"Hearing Disorders","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D006319","descriptor_name":"Hearing Loss, Sensorineural","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D006319","descriptor_name":"Hearing Loss, Sensorineural","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006319","descriptor_name":"Hearing Loss, Sensorineural","qualifier_ui":"Q000517","qualifier_name":"prevention & control","is_major_topic":false},{"descriptor_ui":"D006319","descriptor_name":"Hearing Loss, Sensorineural","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012164","descriptor_name":"Retinal Diseases","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D012164","descriptor_name":"Retinal Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012164","descriptor_name":"Retinal Diseases","qualifier_ui":"Q000517","qualifier_name":"prevention & control","is_major_topic":false},{"descriptor_ui":"D012164","descriptor_name":"Retinal Diseases","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015792","descriptor_name":"Retinal Dysplasia","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D015792","descriptor_name":"Retinal Dysplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D015792","descriptor_name":"Retinal Dysplasia","qualifier_ui":"Q000517","qualifier_name":"prevention & control","is_major_topic":false},{"descriptor_ui":"D015792","descriptor_name":"Retinal Dysplasia","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false},{"descriptor_ui":"D018570","descriptor_name":"Risk Assessment","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018740","descriptor_name":"Genetic Heterogeneity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019836","descriptor_name":"Preimplantation Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020411","descriptor_name":"Oligonucleotide Array Sequence Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D025202","descriptor_name":"Molecular Diagnostic Techniques","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.4321/s0365-66912008001200003","doi":"https://doi.org/10.4321/s0365-66912008001200003","is_oa":true,"landing_page_url":"https://doi.org/10.4321/s0365-66912008001200003","pdf_url":"https://scielo.isciii.es/pdf/aseo/v83n12/revision.pdf","source":{"id":"https://openalex.org/S2755649941","display_name":"Archivos de la Sociedad Espa\u00f1ola de Oftalmolog\u00eda","issn_l":"0365-6691","issn":["0365-6691","1989-7286"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archivos de la Sociedad Espa\u00f1ola de Oftalmolog\u00eda","raw_type":"journal-article"},{"id":"pmid:19085640","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/19085640","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":"Archivos de la Sociedad Espanola de Oftalmologia","raw_type":"English Abstract"},{"id":"pmh:oai:hispana.mcu.es:6002937","doi":null,"is_oa":true,"landing_page_url":"http://scielo.isciii.es/scielo.php?script=sci_arttext&pid=S0365-66912008001200003","pdf_url":null,"source":{"id":"https://openalex.org/S4377196108","display_name":"Hispana","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-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"journal article"},{"id":"pmh:oai:scielo:S0365-66912008001200003","doi":null,"is_oa":false,"landing_page_url":"http://scielo.isciii.es/scielo.php?script=sci_arttext&amp;pid=S0365-66912008001200003","pdf_url":null,"source":{"id":"https://openalex.org/S4306402135","display_name":"Scientific Electronic library online (Sciences Carlos III Health Institute)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2801357902","host_organization_name":"Instituto de Salud Carlos III","host_organization_lineage":["https://openalex.org/I2801357902"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Archivos de la Sociedad Espa\u00c3\u00b1ola de Oftalmolog\u00c3\u00ada v.83 n.12 2008","raw_type":"journal article"},{"id":"mag:2344603832","doi":null,"is_oa":false,"landing_page_url":"http://www.oftalmo.com/seo/archivos/maquetas/A/3D02668D-4271-0469-1B1D-00007AFDEBCA/articulo.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"doi:10.4321/s0365-66912008001200003","doi":"https://doi.org/10.4321/s0365-66912008001200003","is_oa":true,"landing_page_url":"https://doi.org/10.4321/s0365-66912008001200003","pdf_url":"https://scielo.isciii.es/pdf/aseo/v83n12/revision.pdf","source":{"id":"https://openalex.org/S2755649941","display_name":"Archivos de la Sociedad Espa\u00f1ola de Oftalmolog\u00eda","issn_l":"0365-6691","issn":["0365-6691","1989-7286"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","norway-1","poland-20","russia-white-list-3"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archivos de la Sociedad Espa\u00f1ola de Oftalmolog\u00eda","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2048701692.pdf","grobid_xml":"https://content.openalex.org/works/W2048701692.grobid-xml"},"referenced_works_count":115,"referenced_works":["https://openalex.org/W36152174","https://openalex.org/W122408950","https://openalex.org/W135930319","https://openalex.org/W257202846","https://openalex.org/W1156060001","https://openalex.org/W1256453218","https://openalex.org/W1485407919","https://openalex.org/W1498154027","https://openalex.org/W1498955896","https://openalex.org/W1507327514","https://openalex.org/W1512314517","https://openalex.org/W1519484322","https://openalex.org/W1521604279","https://openalex.org/W1529010561","https://openalex.org/W1530829742","https://openalex.org/W1532324275","https://openalex.org/W1547636063","https://openalex.org/W1572893611","https://openalex.org/W1600860952","https://openalex.org/W1607116816","https://openalex.org/W1809106246","https://openalex.org/W1967527003","https://openalex.org/W1969832343","https://openalex.org/W1971252547","https://openalex.org/W1972631980","https://openalex.org/W1976489799","https://openalex.org/W1980228755","https://openalex.org/W1984535376","https://openalex.org/W1984764475","https://openalex.org/W1986126870","https://openalex.org/W1988961748","https://openalex.org/W1989189540","https://openalex.org/W1991259792","https://openalex.org/W1993084414","https://openalex.org/W1994750562","https://openalex.org/W2004375241","https://openalex.org/W2011634069","https://openalex.org/W2017614800","https://openalex.org/W2017908804","https://openalex.org/W2018490222","https://openalex.org/W2018626472","https://openalex.org/W2018875515","https://openalex.org/W2018949803","https://openalex.org/W2021674095","https://openalex.org/W2023471002","https://openalex.org/W2025299744","https://openalex.org/W2033528471","https://openalex.org/W2033766346","https://openalex.org/W2035318710","https://openalex.org/W2036996443","https://openalex.org/W2038502254","https://openalex.org/W2041384212","https://openalex.org/W2042841173","https://openalex.org/W2048811478","https://openalex.org/W2049011837","https://openalex.org/W2052585139","https://openalex.org/W2053038148","https://openalex.org/W2054390956","https://openalex.org/W2058245537","https://openalex.org/W2059519132","https://openalex.org/W2061427888","https://openalex.org/W2063990910","https://openalex.org/W2065640029","https://openalex.org/W2068897365","https://openalex.org/W2070644160","https://openalex.org/W2078495124","https://openalex.org/W2079195506","https://openalex.org/W2082242442","https://openalex.org/W2083725317","https://openalex.org/W2085815839","https://openalex.org/W2086884188","https://openalex.org/W2088056125","https://openalex.org/W2089710019","https://openalex.org/W2090618178","https://openalex.org/W2091415724","https://openalex.org/W2092007765","https://openalex.org/W2092426118","https://openalex.org/W2092670526","https://openalex.org/W2094098712","https://openalex.org/W2100738249","https://openalex.org/W2105220668","https://openalex.org/W2107205833","https://openalex.org/W2107658807","https://openalex.org/W2108173334","https://openalex.org/W2110777328","https://openalex.org/W2114268866","https://openalex.org/W2119744081","https://openalex.org/W2120587914","https://openalex.org/W2126930913","https://openalex.org/W2140114390","https://openalex.org/W2141036744","https://openalex.org/W2141094627","https://openalex.org/W2144015228","https://openalex.org/W2148362725","https://openalex.org/W2149981823","https://openalex.org/W2150683921","https://openalex.org/W2151828629","https://openalex.org/W2154826595","https://openalex.org/W2155658738","https://openalex.org/W2156190275","https://openalex.org/W2159187058","https://openalex.org/W2159423768","https://openalex.org/W2159510829","https://openalex.org/W2162413201","https://openalex.org/W2163451904","https://openalex.org/W2176142144","https://openalex.org/W2267368291","https://openalex.org/W2409850838","https://openalex.org/W2413168202","https://openalex.org/W2432787123","https://openalex.org/W4229986456","https://openalex.org/W4240588598","https://openalex.org/W6631653853","https://openalex.org/W6666621287","https://openalex.org/W7073574218"],"related_works":["https://openalex.org/W2344603832","https://openalex.org/W65242229","https://openalex.org/W2089487106","https://openalex.org/W117555224","https://openalex.org/W2150467649","https://openalex.org/W1980686880","https://openalex.org/W2038013795","https://openalex.org/W2528178831","https://openalex.org/W2082445645","https://openalex.org/W2403399578"],"abstract_inverted_index":{"PURPOSE:":[0],"Inherited":[1],"retinal":[2,46,161],"dystrophies":[3,162],"and":[4,12,38,48,91,94,128,131,163,181,183],"hearing":[5,55],"loss":[6],"disorders":[7,118],"have":[8,20,143],"a":[9,67,73],"broad":[10],"clinical":[11,83,107],"genetic":[13,90,158],"heterogeneity.":[14],"Over":[15],"the":[16,28,64,81,96,156,170],"last":[17],"decade":[18],"there":[19],"been":[21],"major":[22],"advances":[23,166],"in":[24,45,123,167],"our":[25],"understanding":[26],"of":[27,31,80,98,103,113,125,136,160],"molecular":[29,68,120,177],"pathology":[30],"these":[32,117],"diseases;":[33],"currently":[34],"over":[35,49],"200":[36],"genes":[37,114],"loci":[39],"are":[40,52],"known":[41,138],"to":[42,77,146],"be":[43,78],"involved":[44],"disorders,":[47],"60":[50],"genes/loci":[51],"causative":[53],"for":[54,62,105,116,176],"impairment.":[56],"METHODS:":[57],"Genetic":[58],"testing":[59,121,135],"is":[60],"crucial":[61],"confirming":[63],"diagnosis":[65],"at":[66],"level.":[69],"It":[70],"also":[71],"allows":[72],"more":[74],"precise":[75],"prognosis":[76],"made":[79],"future":[82,106],"evolution,":[84],"as":[85,87],"well":[86],"an":[88],"accurate":[89],"reproductive":[92],"counselling,":[93],"raises":[95],"possibility":[97],"creating":[99],"genetically":[100],"homogeneous":[101],"groups":[102],"patients":[104],"trials.":[108],"RESULTS:":[109],"The":[110],"high":[111],"number":[112],"responsible":[115],"makes":[119],"overwhelming":[122],"terms":[124],"cost,":[126],"time":[127],"technical":[129],"effectiveness,":[130],"no":[132],"centre":[133],"offers":[134],"all":[137],"genes.":[139],"Several":[140],"diagnostic":[141],"tools":[142],"emerged":[144],"recently":[145],"circumvent":[147],"this":[148,152],"problem.":[149],"CONCLUSIONS:":[150],"In":[151],"report,":[153],"we":[154],"review":[155],"vast":[157],"heterogeneity":[159],"hypoacusis,":[164],"recent":[165],"gene":[168],"discovery,":[169],"different":[171],"DNA-based":[172],"microarray":[173],"technologies":[174],"available":[175],"testing,":[178],"their":[179],"benefits":[180],"limitations,":[182],"novel":[184],"therapeutic":[185],"approaches.":[186]},"counts_by_year":[{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
