ベーイエソン・フォルスマン・レーマン症候群
WordNet
- a pattern of symptoms indicative of some disease
- a complex of concurrent things; "every word has a syndrome of meanings"
PrepTutorEJDIC
- (疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
UpToDate Contents
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English Journal
- The sub-nucleolar localization of PHF6 defines its role in rDNA transcription and early processing events.
- Todd MA1,2, Huh MS1, Picketts DJ1,2,3.
- European journal of human genetics : EJHG.Eur J Hum Genet.2016 May 11. doi: 10.1038/ejhg.2016.40. [Epub ahead of print]
- Ribosomal RNA synthesis occurs in the nucleolus and is a tightly regulated process that is targeted in some developmental diseases and hyperactivated in multiple cancers. Subcellular localization and immunoprecipitation coupled mass spectrometry demonstrated that a proportion of plant homeodomain (P
- PMID 27165002
- (1)H, (13)C and (15)N resonance assignments and secondary structure of the human PHF6-ePHD1 domain.
- Bao Y1, Liu Z1, Zhang J1, Wu J2, Shi Y3.
- Biomolecular NMR assignments.Biomol NMR Assign.2016 Apr;10(1):1-4. doi: 10.1007/s12104-015-9627-x. Epub 2015 Aug 19.
- The plant homeodomain (PHD) finger 6 (PHF6) is a multidomain protein that comprises four nuclear localization signals and two extended PHD zinc finger domains (ePHD), suggesting that the PHD domains of PHF6 may have different functions compared with other PHD domains. And the PHF6 was first identifi
- PMID 26286319
- An unusual linear hypermelanosis reflecting lyonization in women with Börjeson-Forssman-Lehmann syndrome.
- Happle R1.
- Journal of the European Academy of Dermatology and Venereology : JEADV.J Eur Acad Dermatol Venereol.2016 Feb;30(2):323-4. doi: 10.1111/jdv.12717. Epub 2014 Sep 11.
- PMID 25209262
Japanese Journal
- Borjeson-Forssman-Lehmann syndrome : clinical manifestations and gene localization to Xq26-27
Related Links
- 301900 - BORJESON-FORSSMAN-LEHMANN SYNDROME; BFLS - MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE; MRXSBFL;; BORJESON SYNDROME; BORJ ... NOTE: OMIM ...
- Clinical test for Borjeson-Forssman-Lehmann syndrome offered by Greenwood Genetic Center Diagnostic Laboratories ... Borjeson-Forssman-Lehmann syndrome (BFLS) Also known as Help Synonym(s) for the condition/phenotype ...
★リンクテーブル★
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- 英
- Borjeson-Forssman-Lehmann syndrome BFLS
- 同
- 精神遅滞・てんかん・内分泌障害症候群 mental retardation-epilepsy-endocrine disorders syndrome
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