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Comprehensive analysis of syndromic hearing loss patients in Japan \uff08\u65e5\u672c\u4eba\u75c7\u5019\u7fa4\u6027\u96e3\u8074\u60a3\u8005\u306e\u7db2\u7f85\u7684\u89e3\u6790\uff09. \u4fe1\u5dde\u5927\u5b66, 2020, \u535a\u58eb\u8ad6\u6587.", "subitem_description_type": "Other"}]}, "item_14_dissertation_number_7": {"attribute_name": "\u5b66\u4f4d\u6388\u4e0e\u756a\u53f7", "attribute_value_mlt": [{"subitem_dissertationnumber": "13601\u4e59\u7b2c1236\u53f7"}]}, "item_14_link_74": {"attribute_name": "WoS", "attribute_value_mlt": [{"subitem_link_text": "Web of Science", "subitem_link_url": "http://gateway.isiknowledge.com/gateway/Gateway.cgi?\u0026GWVersion=2\u0026SrcAuth=ShinshuUniv\u0026SrcApp=ShinshuUniv\u0026DestLinkType=FullRecord\u0026DestApp=WOS\u0026KeyUT=000481590200017"}]}, "item_14_publisher_4": {"attribute_name": "\u51fa\u7248\u8005", "attribute_value_mlt": [{"subitem_publisher": "\u4fe1\u5dde\u5927\u5b66"}]}, "item_14_relation_54": {"attribute_name": "PubMed", "attribute_value_mlt": [{"subitem_relation_name": [{"subitem_relation_name_text": "31427586"}], "subitem_relation_type_id": {"subitem_relation_type_id_text": "http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search\u0026DB=pubmed\u0026term=31427586", "subitem_relation_type_select": "PMID"}}]}, "item_14_relation_55": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_name": [{"subitem_relation_name_text": "10.1038/s41598-019-47141-4"}], "subitem_relation_type_id": {"subitem_relation_type_id_text": "https://doi.org/10.1038/s41598-019-47141-4", "subitem_relation_type_select": "DOI"}}]}, "item_14_rights_69": {"attribute_name": "\u6a29\u5229", "attribute_value_mlt": [{"subitem_rights": "\u00a9 The Author(s) 2019 / This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article\u2019s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article\u2019s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/."}]}, "item_14_select_71": {"attribute_name": "\u8457\u8005\u7248\u30d5\u30e9\u30b0", "attribute_value_mlt": [{"subitem_select_item": "ETD"}]}, "item_14_text_11": {"attribute_name": "\u5b66\u4f4d\u306e\u533a\u5206", "attribute_value_mlt": [{"subitem_text_value": "Doctoral"}]}, "item_14_text_12": {"attribute_name": "\u5b66\u4f4d\u306e\u5206\u91ce", "attribute_value_mlt": [{"subitem_text_value": "\u533b\u5b66"}]}, "item_14_text_13": {"attribute_name": "\u5b66\u4f4d\u306e\u5831\u544a\u756a\u53f7", "attribute_value_mlt": [{"subitem_text_value": "\u4e59\u7b2c1236\u53f7"}]}, "item_14_text_77": {"attribute_name": "wosonly keywords", "attribute_value_mlt": [{"subitem_text_value": "BRANCHIOOTORENAL BOR SYNDROME; SOX10 GENE LOCUS; AUTOSOMAL-DOMINANT; STICKLER-SYNDROME; HETEROZYGOUS DELETION; CLINICAL-EVALUATION; CHOANAL ATRESIA; MUTATIONS; FAMILY; AMBLYOPIA"}]}, "item_14_textarea_75": {"attribute_name": "wosonly abstract", "attribute_value_mlt": [{"subitem_textarea_value": "More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide variants, small insertions, deletions and copy number variations in the target genes. We enrolled 140 patients with any of 14 syndromes (BOR syndrome, Waardenburg syndrome, osteogenesis imperfecta, spondyloepiphyseal dysplasia congenita, Stickler syndrome, CHARGE syndrome, Jervell and Lange-Nielsen syndrome, Pendred syndrome, Klippel-Feil syndrome, Alport syndrome, Norrie disease, Treacher-Collins syndrome, Perrault syndrome and auditory neuropathy with optic atrophy) and identified the causative variants in 56% of the patients. This analysis could identify the causative variants in syndromic hearing loss patients in a short time with a high diagnostic rate. In addition, it was useful for the analysis of the cases who only partially fulfilled the diagnostic criteria."}]}, "item_creator": {"attribute_name": "\u8457\u8005", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "\u51fa\u6d66, \u7f8e\u667a\u6075"}], "nameIdentifiers": [{"nameIdentifier": "109556", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "\u30d5\u30a1\u30a4\u30eb\u60c5\u5831", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2020-06-12"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "19MR0003_yoshi.pdf", "filesize": [{"value": "147.2 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 147200.0, "url": {"label": "\u5185\u5bb9\u306e\u8981\u65e8", "url": "https://soar-ir.repo.nii.ac.jp/record/21429/files/19MR0003_yoshi.pdf"}, "version_id": "dc417e47-c385-4c5b-a81c-93eb7163fafb"}, {"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2020-06-12"}], "displaytype": "detail", "download_preview_message": "", "file_order": 1, "filename": "19MR0003_shinsa.pdf", "filesize": [{"value": "145.5 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 145500.0, "url": {"label": "\u5be9\u67fb\u7d50\u679c\u306e\u8981\u65e8", "url": "https://soar-ir.repo.nii.ac.jp/record/21429/files/19MR0003_shinsa.pdf"}, "version_id": "eba2222c-869a-4c6a-9077-cfb13b809ef3"}, {"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2020-06-12"}], "displaytype": "detail", "download_preview_message": "", "file_order": 2, "filename": "19MR0003_ronbun.pdf", "filesize": [{"value": "275.6 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensefree": "\u00a9 The Author(s) 2019 / This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. 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