WEKO3
アイテム
{"_buckets": {"deposit": "ae26f6bb-ca3d-4852-8fc9-4ebaf4b6bd63"}, "_deposit": {"created_by": 2, "id": "19460", "owners": [2], "pid": {"revision_id": 0, "type": "depid", "value": "19460"}, "status": "published"}, "_oai": {"id": "oai:nagasaki-u.repo.nii.ac.jp:00019460", "sets": ["30"]}, "author_link": ["81214", "81216", "81217", "81213", "81211", "81215", "81212"], "item_2_biblio_info_6": {"attribute_name": "書誌情報", "attribute_value_mlt": [{"bibliographicIssueDates": {"bibliographicIssueDate": "2004-06", "bibliographicIssueDateType": "Issued"}, "bibliographicIssueNumber": "1", "bibliographicPageEnd": "23", "bibliographicPageStart": "17", "bibliographicVolumeNumber": "13", "bibliographic_titles": [{"bibliographic_title": "Clinical pediatric endocrinology"}]}]}, "item_2_description_4": {"attribute_name": "抄録", "attribute_value_mlt": [{"subitem_description": "We report a case of Japanese girl with a rare disorder of Weaver syndrome, which was characterized by overgrowth with advanced and disharmonic bone age, craniofacial abnormalities, developmental delay, metaphyseal flaring of the long bones and camptodactyly. The patient was delivered at 38 weeks of gestation with a length of 54.2 cm (+ 2.6 SD), a weight of 3805 g (+ 2.5 SD) and an occipitofrontal circumference (OFC) of 35.0 cm (+ 1.1 SD). She manifested hypertonia and flexion contractures in the first few years. She also had submucosal soft cleft palate and difficulty in swallowing and breathing in early infancy. When she was 5 years and 7 months old, her height and weight were 133.3 cm (+ 5.5 SD) and 32.0 kg (+ 5.1 SD), respectively. We could not detect any endocrinological abnormalities for the cause of overgrowth. According to clinical features, Weaver syndrome was suspected and genetical analysis was performed. Fluorescence in situ hybridization (FISH) and direct sequencing analysis showed neither deletion nor point mutation of the nuclear receptor SET-domain-containing protein 1 (NSD1) gene on 5q35, which is responsible for Sotos syndrome. Therefore, we made a diagnosis of Weaver syndrome for this patient and discussed the differential diagnosis in terms of overgrowth syndrome.", "subitem_description_type": "Abstract"}]}, "item_2_description_63": {"attribute_name": "引用", "attribute_value_mlt": [{"subitem_description": "Clinical pediatric endocrinology. 2004, 13(1), p.17-23", "subitem_description_type": "Other"}]}, "item_2_publisher_33": {"attribute_name": "出版者", "attribute_value_mlt": [{"subitem_publisher": "日本小児内分泌学会"}]}, "item_2_rights_13": {"attribute_name": "権利", "attribute_value_mlt": [{"subitem_rights": "日本小児内分泌学会"}, {"subitem_rights": "本文データは学協会の許諾に基づきCiNiiから複製したものである"}]}, "item_2_source_id_10": {"attribute_name": "書誌レコードID", "attribute_value_mlt": [{"subitem_source_identifier": "AA11006467", "subitem_source_identifier_type": "NCID"}]}, "item_2_source_id_7": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "09185739", "subitem_source_identifier_type": "ISSN"}]}, "item_2_version_type_16": {"attribute_name": "著者版フラグ", "attribute_value_mlt": [{"subitem_version_resource": "http://purl.org/coar/version/c_970fb48d4fbd8a85", "subitem_version_type": "VoR"}]}, "item_creator": {"attribute_name": "著者", "attribute_type": "creator", "attribute_value_mlt": [{"creatorNames": [{"creatorName": "Miyoshi, Yoko"}], "nameIdentifiers": [{"nameIdentifier": "81211", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Taniike, Masako"}], "nameIdentifiers": [{"nameIdentifier": "81212", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Mohri, Ikuko"}], "nameIdentifiers": [{"nameIdentifier": "81213", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Mushiake, Sotaro"}], "nameIdentifiers": [{"nameIdentifier": "81214", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Nakajima, Shigeo"}], "nameIdentifiers": [{"nameIdentifier": "81215", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Matsumoto, Naomichi"}], "nameIdentifiers": [{"nameIdentifier": "81216", "nameIdentifierScheme": "WEKO"}]}, {"creatorNames": [{"creatorName": "Ozono, Keiichi"}], "nameIdentifiers": [{"nameIdentifier": "81217", "nameIdentifierScheme": "WEKO"}]}]}, "item_files": {"attribute_name": "ファイル情報", "attribute_type": "file", "attribute_value_mlt": [{"accessrole": "open_date", "date": [{"dateType": "Available", "dateValue": "2020-12-23"}], "displaytype": "detail", "download_preview_message": "", "file_order": 0, "filename": "CPE13_1_17_23.pdf", "filesize": [{"value": "562.7 kB"}], "format": "application/pdf", "future_date_message": "", "is_thumbnail": false, "licensetype": "license_free", "mimetype": "application/pdf", "size": 562700.0, "url": {"label": "CPE13_1_17_23.pdf", "url": "https://nagasaki-u.repo.nii.ac.jp/record/19460/files/CPE13_1_17_23.pdf"}, "version_id": "04b22f52-7a67-4188-8d03-4fac7dcfb185"}]}, "item_keyword": {"attribute_name": "キーワード", "attribute_value_mlt": [{"subitem_subject": "Weaver syndrome", "subitem_subject_scheme": "Other"}, {"subitem_subject": "overgrowth", "subitem_subject_scheme": "Other"}, {"subitem_subject": "advanced bone age", "subitem_subject_scheme": "Other"}, {"subitem_subject": "Sotos syndrome", "subitem_subject_scheme": "Other"}, {"subitem_subject": "NSD1 gene", "subitem_subject_scheme": "Other"}]}, "item_language": {"attribute_name": "言語", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"resourcetype": "journal article", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome"}]}, "item_type_id": "2", "owner": "2", "path": ["30"], "permalink_uri": "http://hdl.handle.net/10069/18793", "pubdate": {"attribute_name": "公開日", "attribute_value": "2008-08-11"}, "publish_date": "2008-08-11", "publish_status": "0", "recid": "19460", "relation": {}, "relation_version_is_last": true, "title": ["Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome"], "weko_shared_id": -1}
Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome
http://hdl.handle.net/10069/18793
http://hdl.handle.net/10069/1879309bd5d3c-2325-4214-a195-a39c90d62877
名前 / ファイル | ライセンス | アクション |
---|---|---|
CPE13_1_17_23.pdf (562.7 kB)
|
|
Item type | 学術雑誌論文 / Journal Article(1) | |||||
---|---|---|---|---|---|---|
公開日 | 2008-08-11 | |||||
タイトル | ||||||
タイトル | Hormonal and Genetical Assessment of a Japanese Girl with Weaver Syndrome | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Weaver syndrome | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | overgrowth | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | advanced bone age | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Sotos syndrome | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | NSD1 gene | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Miyoshi, Yoko
× Miyoshi, Yoko× Taniike, Masako× Mohri, Ikuko× Mushiake, Sotaro× Nakajima, Shigeo× Matsumoto, Naomichi× Ozono, Keiichi |
|||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | We report a case of Japanese girl with a rare disorder of Weaver syndrome, which was characterized by overgrowth with advanced and disharmonic bone age, craniofacial abnormalities, developmental delay, metaphyseal flaring of the long bones and camptodactyly. The patient was delivered at 38 weeks of gestation with a length of 54.2 cm (+ 2.6 SD), a weight of 3805 g (+ 2.5 SD) and an occipitofrontal circumference (OFC) of 35.0 cm (+ 1.1 SD). She manifested hypertonia and flexion contractures in the first few years. She also had submucosal soft cleft palate and difficulty in swallowing and breathing in early infancy. When she was 5 years and 7 months old, her height and weight were 133.3 cm (+ 5.5 SD) and 32.0 kg (+ 5.1 SD), respectively. We could not detect any endocrinological abnormalities for the cause of overgrowth. According to clinical features, Weaver syndrome was suspected and genetical analysis was performed. Fluorescence in situ hybridization (FISH) and direct sequencing analysis showed neither deletion nor point mutation of the nuclear receptor SET-domain-containing protein 1 (NSD1) gene on 5q35, which is responsible for Sotos syndrome. Therefore, we made a diagnosis of Weaver syndrome for this patient and discussed the differential diagnosis in terms of overgrowth syndrome. | |||||
書誌情報 |
Clinical pediatric endocrinology 巻 13, 号 1, p. 17-23, 発行日 2004-06 |
|||||
出版者 | ||||||
出版者 | 日本小児内分泌学会 | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 09185739 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA11006467 | |||||
権利 | ||||||
権利情報 | 日本小児内分泌学会 | |||||
権利 | ||||||
権利情報 | 本文データは学協会の許諾に基づきCiNiiから複製したものである | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Clinical pediatric endocrinology. 2004, 13(1), p.17-23 |