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天昊合作发表论文汇总
 

1.   潘发明, Association between DEFB103 gene copy number variation and ankylosing spondylitis: a case–control study. Tissue Antigens 2.137.( 2015 July 30)

2.   张正华, Genomic variations of the mevalonate pathway in porokeratosis. Elife 9.322.( 2015 July 23)
3.   李红,
SNPscan as a high-performance screening tool for mutation hotspots of hearing loss-associated genes. Genomics 2.284(2015 May 22)
4.   曹丽萍. 徐格林,
Mitochondrial DNA haplogroups and short-term neurological outcomes of ischemic stroke. Scientific Reports 5.078(2015 May)
5.   傅启华.孙锟,
A modified multiplex ligation-dependent probe amplification method for the detection of 22q11.2 copy number variations in patients with congenital heart disease. BMC Genomics 4.04(2015 May 8)
6.   Liangchang Xiu, Meihua Lin,
Association of DRD3, COMT, and SLC6A4 Gene Polymorphisms with Type 2 Diabetes in Southern Chinese: A Hospital-Based Case–Control Study. Diabetes Technology & Therapeutics 2.293(2015 Apr 30)
7.  王久存,
Association between HLA-DQA1 gene copy number polymorphisms and susceptibility to rheumatoid arthritis in Chinese Han population. Journal of Genetics 1.013(2014 Apr)
8.  袁慧军,
A rapid method for simultaneous multi-gene mutation screening in children with nonsyndromic hearing loss.      Genomics 2.793(2014 Aug )
9.  Yang ZZ,
A polymorphism in the DNA repair domain of APEX1 is associated with the radiation-induced pneumonitis risk among lung cancer patients after radiotherapy.Radiol 1.533(2014 Aug)
10. Jian Huang,
Silencing of DLGAP5 by siRNA Significantly Inhibits the Proliferation and Invasion of Hepatocellular Carcinoma Cells.PLOS ONE 3.534(2014)
11.  韩伟.
ADAM33 polymorphisms are associated with asthma and a distinctive palm dermatoglyphic pattern.Molecular Medicine Reports 1.17(2013)
12.  Jindong Ni,
Association between microRNA polymorphisms and humoral immunity to hepatitis B vaccine.Human Vaccines & Immunotherapeutics 3.136(2013)
13. 黄隽,
Haplotype analysis of eight genes of the monoubiquitinated FANCD2–DNA damage–repair pathway in breast cancer patients.Cancer Epidemiology 2.232(2013)
14.  陈锦飞. 张正东. 汤翠菊,
Clinical Significance of MYT1L Gene Polymorphisms in Chinese Patients with Gastric Cancer.PLOS ONE 3.73(2013)
15.  唐鲲,
Detecting Genetic Association of Common Human Facial Morphological Variation Using High Density 3D Image Registration.PLOS Computational Biology 4.829(2013)
16.    B. Liu et al.,
A functional copy-number variation in MAPKAPK2 predicts risk and prognosis of lung cancer. American journal of human genetics 91, 384 (Aug 10, 2012).
17    R. Du et al., Efficient typing of copy number variations in a segmental duplication-mediated rearrangement hotspot using multiplex competitive amplification. Journal of human genetics 57, 545 (Aug, 2012).
18.    H. W. Xiao et al., Relationship between TNFA, TNFB and TNFRII gene polymorphisms and outcome after unrelated hematopoietic cell transplantation in a Chinese population. Bone marrow transplantation 46, 400 (Mar, 2011).
19.    H. Xiao et al., Immunosuppressive cytokine gene polymorphisms and outcome after related and unrelated hematopoietic cell transplantation in a chinese population. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 17, 542 (Apr, 2011).
20.    X. F. Wang et al., The prevalence of factor VIII inhibitors and genetic aspects of inhibitor development in Chinese patients with haemophilia A. Haemophilia : the official journal of the World Federation of Hemophilia 16, 632 (Jul 1, 2010).
21.    H. Wang, J. Yue, M. Han, J. Yang, Y. Zhao, Rapid method for identification of six common species of mycobacteria based on multiplex SNP analysis. Journal of clinical microbiology 48, 247 (Jan, 2010).
22.    Y. Q. Shen, Y. B. Ye, X. W. Zheng, C. Li, Q. Chen, K-ras Mutations in the Plasma of Colorectal Cancer Patients. LabMedicine 41, 156 (2010).
23.    Y. Lian, J. Yue, M. Han, J. Liu, L. Liu, Analysis of the association between BTNL2 polymorphism and tuberculosis in Chinese Han population. Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 10, 517 (May, 2010).
24.    Y. P. Lei et al., VANGL2 mutations in human cranial neural-tube defects. The New England journal of medicine 362, 2232 (Jun 10, 2010).
25.    F. He et al., Association of TGF-beta1 gene polymorphisms in exon1 and blood levels with essential hypertension. Blood pressure 19, 225 (Aug, 2010).
26.  L. Zhang et al., Association study between C7673T polymorphism in apolipoprotein B gene and cerebral infarction with family history in a Chinese population. Neurology India 57, 584 (Sep-Oct, 2009).
27.  H. Yue, Z. L. Zhang, J. W. He, Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia. Bone 44, 547 (Apr, 2009).
28.  X. Wang et al., Haemophilia A in two unrelated females due to F8 gene inversions combined with skewed inactivation of X chromosome. Thrombosis and haemostasis 101, 775 (Apr, 2009).
29.  Y. H. Ke, H. Yue, J. W. He, Y. J. Liu, Z. L. Zhang, Early onset Paget's disease of bone caused by a novel mutation (78dup27) of the TNFRSF11A gene in a Chinese family. Acta pharmacologica Sinica 30, 1204 (Aug, 2009).
30.  J. M. Gu et al., Association between VDR and ESR1 gene polymorphisms with bone and obesity phenotypes in Chinese male nuclear families. Acta pharmacologica Sinica 30, 1634 (Dec, 2009).
31.  L. Zhang, Q. D. Yang, Y. Zeng, [Positive association of apolipoprotein B gene C7673T polymorphism with cerebral hemorrhage with family history]. Zhonghua yi xue yi chuan xue za zhi,  Chinese journal of medical genetics 25, 145 (Apr, 2008).
32.  H. Y. Xie et al., Polymorphisms in cytokine genes and their association with acute rejection and recurrence of hepatitis B in Chinese liver transplant recipients. Archives of medical research 39, 420 (May, 2008).
33.  L. M. Wu et al., MMP2 promoter polymorphism (C-1306T) and risk of recurrence in patients with hepatocellular carcinoma after transplantation. Clinical genetics 73, 273 (Mar, 2008).
34.  J. Jin et al., Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus. European journal of endocrinology / European Federation of Endocrine Societies 157, 783 (Dec, 2007).
35.  Z. Jiang et al., Recipient cytotoxic T lymphocyte antigen-4 +49 G/G genotype is associated with reduced incidence of hepatitis B virus recurrence after liver transplantation among Chinese patients. Liver international : official journal of the International Association for the Study of the Liver 27, 1202  (Nov, 2007).

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