WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
the narrow central part of the cerebellum between the two hemispheres (同)vermis_cerebelli

PrepTutorEJDIC

全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.

1. 後方循環系の脳血管症候群 posterior circulation cerebrovascular syndromes
2. ネフロン癆の臨床症状、診断、および治療 clinical manifestations diagnosis and treatment of nephronophthisis
3. 脊髄小脳変性症 the spinocerebellar ataxias
4. 幼児血管腫の疫学、病因、臨床的特徴、および合併症 epidemiology pathogenesis clinical features and complications of infantile hemangiomas
5. 閉じ込め症候群 locked in syndrome

ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome.

Meuwissen ME1, Lequin MH, Bindels-de Heus K, Bruggenwirth HT, Knapen MF, Dalinghaus M, de Coo R, van Bever Y, Winkelman BH, Mancini GM.
American journal of medical genetics. Part A.Am J Med Genet A.2013 Jun;161A(6):1376-80. doi: 10.1002/ajmg.a.35858. Epub 2013 Apr 23.
Thoracic aortic aneurysm and dissection (TAAD) are associated with connective tissue disorders like Marfan syndrome and Loeys-Dietz syndrome, caused by mutations in the fibrillin-1, the TGFβ-receptor 1- and -2 genes, the SMAD3 and TGFβ2 genes, but have also been ascribed to ACTA2 gene mutations in
PMID 23613326

GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.

Bahi-Buisson N1, Poirier K, Boddaert N, Fallet-Bianco C, Specchio N, Bertini E, Caglayan O, Lascelles K, Elie C, Rambaud J, Baulac M, An I, Dias P, des Portes V, Moutard ML, Soufflet C, El Maleh M, Beldjord C, Villard L, Chelly J.
Brain : a journal of neurology.Brain.2010 Nov;133(11):3194-209. doi: 10.1093/brain/awq259. Epub 2010 Oct 7.
GPR56 mutations cause an autosomal recessive polymicrogyria syndrome that has distinctive radiological features combining bilateral frontoparietal polymicrogyria, white matter abnormalities and cerebellar hypoplasia. Recent investigations of a GPR56 knockout mouse model suggest that bilateral bifron
PMID 20929962

New cerebellar phenotypes in YAC transgenic mouse in vivo library of human Down syndrome critical region-1.

Rachidi M1, Lopes C, Vayssettes C, Smith DJ, Rubin EM, Delabar JM.
Biochemical and biophysical research communications.Biochem Biophys Res Commun.2007 Dec 21;364(3):488-94. Epub 2007 Oct 16.
Down syndrome (DS) is the most frequent genetic cause of mental retardation (MR) associated with neurological alterations. To allow a genetic dissection of DS phenotype, we studied eight transgenic mouse lines carrying YACs containing human DNA fragments covering DS critical region (DCR-1), as an in
PMID 17963726