耳口蓋指趾症候群
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
English Journal
- Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
- Nurden P, Debili N, Coupry I, Bryckaert M, Youlyouz-Marfak I, Solé G, Pons AC, Berrou E, Adam F, Kauskot A, Lamazière JM, Rameau P, Fergelot P, Rooryck C, Cailley D, Arveiler B, Lacombe D, Vainchenker W, Nurden A, Goizet C.SourceCentre de Référence des Pathologies Plaquettaires, Plateforme Technologique d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France. paquita.nurden@cnrshl.u-bordeaux2.fr
- Blood.Blood.2011 Nov 24;118(22):5928-37. doi: 10.1182/blood-2011-07-365601. Epub 2011 Sep 29.
- Filaminopathies A caused by mutations in the X-linked FLNA gene are responsible for a wide spectrum of rare diseases including 2 main phenotypes, the X-linked dominant form of periventricular nodular heterotopia (FLNA-PVNH) and the otopalatodigital syndrome spectrum of disorders. In platelets, filam
- PMID 21960593
- Structure of filamin A immunoglobulin-like repeat 10 from Homo sapiens.
- Page RC, Clark JG, Misra S.SourceDepartment of Molecular Cardiology, Lerner Research Institute, Cleveland Clinic, Cleveland, OH 44195, USA. pager2@ccf.org
- Acta crystallographica. Section F, Structural biology and crystallization communications.Acta Crystallogr Sect F Struct Biol Cryst Commun.2011 Aug 1;67(Pt 8):871-6. doi: 10.1107/S1744309111024249. Epub 2011 Jul 26.
- Filamin A (FlnA) plays a critical role in cytoskeletal organization, cell motility and cellular signaling. FlnA utilizes different binding sites on a series of 24 immunoglobulin-like domains (Ig repeats) to interact with diverse cytosolic proteins and with cytoplasmic portions of membrane proteins.
- PMID 21821884
- In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males.
- Parrini E, Rivas IL, Toral JF, Pucatti D, Giglio S, Mei D, Guerrini R.SourcePediatric Neurology Unit and Laboratories, Children's Hospital A. Meyer-University of Florence, Italy.
- American journal of medical genetics. Part A.Am J Med Genet A.2011 May;155A(5):1140-6. doi: 10.1002/ajmg.a.33880. Epub 2011 Apr 11.
- Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. Truncating and missense mutations of the FLNA gene have been identified in almost 100% of families and 26% of sporadic patients with PH. Th
- PMID 21484998
Japanese Journal
- 臨床室 Melnick-Needles症候群の1例
Related Links
- Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes ...
- Otopalatodigital syndrome type 2 is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which ...
★リンクテーブル★
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- 英
- Taybi syndrome
- 同
- 耳口蓋指症候群 oto-palate-digital症候群 otopalatodigital syndrome oto-palato-digital syndrome OPD syndrome
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