GENE MUTATIONS OF FGFR FAMILY USEFUL FOR PREDICTING OR DETECTING HYPOCHONDROPLASIA OR ACHONDROPLASIA

• 1. 一种肉鸡胫骨软骨发育不良早期诊断粪便生物标志物及其应用 [P] . 中国专利： CN114088855A . 2022-02-25
• 2. 11β-HSD2及表观遗传标记作为关节软骨发育不良及骨关节炎易感早期标志物的用途 [P] . 中国专利： CN113481292A . 2021-10-08
• 3. Gene Mutations of FGFR Family Useful for Predicting or Detecting Hypochondroplasia or Achondroplasia [P] . 韩国专利： KR101564329B1 . 2015-10-29

  机译： FGFR家族的基因突变可用于预测或检测软骨发育不良或软骨病

• 4. METHOD OF DETECTING SUCEPTIBILITY TO BREAST CANCER THROUGH MUTATIONS IN THE FGFR3 AND TP53 GENES [P] . 世界知识产权组织专利： WO2015035415A4 . 2015-06-11

  机译： 通过FGFR3和TP53基因突变检测乳腺癌敏感性的方法

• 5. METHOD OF DETECTING SUCEPTIBILITY TO BREAST CANCER THROUGH MUTATIONS IN THE FGFR3 AND TP53 GENES [P] . 世界知识产权组织专利： WO2015035415A1 . 2015-03-12

  机译： 通过FGFR3和TP53基因突变检测乳腺癌敏感性的方法

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• 2. Detecting the spectrum of multigene mutations in non-small cell lung cancer by Snapshot assay [J] . Jian Su, Xiao-Sui Huang, Yi-Long Wu, 癌症（英文版） . 2014,第007期
• 3. P53 GENE MUTATIONS IN NON-SMALL CELL LUNG CANCER DETECTED BY POLYMERASE CHAIN REACTION SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS [J] . 中国医学科学杂志（英文版） . 1999,第003期
• 4. P53 GENE MUTATIONS IN NON-SMALL CELL LUNG CANCER DETECTED BY POLYMERASE CHAIN REACTION SINGLE-STRAND CONFORMATION POLYMORPHISM ANALYSIS [J] . 赵永良, 吴德昌, 项晓琼, 中国医学科学杂志：英文版 . 1999,第003期
• 5. Common Mutations in the Fibroblast Growth Factor Receptor 3 (FGFR 3) Gene Account for Achondroplasia, Hypochondroplasia and Thanatophoric Dwarfism [J] . J. Bonaventure, F. Rousseau, L. Legeai-Mallet, Clinical Pediatric Endocrinology . 1997,第Supple10期
• 6. Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 FGFR3 mutation [J] . Couser Natario L., Pande Chetna K., Turcott Christie M., American journal of medical genetics, Part A . 2017,第4期
• 7. Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al [J] . MJ Friez, JA Wilson European journal of human genetics: EJHG . 2008,第3期
• 8. Predictive Efficacy of Low Burden EGFR Mutation Detected by Next-Generation Sequencing on Response to EGFR Tyrosine Kinase Inhibitors in Non-Small-Cell Lung Carcinoma [C] . Yeul Hong Kim, Hye Sook Kim, Jae Sook Sung, Molecular Medicine TRI-CON. . 2014
• 9. Analysis of sequence variation in the three fibroblast growth factor receptor genes and estimation of mutation frequency at the achondroplasia base in pools of human sperm. [D] . Lind, Denise Loreen. 2002
• 10. Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing [O] . Guixiang Yao, Guangxin Wang, Dawei Wang, -1
• 11. FGFR3 gene mutation plus GRB10 gene duplication in a patient with achondroplasia plus growth delay with prenatal onset [O] . 2016

• 1. Evidence of Mutational Heterogeneity of the ALDH7A1 Gene in Tunisian Families： Molecular and Insilico Investigations [J] . Abdelaziz Tlili12 ,Marwa kharrat1 ,Emna Mkaouar-Rebai1 . 材料科学与工程：中英文B版 . 2016,第004期
• 2. 椎体软骨发育不良伴免疫调节异常一例并文献复习 [C] . 钟林庆 ,王琳 ,宋红梅 . 2018北京医学会儿科学分会学术年会暨北京医师协会儿内科医师分会学术年会 . 2018
• 3. 巴戟天多糖对胫骨软骨发育不良肉鸡肝脏功能和脂质代谢的影响 [A] . 孔安安 . 2021