软骨发育不全及相关类型侏儒症中的成纤维细胞生长因子受体3突变 - Suppr | 超能文献

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Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism.软骨发育不全及相关类型侏儒症中的成纤维细胞生长因子受体3突变

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The genetic basis of dwarfism.

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[Achondroplasia, hypochondroplasia].[软骨发育不全，低软骨发育不全]

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Dwarfism in Dexter cattle is not caused by the mutations in FGFR3 responsible for achondroplasia in humans.德克斯特牛的侏儒症并非由导致人类软骨发育不全的FGFR3基因突变引起。

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[Differentiation of achondroplasia and other similar genetic dwarfism by FGFR3 gene analysis].[通过FGFR3基因分析鉴别软骨发育不全和其他类似遗传性侏儒症]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2000 Aug;17(4):252-5.

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Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.成纤维细胞生长因子受体3（FGFR 3）基因的常见突变导致软骨发育不全、软骨发育低下和致死性侏儒症。

Am J Med Genet. 1996 May 3;63(1):148-54. doi: 10.1002/(SICI)1096-8628(19960503)63:1<148::AID-AJMG26>3.0.CO;2-N.

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Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.软骨发育不全中纤维母细胞生长因子受体-3基因的突变

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Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.导致软骨发育不全和致死性发育异常的突变对成纤维细胞生长因子受体3的分级激活。

Nat Genet. 1996 Jun;13(2):233-7. doi: 10.1038/ng0696-233.

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Fibroblast growth factor receptor 3 and the human chondrodysplasias.成纤维细胞生长因子受体3与人类软骨发育不全症

Curr Opin Pediatr. 1997 Aug;9(4):437-42. doi: 10.1097/00008480-199708000-00021.

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Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients.日本患者中1例家族性和6例散发性软骨发育不全病例的成纤维细胞生长因子受体-3基因突变

Hum Genet. 1995 Sep;96(3):309-11. doi: 10.1007/BF00210413.

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Candidate genes for obstructive sleep apnea in non-syndromic children with craniofacial dysmorphisms - a narrative review.非综合征性颅面畸形儿童阻塞性睡眠呼吸暂停的候选基因——一篇叙述性综述

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Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients.成骨不全症患者的颅面生长和功能：15 例患者的多模态 3D 研究。

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Whole-body and segmental analysis of body composition in adult males with achondroplasia using dual X-ray absorptiometry.

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Coordination of chondrogenesis and osteogenesis by fibroblast growth factor 18.成纤维细胞生长因子18对软骨生成和成骨的协调作用。

Genes Dev. 2002 Apr 1;16(7):859-69. doi: 10.1101/gad.965602.

2

Mutations in fibroblast growth factor receptor 2 and fibroblast growth factor receptor 3 genes associated with human gastric and colorectal cancers.与人类胃癌和结直肠癌相关的成纤维细胞生长因子受体2和成纤维细胞生长因子受体3基因的突变。

Cancer Res. 2001 May 1;61(9):3541-3.

3

The fibroblast growth factor receptor 3 (FGFR3) mutation is a strong indicator of superficial bladder cancer with low recurrence rate.