遺伝性難聴、遺伝性聴覚欠損
- 関
- hereditary deafness
WordNet
- the amount by which the cost of a business exceeds its revenue; "the company operated at a loss last year"; "the company operated in the red last year" (同)red ink, red
- gradual decline in amount or activity; "weight loss"; "a serious loss of business"
- something that is lost; "the car was a total loss"; "loss of livestock left the rancher bankrupt"
- the disadvantage that results from losing something; "his loss of credibility led to his resignation"; "losing him is no great deprivation" (同)deprivation
- the act of losing someone or something; "everyone expected him to win so his loss was a shock"
- the experience of losing a loved one; "he sympathized on the loss of their grandfather"
- able to perceive sound
- an opportunity to state your case and be heard; "they condemned him without a hearing"; "he saw that he had lost his audience" (同)audience
- (law) a proceeding (usually by a court) where evidence is taken for the purpose of determining an issue of fact and reaching a decision based on that evidence
- the ability to hear; the auditory faculty; "his hearing was impaired" (同)audition, auditory sense, sense of hearing, auditory modality
- a session (of a committee or grand jury) in which witnesses are called and testimony is taken; "the investigative committee will hold hearings in Chicago"
- receive from a predecessor; "The new chairman inherited many problems from the previous chair"
- obtain from someone after their death; "I inherited a castle from my French grandparents"
- receive by genetic transmission; "I inherited my good eyesight from my mother"
PrepTutorEJDIC
- 〈U〉(…を)『失うこと』,紛失《+『of』+『名』》 / 〈C〉(…の)『損害』,損失;損失額《+『of』+『名』》 / 〈U〉〈C〉(…に)『負けること』,(…の)敗北;失敗《+『of』+『名』》 / 〈U〉(状態・程度の)『減少』,低下 / 《複数形で》(戦場における)(人の)損害,此傷者数
- 〈U〉『聴力』,聴覚〈U〉〈C〉(…を)『聞くこと』,(…の)聞き取り《+『of』+『名』》・〈C〉聞いてもらう機会,聞いてやること・聴取・聴聞会〈C〉(法廷などでの)尋問,審問,;(刑罰の減免を求める)釈明,意見陳述 / 〈U〉聞こえる距離(範囲)
- (…から)〈財産・権利・称号など〉‘を'『相続する』《+『名』+『from』+『名』》 / (…から)〈体質・性質など〉‘を'『受け継ぐ』《+『名』+『from』+『名』》 / (前任者・前代から)…‘を'受け継ぐ,継承ぐ,継承する《+『名』+『from』+『名』》 / 財産を相続する
- 負ける,損をする,勝ち目がない
UpToDate Contents
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English Journal
- Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing.
- Yuan L, Wu S, Xu H, Xiao J, Yang Z, Xia H, Liu A, Hu P, Lu A, Chen Y, Xu F, Deng H.
- Biological chemistry.Biol Chem.2015 Jan 1;396(1):27-33. doi: 10.1515/hsz-2014-0187.
- Abstract Familial hypophosphatemic rickets (HR), the most common inherited form of rickets, is a group of inherited renal phosphate wasting disorders characterized by growth retardation, rickets with bone deformities, osteomalacia, poor dental development, and hypophosphatemia. The purpose of this s
- PMID 25060345
- Gene therapy for sensorineural hearing loss.
- Chien WW1, Monzack EL, McDougald DS, Cunningham LL.
- Ear and hearing.Ear Hear.2015 Jan;36(1):1-7. doi: 10.1097/AUD.0000000000000088.
- Gene therapy is a promising treatment modality that is being explored for several inherited disorders. Multiple human gene therapy clinical trials are currently ongoing, but few are directed at hearing loss. Hearing loss is one of the most prevalent sensory disabilities in the world, and genetics pl
- PMID 25166629
- Detailed Assessment of Renal Function in a Proband with Harboyan Syndrome Caused by a Novel Homozygous SLC4A11 Nonsense Mutation.
- Liskova P1, Dudakova L, Tesar V, Bednarova V, Kidorova J, Jirsova K, Davidson AE, Hardcastle AJ.
- Ophthalmic research.Ophthalmic Res.2014 Dec 11;53(1):30-35. [Epub ahead of print]
- Background/Aims: To identify the underlying molecular genetic cause of disease in a patient with Harboyan syndrome and to perform a detailed assessment of her renal function. We also assessed the influence of the SLC4A11 mutation identified on the corneal endothelium in the heterozygous state. Metho
- PMID 25500497
Japanese Journal
- A Case of Teunissen-Cremers Syndrome
- 新規PAX3遺伝子変異にて発症したワールデンブルグ症候群タイプ1例
- 耳鼻咽喉科臨床. 補冊 = Practica otologica. Suppl. (136), 75-79, 2013-08-01
- NAID 10031188267
Related Links
- Summary. Disease characteristics. Hereditary hearing loss and deafness may be conductive, sensorineural, or a combination of both; syndromic (associated with malformations of the external ear or other organs or with medical problems ...
- Autosomal Recessive Inheritance. ❧ Most common pattern of transmission in hereditary hearing loss. ❧ 25% chance that offspring will be affected. ❧ Characterized by horizontal pattern of affected individuals. ❧ For offspring to have disorder, ...
Related Pictures
★リンクテーブル★
[★]
- 英
- inherited hearing loss
- 関
- 遺伝性難聴
[★]
遺伝性難聴
- 関
- inherited hearing loss
[★]
- 聴力、聴覚。聞くこと、聴取。聞こえる距離/範囲。聞いてやること、傾聴。聞いてもらうこと、発言の機会。(委員会などの)聴聞会、ヒアリング。(法)審問、尋問。
[★]
- 関
- decline、decrease、diminish、diminution、down-regulate、down-regulation、downregulate、downregulation、fall、reduce、reduction
[★]
- 関
- hereditary、heredity、inheritance
[★]
- 関
- hereditary、heritable、inheritable、inheritable character
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