WordNet

a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
British political cartoonist (born in New Zealand) who created the character Colonel Blimp (1891-1963) (同)David Low, Sir David Low, Sir David Alexander Cecil Low

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(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

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1. デント病（X連鎖劣性腎結石症） dents disease x linked recessive nephrolithiasis
2. 幼児および小児における尿細管性アシドーシスの病因および臨床症状 etiology and clinical manifestations of renal tubular acidosis in infants and children
3. 男性不妊症の原因 causes of male infertility
4. 小児における白内障 cataract in children
5. 児童虐待の整形外科的症状の鑑別診断 differential diagnosis of the orthopedic manifestations of child abuse

English Journal

"Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".

Abdalla E1, El-Beheiry A2, Dieterich K3, Thevenon J3, Fauré J4,5, Rendu J4,5.
American journal of medical genetics. Part A.Am J Med Genet A.2018 Feb;176(2):460-464. doi: 10.1002/ajmg.a.38572. Epub 2017 Dec 11.
PMID 29226564

A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.

Nakanishi K1, Nozu K2, Hiramoto R3, Minamikawa S1, Yamamura T1, Fujimura J1, Horinouchi T1, Ninchoji T1, Kaito H1, Morisada N1, Ishimori S1, Nakanishi K4, Morioka I1, Awano H1, Matsuo M5, Iijima K1.
European journal of medical genetics.Eur J Med Genet.2017 Dec;60(12):631-634. doi: 10.1016/j.ejmg.2017.08.001. Epub 2017 Aug 9.
PMID 28803024

Control of actin polymerization via the coincidence of phosphoinositides and high membrane curvature.

Daste F1, Walrant A1, Holst MR2, Gadsby JR1, Mason J1, Lee JE3, Brook D1, Mettlen M4, Larsson E2, Lee SF3, Lundmark R2, Gallop JL5.
The Journal of cell biology.J Cell Biol.2017 Nov 6;216(11):3745-3765. doi: 10.1083/jcb.201704061. Epub 2017 Sep 18.
PMID 28923975

Related Links

Lowe-Terrey-MacLachlan syndrome

Lowe-Terrey-MacLachlan syndrome Lowe-Ter·rey-Mac·Lach·lan syndrome (loґ terґe m ə k-lahkґl ə n) [C.U. Lowe; Mary Terrey, American physician, 20th century; Elsie A. MacLachlan, American physician, 20th century] oculocerebrorenal syndrome .

About Lowe Syndrome - The Lowe Syndrome Trust

About Lowe Syndrome. Lowe Syndrome (LS) is a rare genetic condition that causes physical and mental handicaps, and medical problems. It was first described in 1952 by Drs. Lowe, Terrey, and MacLachlan at the Massachusetts General Hospital in Boston. LS is caused by a single defective gene (an alteration or “mutation”) in a gene called OCRL1.

ロウ（Lowe）症候群概要 - 小児慢性特定疾病情報センター

本症は眼症状，中枢神経症状，腎尿細管機能障害を主徴とし，1952年にLoweらにより報告された遺伝性疾患である (1)。. 近年は，oculocerebrorenal syndrome of Lowe (OCRL) (MIM309000)とも呼ばれている。. X染色体劣性遺伝疾患であり，男児10万人に数人の発症とされるが，正確な発症頻度や患者数は不明である (2)。. 1982年の我が国の尿細管性アシドーシス (RTA)の全国調査では，RTAの約1/3 ...