家族性低身長
WordNet
- without possessing something at the time it is contractually sold; "he made his fortune by selling short just before the crash"
- the location on a baseball field where the shortstop is stationed
- low in stature; not tall; "he was short and stocky"; "short in stature"; "a short smokestack"; "a little man" (同)little
- lacking foresight or scope; "a short view of the problem"; "shortsighted policies"; "shortsighted critics derided the plan"; "myopic thinking" (同)shortsighted, unforesightful, myopic
- at a disadvantage; "I was caught short" (同)unawares
- (primarily spatial sense) having little length or lacking in length; "short skirts"; "short hair"; "the board was a foot short"; "a short toss"
- at some point or distance before a goal is reached; "he fell short of our expectations"
- clean across; "the cars axle snapped short"
- not holding securities or commodities that one sells in expectation of a fall in prices; "a short sale"; "short in cotton"
- of speech sounds or syllables of relatively short duration; "the English vowel sounds in `pat, `pet, `pit, `pot, putt are short"
- primarily temporal sense; indicating or being or seeming to be limited in duration; "a short life"; "a short flight"; "a short holiday"; "a short story"; "only a few short months"
- so as to interrupt; "She took him up short before he could continue"
- tending to crumble or break into flakes due to a large amount of shortening; "shortbread is a short crumbly cookie"; "a short flaky pie crust"
- relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
- occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
- high level of respect gained by impressive development or achievement; "a man of great stature"
- (of a standing person) the distance from head to foot (同)height
- the act of propping up with shores (同)shoring up, propping up
PrepTutorEJDIC
- (長さ・時間・距離などが)『短い』,近い・(人が)『背が低い』・(数量・期間などが)不足の』,乏しい;目標(標準)に達しない・(文などが)『簡潔な』,手短な・『そっけない』,ぞんぞいな,無愛想な・(ケーキなどが)かりかりする,さくさくする・(母音・音節が)短い;(詩の行の母音が)強勢のない・急に,突然・短いもの;欠けているもの・短篇映画(short movie, short subject) ・=short circuit・《複数形で》不足,欠損 / …‘を'短絡させる,ショートさせる / 短絡する,ショートする
- 家族の,家族特有の / 違伝的な,血統にあらわれる
- 『背』(せい),身長(height) / (身体の,また道徳的・知的な)発達,成長,進歩
- 半ズボン,ショートパンツ / 《おもに米》(男物下着の)パンツ
UpToDate Contents
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English Journal
- Role of G-proteins in the differentiation of epiphyseal chondrocytes.
- Chagin AS1, Kronenberg HM2.
- Journal of molecular endocrinology.J Mol Endocrinol.2014 Oct;53(2):R39-R45. Epub 2014 Jun 30.
- Herein, we review the regulation of differentiation of the growth plate chondrocytes by G-proteins. In connection with this, we summarize the current knowledge regarding each family of G-protein α subunit, specifically, Gαs, Gαq/11, Gα12/13, and Gαi/o. We discuss different mechanisms involved i
- PMID 24982242
- Familial Isolated Growth Hormone Deficiency Due to A Novel Homozygous Missense Mutation in the Growth Hormone Releasing Hormone Receptor Gene: Clinical Presentation with Hypoglycaemia.
- Demirbilek H1, Tahir S, Baran RT, Sherif M, Shah P, Ozbek MN, Hatipoglu N, Baran A, Arya VB, Hussain K.
- The Journal of clinical endocrinology and metabolism.J Clin Endocrinol Metab.2014 Sep 16:jc20142696. [Epub ahead of print]
- Context: Mutations in the growth hormone releasing hormone receptor (GHRHR) gene are a relatively rare cause of isolated growth hormone deficiency (IGHD). Objective: To understand the biochemical basis of hypoglycaemia in the index case and the molecular basis of severe short stature in a large cons
- PMID 25226297
- Clinical and biochemical consequences of an intragenic growth hormone receptor (GHR) deletion in a large Chinese pedigree.
- Klammt J1, Shen S, Kiess W, Kratzsch J, Stobbe H, Vogel M, Luo F, Pfäffle R.
- Clinical endocrinology.Clin Endocrinol (Oxf).2014 Sep 6. doi: 10.1111/cen.12606. [Epub ahead of print]
- OBJECTIVE: Growth hormone insensitivity (GHI) may be caused by failure of GH receptor function. Some patients bearing specific GHR mutations differ from classical GHI individuals by extremely elevated GH binding protein (GHBP) serum concentrations. We investigated clinical, genetic and biochemical c
- PMID 25196842
Japanese Journal
- Familial short stature with IGF-I receptor gene anomaly
- KAWASHIMA Yuki,TAKAHASHI Shin-Ichiro,KANZAKI Susumu
- Endocrine journal 59(3), 179-185, 2012-03-01
- NAID 10030748947
- Familial short stature with IGF-I receptor gene anomaly [Review]
- , ,
- Endocrine Journal 59(3), 179-185, 2012
- … Familial short stature with IGF-IR gene anomaly is considered rare, and the clinical condition and features remain unknown. … -1.5 SD), 2) a familial history of low birth weight, 3) a normal or increased IGF-I level, 4) a normal or increased GH response to the GH stimulation test, and/or 5) less response to GH treatment than common small for gestational age (SGA) short-stature patients. …
- NAID 130004443791
- Novel C617Y mutation in the 7th transmembrane segment of luteinizing hormone/choriogonadotropin receptor in a Japanese boy with peripheral precocious puberty
- , , , ,
- Endocrine Journal 57(12), 1055-1060, 2010
- … Testotoxicosis, also known as familial male-limited precocious puberty, is an autosomal dominant form of gonadotropin-independent precocious puberty caused by heterozygous constitutively activating mutations of the LHCGR gene encoding the luteinizing hormone/choriogonadotropin receptor (LH/CGR). … There is no history of short stature and precocious puberty in the family except for the father. …
- NAID 130004443602
Related Links
- ... (including undernutrition genetic disorders), familial short stature, and constitutional delay of growth and development. Endocrine diseases are rare causes of short stature (see Frequency). The hallmark of endocrine disease is ...
- familial short stature a condition characterized by height below the third percentile for age, normal annual growth rate, normal bone age, family history of short stature, expected adult height below the third percentile, normal onset of ...
★リンクテーブル★
[★]
- 英
- familial short stature FSS
[★]
- (比較級shorter-最上級shortest)短い、不足した、乏しい、省略された
- 関
- abbreviated、brevis、brief、dearth、deficit、in short、insufficiency、insufficient、lack、paucity、poor、scant、scanty、scarce、scarcity、shortage、shortness
[★]
- 関
- family、family member、household、kindred