achondroplasia

achondroplasia

1. Gly374Arg mutation in Fgfr3 causes achondroplasia in mice

Fgfr3基因374点突变致软骨发育不全小鼠模型的建立与分析

2. Mutation analysis of fibroblast growth factor receptor 3 gene in an achondroplasia family

一个软骨发育不全家系成纤维细胞生长因子受体3基因突变分析

3. For example, achondroplasia, a common form of dwarfism, usually occurs as a result of a mutation at base pair 1138 in a gene called FGFR3 on the short arm of human chromosome 4.

举例来说，软骨发育不全症（achondroplasia，一种常见的侏儒症）通常是人类第四对染色体短臂上FGFR3这个基因的第1138个碱基对发生突变。

4. Their newborn daughter died last year from a deastating dwarfism-related disease called homozygous achondroplasia.

他们的新生女儿去年死于一种破坏性很强的侏儒相关性疾病，叫做纯合软骨发育不良。

5. My eight-year-son, Jimmy is average height, as is my husband, George.Like most achondroplasia dwarfs, I have two average-height parets, as well as an average-height brother.

像其他患有软骨不全型侏儒患者一样，虽然我的个头很小，但我的父母，弟弟他们的身高却完全正常。

6. Like most achondroplasia dwarfs, I have two average-height parents, as well as an average-height brother.

像大多数患有软骨发育不全症的侏儒一样，我的父母身高正常，我的兄弟也很正常。

7. Keywords Achondroplasia;Polymerase chain reaction;Single-Stronded conformation poly morphism;

先天性软骨发育不全;聚合酶链反应;单链构象多态;

8. Genetical diagnosis in a congenital achondroplasia family

先天性软骨发育不全一家系的基因诊断

9. Detection of fibroblast growth factor receptor 3 gene mutation at nucleotide 1138 site in congenital achondroplasia patients

先天性软骨发育不全成纤维细胞生长因子受体3基因1138位核苷酸点突变的检测

10. Keywords single cell nested polymerase chain reaction;achondroplasia;preimplantation genetic diagnosis;mutation detection;

关键词单细胞巢式聚合酶链反应;软骨发育不全;植入前遗传学诊断;突变检测;

11. Keywords Gene mutation;achondroplasia;fibroblast growt h factor receptor 3;germline mosaicism;

关键词基因突变;先天性软骨发育不全;成纤维细胞生长因子受体3;生殖细胞嵌合;

12. Keywords achondroplasia;fibroblast growth factor receptor 3;dry blood spot card;single strand conformation polymorphism;denaturing gradient gel electrophoresis;

关键词软骨发育不全;成纤维细胞生长因子受体3;干血滤纸片;单链构象多态性分析;变性梯度凝胶电泳;

13. Diagnosing achondroplasia by single cell nested-PCR

单细胞巢式PCR诊断软骨发育不全

14. fowl achondroplasia

家禽软骨症

15. Genetic counselling and the management of complications in achondroplasia are important.

对于软骨发育不全侏儒患者的遗传谘询以及其并发症的处理是很重要的。

16. X-ray analysis of achondroplasia in children

小儿软骨发育不全的X线分析

17. Keywords mouse model in point mutation;fibroblast growth factor receptor 3;achondroplasia;

小鼠点突变模型;成纤维细胞生长因子3型受体;软骨发育不全;

18. Energetic as Wan-yu is, she suffers from achondroplasia and is destined never to grow to an average size.

尽管婉榆活泼好动，她却患有软骨发育不全症，注定无法长到正常人的身高。

19. of or relating to achondroplasia.

属于或关于软骨发育不全的。

20. Studies are limited on the radiologic assessment of the angle of wedging of the deformed vertebra, but none to our knowledge on TLK progression in achondroplasia.

当前的研究局限于对畸形的椎骨的楔入角度的影像学评估，未见对软骨发育不全的TKL进展方面的研究。

21. The model of Fgfr3 Gly374Arg mutation causing achondroplasia in mice has been established successfully.

成功地建立了模拟人Fgfr3-Gly374Arg点突变所致软骨发育不全的小鼠模型。

22. We report a rare instance of achondroplasia in a 3-month-old female infant with the risk of spinal cord compression during the manipulation of endotracheal intubation.

我们报告一个三个月大患有软骨发育不全症的病例，因枕骨大孔狭窄造成水脑症必须进行枕骨下头颅切开减压手术。

23. I stand three feet, nine inches tall.I am an achondroplasia dwarf, which is a person having very short limbs.

我只有三英尺九英寸高，是一个患软骨发育不全症的侏儒，四肢短小。

24. Residual OSAHS after surgery were attributable to obesity, achondroplasia, upper airway structure anomaly and airway dynamic problems.

手术后仍有OSAHS表现的主要原因是肥胖、骨软骨发育不良、上气道解剖结构异常以及维持气道开放的神经肌肉功能异常。

25. Twenty-five cases of achondroplasia followed for a period of recent three years are reviewed.

摘要我们分析在3年中遇到的25例软骨发育不全侏儒。

26. Methods: A retrospective review of the records of two cases of achondroplasia was conducted.

方法复习1447例尸检中诊断为软骨发育不全的2例作回顾性研究。

27. Methods.The records of 48 of 103 children with achondroplasia seen between 1997 and 2005 were examined.

方法：调查了1997至2005年间103名软骨发育不全患者中的48人的病历。

28. 1.The head girths of several patients were above the 97th percentile of the normal growth curve, but were normal in a special growth chart for achondroplasia.

有几位患者的头围大于正常生长曲线的第97个百分位数，可是在软骨发育不全侏儒患者特有的生长曲线中，这些头围是正常的。

29. bovine achondroplasia

牛软骨发育不全

30. Objective: To study the clinical,sonographic,radiographic and pathologic characteristics of achondroplasia.

目的研究软骨发育不全的临床、影像学和病理学表现。

31. Purpose To investigate the pathologic characteristics of achondroplasia.

目的研究软骨发育不全的病理学特征。

32. achondroplasia of rib

肋软骨发育不全

33. Summary of Background Data.TLK is a common presentation in children with achondroplasia.

背景知识概要：TKL是软骨发育不全的儿童的一种常见表现。

34. Ultrasonic diagnosis of fetus achondroplasia (analysis of 7 cases)

胎儿软骨发育不全的超声诊断(附7例分析)

35. achondroplasia [failure of normal cartilage development]

软骨发育不全

36. achondroplasia and Swiss-type agammaglobulinemia

软骨发育不全及瑞士型无丙球蛋白血征

37. The conclution is that the achondroplasia patients have point mutation in the transmembrane domain of FGFR3 and the codon 380 is the hotspot of the mutation. ?

软骨发育不全患者出现FGFR3基因跨膜区的点突变，380位密码子是软骨发育不全患者突变的热点。

38. Achondroplasia syndrome

软骨发育不全综合征

39. chondrodystrophy achondroplasia

软骨营养不良

40. The teenager, who is the world's smallest girl according to the Indian Book of Records, has a form of dwarfism called achondroplasia.

这个体形矮小的女孩子患有软骨发育不全症，根据印度方面的纪录，软骨发育不全是世界上最小的女孩。

41. "Hereditary dwarfisms include achondroplasia, with normal trunk size but short limbs and a large head;"

遗传性侏儒症包括︰软骨发育不全，躯干发育正常，但肢体极短，头较大