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血泪断肠魂孤咽,耳界尤闻野狐禅

东征战鼓催仁贵,长白图门何时归?

 
 
 

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18路军武汉办事处、晋察冀、鲁艺大、西北战地、华北联大、朝鲜义勇军、第8军、百团大战、第129师、润河战役、淮海战役、十八军、西南局、50军、中央特派员。

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遗传与基因组医学  

2016-03-03 07:39:02|  分类: 专利 |  标签: |举报 |字号 订阅

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遗传与基因组医学 - 阿提拉 - 杨门报国精忠迹,建业日下滕王序。

 .

http://www.ncbi.nlm.nih.gov/sites/GeneTests/?db=GeneTests

 

    http://www.humanvariomeproject.org/

 

    http://www.china-hvp.org/introduction/introduction.htm

 

  Ning, L., A. Moss, W. Zareba, J. Robinson, S. Rosero, D. Ryan, M.. Qi (2003) Novel compound heterozygous mutations in the KvLQT1 gene associated with autosomal recessive Long QT syndrome (Jervell Lange-Nielsen syndrome). (A.N.E.

 

8:246-250. Dr. Ning is a postdoctoral trainee in my lab

 

通讯作者)

 

5. Ning, L.; A. Moss, W. Zareba, J. Robinson, S. Rosero, D. Ryan, M. Qi (2003) Denaturing high-performance liquid chromatography reliably detects ion channel mutations in Long QT syndrome. (Genetic Testing, 7:249-253. Dr. Ning is

 

a postdoctoral trainee in my lab通讯作者)

 

6.  W. Zareba, A. Moss, L. Ning, J. Robinson, E. Kaufman, C. Ohle, J. Towbin, P. Schwartz, M.Keating, Qi, M. , J. Robinson? (2003). Location of mutation in the KCNQ1 AND PHENOTYPIC PRESENTATION OF Long QT Syndrome. (J. Cardiovasc. Eletrophysiol, 14: 1149-53国际合作子课题负责人)

 

7.  AJ Moss, JR. Windle, WJHall, W Zareba, JL Robinson, SMcNitt,

 

P Severski, S Rosero, James P. Daubert, M Qi, M Cieciorka, and A S. Manalan, (2005) A.N.E. ;10(4)Supplement:5966.

 

8. Yu, P, Y. Gu, Y. Yang, J. Si, M. Qi, L. Guo (2006) Clinical Evaluation and Molecular Analysis of Chinese Patients with Lattice Corneal Dystrophies and a Novel Thr538Pro Mutation in the TGFBI Gene. Journal of Genetics 85(1):73-76.

 

9HUANG T, M. QI (2005) Report ? 21st century medical genetic and genomic medicine in China. J Zhejiang Univ SCIENCE B 2005 6(12):1223-10MOTULSKY A, M. QI (2006) Pharmacogenetics and ecogenetics.

 

J Zhejiang Univ SCIENCE B 2006 72):169-170 通讯作者

 

11Moss AJ, Shimizu W, Wilde AA, Towbin JA, Zareba W, Robinson JL, Qi M, Vincent GM, Ackerman MJ, Kaufman ES, Hofman N, Seth R, Kamakura S, Miyamoto Y, Goldenberg I, Andrews ML, McNitt S.Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 2007 May 15;115(19):2481-9. 国际合作子课题负责人

 

12Jenny B. Hobbs, Derick R. Peterson, Arthur J. Moss, Scott McNitt, Wojciech Zareba, Ilan Goldenberg, Ming Qi, Jennifer L. Robinson, Andrew J. Sauer, Michael J. Ackerman, Jesaia Benhorin, Elizabeth S. Kaufman, Emanuela H. Locati, Carlo Napolitano, Silvia G. Priori, Jeffrey A. Towbin, G. Michael Vincent, Li Zhang, (2006) RISK OF ABORTED CARDIAC ARREST OR SUDDEN CARDIAC DEATH DURING ADOLESCENCE IN THE LONG-QT SYNDROME JAMA2006;296:1249-1254 国际合作子课题负责人

 

13. Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, and Griggs RC for the CINCH investigators 2006: The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain 2006 129: 8-17. 国际合作子课题 14Godenberg I, Arthur J. Moss, Scott McNitt, Wojciech Zareba , Scott McNitt, Jennifer L. Robinson, Ming Qi, Jeffrey A. Towbin, Michael J. Ackerman, and Laura Murphy (2007), Clinical Course and Risk Stratification of Patients Affected with the Jervell and Lange-Nielsen Syndrome. J Cardiovasc Electrophysiol, 17: 1161-1168. 国际合作子课 题负责人

 

15.  Sauer AJ, Moss AJ, McNitt S, Peterson DR, Zareba W, Robinson JL, Qi M,Goldenberg I, Hobbs JB, Ackerman MJ, Benhorin J, Hall WJ, Kaufman ES, Locati EH, Napolitano C, Priori SG, Schwartz PJ, Towbin JA, Vincent GM, Zhang L. 2007Long QT syndrome in adults. J Am Coll Cardiol. 23;49(3):329-37

 

国际合作子课题负责人

 

16. Seth R, Moss AJ, McNitt S, Zareba W, Andrews ML, Qi M, Robinson JL, Goldenberg I, Ackerman MJ, Benhorin J, Kaufman ES, Locati EH, Napolitano C, Priori SG, Schwartz PJ, Towbin JA, Vincent GM, Zhang L. 2007 Long QT syndrome and pregnancy. J Am Coll Cardiol. 49(10):1092-8. 国际合作 子课题负责人

 

17.  Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW

 

and the CINCH investigators ( 2007),  The primary episodic

 

ataxias: diagnosis, pathogenesis, and treatment.  Brain,

 

 

 

130(10):2484-2493. 国际合作子课题负责人

 

18. Moss AJ, Shimizu W, Wilde AA, Towbin JA, Zareba W, Robinson JL, Qi M, Vincent GM, Ackerman MJ, Kaufman ES, Hofman N, Seth R, Kamakura S, Miyamoto Y, Goldenberg I, Andrews ML, McNitt S. (2007) Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation. 115(19):2481-9.

国际合作子课题负责人

 

19. Yu Zhang, Bingxi Chang, Songnian Hu, Duenmei Wang, Quan Fang, Xianyong Huang, Qiang Zeng, Ming Qi, (2008) Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia. A.N.E. 13(2):180190.

 

讯作者

 

20.  Goldenberg I, Moss AJ, Peterson DR, McNitt S, Zareba W, Andrews ML, Robinson JL, Locati EH, Ackerman MJ, Benhorin J, Kaufman ES, Napolitano C, Priori SG, Qi M, Schwartz PJ, Towbin JA, Vincent GM, Zhang L. (2008) Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome. Circulation. 117(17):2184-91. 国际合作子课题负责人

 

21.  Goldenberg I, Moss AJ, Bradley J, Polonsky S, Peterson DR,

 

 

McNitt S, Zareba W, Andrews ML, Robinson JL, Ackerman MJ, Benhorin J, Kaufman ES, Locati EH, Napolitano C, Priori SG, Qi M, Schwartz PJ, Towbin JA, Vincent GM, Zhang L.(2008) Long-QT syndrome after age 40. Circulation. 117(17):2192-201. 国际合作子课题负责人

 

22. PING YU, YANGSHUN GU, FAN JIN, RONGRONG HU, LILI CHEN, XIAOYI YAN, YUEHONG YANG, and MING QI (2008). Ala546Asp and Arg555Trp Mutations of TGFBI Gene and Their Clinical Manifestations in Two Large Chinese Families with Granular Corneal Dystrophy Type I. Genetic Testing, 12(3): 421-425

通讯作者

 

23.  WANG Jian-yong, Yang-shun GU, Jing WANG, Yi TONG, Ying WANG, Jun-bing SHAO , Ming QI (2008). MGB Probe Assay for Rapid Detection of MtDNA11778 mutation in the Chinese LHON Patients by Real-Time PCR. Journal of Zhejiang University SCIENCE B, 9:610-615.

 

24.     Sze E, Moss AJ, Goldenberg I, McNitt S, Jons C, Zareba W, Qi M, Robinson JL; International Long QT Syndrome Investigative Group. Long QT syndrome in patients over 40 years of age: increased risk for LQTS-related cardiac events in patients with coronary disease. Ann NoninvasiveElectrocardiol. 2008 Oct;13(4):327-31. 国际合作子课题负 责人

 

 

 

25.Thottathil P, Acharya J, Moss AJ, Jons C, McNitt S, Goldenberg I, Zareba W, Kaufman E, Qi M, Robinson JL; International Long QT Syndrome Investigative Group. Risk of cardiac events in patients with asthma and long-QT syndrome treated with beta(2) agonists. Am J Cardiol. 2008 Oct 1;102(7):871-4. Epub 2008 Jul 17. 国际合作子课题负责人

 

 

 

26. Spazzolini C, Mullally J, Moss AJ, Schwartz PJ, McNitt S, Ouellet G, Fugate T, Goldenberg I, Jons C, Zareba W, Robinson JL, Ackerman MJ, Benhorin J, Crotti L, Kaufman ES, Locati EH, Qi M, Napolitano C, Priori SG, Towbin JA, Vincent GM. Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy. J Am Coll Cardiol. 2009 Aug 25;54(9):832-7 国际合作子课题负责人

 

 

 

27.Wu G, Ai T, Kim JJ, Mohapatra B, Xi Y, Li Z, Abbasi S, Purevjav E, Samani K, Ackerman MJ, Qi M, Moss AJ, Shimizu W, Towbin JA, Cheng J, Vatta M. alpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruption.

 

 

 

 

 

 

 

Circ Arrhythm Electrophysiol. 2008 Aug;1(3):193-201.

 

际合作子课题负责人

 

 

 

28.  Jons C, Moss AJ, Lopes CM, McNitt S, Zareba W, Goldenberg I, Qi M, Wilde AA, Shimizu W, Kanters JK, Towbin JA, Ackerman MJ, Robinson JL. Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome. J Cardiovasc Electrophysiol. 2009 Aug;20(8):859-65. 国际合作子课题负责人

 

 

 

29.  Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B,

Bernstein IT, Bhak J, Bleoo SL, Bl?cker H, Brenner SE, Burn

 

J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Díaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott

D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, M?slein

 

G, Netea MG, Norton ML, Oefner PJ, Oetting WS, O'Leary JC,

 

 

 

de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ,

Tanaka T, Tavtigian SV, Taylor GR, Teague J, T?pel T,

 

Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS; Contributors to the Human Variome Project Planning Meeting. Planning the human variome project: the Spain report. Hum Mutat. 2009 Apr;30(4):496-510. (国际合作唯一中国代表

 

IF=7)

 

 

 

30.  Richard G. H. Cotton, Aida I. Al Aqeel, Fahd Al-Mulla, Paola Carrera, Mireille Claustres, Rosemary Ekong, Valentine J. Hyland, Finlay A. Macrae, Makia J. Marafi e, Mark H. Paalman, George P. Patrinos, MingQi, Rajkumar S. Ramesar, MSc, Rodney J. Scott, Rolf H. Sijmons, María-Jesu ?s Sobrido, Mauno Vihinen; and members of the Human Variome Project Data Collection from Clinics, Data Collection from Laboratories and Publication, Credit and Incentives Working Groups. Genet Med 2009:11(12):843849. (国际合作唯一中国代表)

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