- adj.
- (後置するラテン語形容詞)先天性の
- ex.
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- 1. 新生児における血管病変 vascular lesions in the newborn
- 2. 小児における遺伝性再生不良性貧血 inherited aplastic anemia in children
- 3. 脊髄性筋萎縮症 spinal muscular atrophy
- 4. 新生児における小水疱性および膿疱性の病変 vesiculobullous and pustular lesions in the newborn
- 5. 新生児および乳児における皮膚および頭皮の良性病変 benign skin and scalp lesions in the newborn and young infant
English Journal
- Squamous cell carcinomas in patients with Fanconi anemia and dyskeratosis congenita: A search for human papillomavirus.
- Alter BP, Giri N, Savage SA, Quint WG, de Koning MN, Schiffman M.SourceClinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD, USA.
- International journal of cancer. Journal international du cancer.Int J Cancer.2013 Sep 15;133(6):1513-5. doi: 10.1002/ijc.28157. Epub 2013 Apr 5.
- Patients with Fanconi anemia (FA) and dyskeratosis congenita (DC) are at high risk of head and neck squamous cell carcinomas (HNSCC) and anogenital squamous cell carcinomas (SCC). In the general population, these sites (particularly oropharyngeal SCC) may be associated with infection with human papi
- PMID 23558727
- Non-telomeric epigenetic and genetic changes are associated with the inheritance of shorter telomeres in mice.
- Roberts AR, Huang E, Jones L, Daxinger L, Chong S, Whitelaw E.SourceQueensland Institute of Medical Research, Herston, QLD, Australia.
- Chromosoma.Chromosoma.2013 Jul 18. [Epub ahead of print]
- Studies using human and mouse cells have revealed some changes to non-telomeric chromatin and gene expression in response to abnormally short telomeres. To investigate this further, we studied the effect of inheriting shorter telomeres on transcription and genetic stability at non-telomeric sites in
- PMID 23864360
- Novel mutation (p.L91P, c.272T>C) of keratin 17 in a case with pachyonychia congenita type 2.
- Ichimiya M, Yamaguchi M, Nemoto K, Muto M.SourceDepartment of Dermatology, Yamaguchi University Graduate School of Medicine, Ube, Japan.
- The Journal of dermatology.J Dermatol.2013 Jul 16. doi: 10.1111/1346-8138.12212. [Epub ahead of print]
- PMID 23855588
Japanese Journal
- A large cohort of myotonia congenita probands : novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene
- Brugnoni Raffaella,Kapetis Dimos,Imbrici Paola [他]
- Journal of human genetics 58(9), 581-587, 2013-09
- NAID 40019791907
- 骨格筋型塩化物イオンチャネル遺伝子(CLCN1)の複合ヘテロ接合体変異で重症化したThomsen病
- 佐々木 良元,高橋 正紀,穀内 洋介 [他]
- 臨床神経学 53(4), 316-319, 2013-04
- NAID 40019663429
- 臨床研究・症例報告 先天性パラミオトニアの1孤発例
- 新井 ひでえ,田邉 雄三,迫田 俊一
- 小児科臨床 66(2), 322-326, 2013-02
- NAID 40019547252
Related Links
- Congenital myotonia (also myotonia congenita) is a genetic, neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is congenital, meaning that it is present from birth. Amongst other problems, it causes ...
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★リンクテーブル★
| リンク元 | 「congenitally」「先天性」 |
| 拡張検索 | 「congenital lipodystrophy」「congenital foot deformity」「congenital microvillus atrophy」 |
「congenitally」
- 先天的に、先天性に