1003-9406
2014 Issue 3
Potential role of CRELD1 gene in the pathogenesis of atrioventricular septal defect
Guo Ying;,Shen Jie;,Li Fen;,Wang Jian;,Wang Xike;,Guo Aihua;,Sun Kun;
Guo Ying;,Shen Jie;,Li Fen;,Wang Jian;,Wang Xike;,Guo Aihua;,Sun Kun;
..............page:263-267
Genetic analysis of ASS1 ,ASL and SLC25A13 in citrullinemia patients
wen peng qiang ;, chen zhan ling ;, wang guo bing ;, liu xiao hong ;, chen li ;, chen shu li ;, wan li sheng ;, cui dong ;, shang yue ;
wen peng qiang ;, chen zhan ling ;, wang guo bing ;, liu xiao hong ;, chen li ;, chen shu li ;, wan li sheng ;, cui dong ;, shang yue ;
..............page:268-271
Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome
Huang Yanru;,Mei Libin;,Su Wei;,Yang Pu;,Liang Desheng;,Wu Lingqian;,Pan Qian;
Huang Yanru;,Mei Libin;,Su Wei;,Yang Pu;,Liang Desheng;,Wu Lingqian;,Pan Qian;
..............page:272-275
Identification of a pathogenic microduplication in a Chinese split hand/foot malformation family
Liu Yaping;,Huang Yingzhi;,Yang Wei;,Zhang Xue;
Liu Yaping;,Huang Yingzhi;,Yang Wei;,Zhang Xue;
..............page:276-279
Genetic analysis and prenatal diagnose of two Chinese families with split hand-foot malformation
Wang Hui;,Xie Jiansheng;,Chen Wubin;,Geng Qian;,Xu Xiaoxin;
Wang Hui;,Xie Jiansheng;,Chen Wubin;,Geng Qian;,Xu Xiaoxin;
..............page:280-284
Genetic analysis for a family with Cockayne syndrome
Chen Liyuan;,Yu Shanshan;,Wu Weiqing;,Geng Qian;,Luo Fuwei;,Xie Jiansheng;
Chen Liyuan;,Yu Shanshan;,Wu Weiqing;,Geng Qian;,Luo Fuwei;,Xie Jiansheng;
..............page:285-288
Analysis of CYP21A2 gene mutation in two families with 21-hydroxylase deficiency
zheng rui zhi ;, zhao zhi gang ;, wang yan fang ;, yuan hui juan ;, wang sui jun ;, su yong ;, ma yue hua ;, hu zi zuo ;, tian zuo ;
zheng rui zhi ;, zhao zhi gang ;, wang yan fang ;, yuan hui juan ;, wang sui jun ;, su yong ;, ma yue hua ;, hu zi zuo ;, tian zuo ;
..............page:289-293
ran se ti ping heng yi wei yi jia xi liang li
liu chang mei ;, li lin ;, zheng shu zuo ;, zhang ji xia ;
liu chang mei ;, li lin ;, zheng shu zuo ;, zhang ji xia ;
..............page:293
Mutation analysis of STK11 gene in a Chinese family with Peutz-Jeghers syndrome
Zhao Xiaoyan;,Huang Yijin;,Yang Bingchun;,Zhao Yan;
Zhao Xiaoyan;,Huang Yijin;,Yang Bingchun;,Zhao Yan;
..............page:294-297
46,xy,t(9;10)(q13;q22) he bing pei tai ting yu yi li
wang kang ying ;, li li jun ;, xu mei mei ;, lin hua ;
wang kang ying ;, li li jun ;, xu mei mei ;, lin hua ;
..............page:297
Study of mutations of presenilin 1 gene in early onset familial Alzheimer's disease
Cao Lili;,Qiu Xiaoxue;,Zheng Jinfan;,Lin Pengfei;,Wang Shuzhen;
Cao Lili;,Qiu Xiaoxue;,Zheng Jinfan;,Lin Pengfei;,Wang Shuzhen;
..............page:298-301
46,xx,t(5;19) (p12;p12) yi li
gu min ;, qin ling zhen ;, wang qing ;
gu min ;, qin ling zhen ;, wang qing ;
..............page:301
Array comparative genomic hybridization analysis of early-stage arrested human embryos
Yue Chaomin;,Fang Cong;,Li Lilin;,Wang Xiang;,Zhang Minfang;
Yue Chaomin;,Fang Cong;,Li Lilin;,Wang Xiang;,Zhang Minfang;
..............page:302-306
Relationship between Line-1 methylation and clinical data of non-small cell lung cancer
Liu Xinneng;,Jin Yongtang;,Xu Peiwei;,Chen Chunmei;,Tan Cong;
Liu Xinneng;,Jin Yongtang;,Xu Peiwei;,Chen Chunmei;,Tan Cong;
..............page:307-311
Effect of PARP-1 inhibitor PJ-34 on multi-drug resistance in human multiple myeloma cell line and its relationship with FA/BRCA pathway
Xiong Ting;,Wei Heng;,Chen Xiaoqiong;,Xiao Hui;
Xiong Ting;,Wei Heng;,Chen Xiaoqiong;,Xiao Hui;
..............page:312-316
Expression of peroxisome proliferators-activated receptor α in glioma and its effect on the growth of human glioma cells
shi yan ;, zuo wen kang ;, tao tao ;, wang jia jia ;, qian jin ;, dong qing sheng ;, liu ning ;, you yong ping ;
shi yan ;, zuo wen kang ;, tao tao ;, wang jia jia ;, qian jin ;, dong qing sheng ;, liu ning ;, you yong ping ;
..............page:317-321
Identification of a NF-κB responsive element within the dimethylarginine dimethylaminohydrolase 2 gene promoter
Li Yinghui;,Li Jiaqi;,Sun Lu;,Chu Guoming;,Zhao Yanyan;
Li Yinghui;,Li Jiaqi;,Sun Lu;,Chu Guoming;,Zhao Yanyan;
..............page:322-326
liang jia xi lian xu ren shen wan quan xing 21 san ti huan er
zeng yan ;, fan jia ming ;, xu ping ;, qian lei ;, he qiong xia ;
zeng yan ;, fan jia ming ;, xu ping ;, qian lei ;, he qiong xia ;
..............page:326
Advances in research based on twins reared apart
Gao Wenjing;,Li Liming;
Gao Wenjing;,Li Liming;
..............page:327-329
Recent advances of study on hereditary diffuse leukoencephalopathy with spheroids
Cheng Xinxin;,Xu Jun;
Cheng Xinxin;,Xu Jun;
..............page:330-333
ran se ti ping heng yi wei ban bi jian dao wei yi li
qi ying ;, liu zu lin ;, wan xue ;, yu li mei ;, wan wei hong ;
qi ying ;, liu zu lin ;, wan xue ;, yu li mei ;, wan wei hong ;
..............page:333
Advance in studies on dopamine system related genetic polymorphisms associated with nicotine dependence
Wang Chao;,Qian Wei;,Zhang Minming;
Wang Chao;,Qian Wei;,Zhang Minming;
..............page:334-337
Genetic diagnosis of Duchenne/Becker muscular dystrophy by MLPA
Zhang Yuanyuan;,Liu Xiaoliang;,He Rong;,Ma Hongwei;,Zhao Yanyan;
Zhang Yuanyuan;,Liu Xiaoliang;,He Rong;,Ma Hongwei;,Zhao Yanyan;
..............page:338-343
46,xy,t(10;13)(q11.2;q12) ban bu yu yi li
wang xiao xu ;
wang xiao xu ;
..............page:343
Screening and analysis of a new mutation of COL1A1 gene in a family with osteogenesis imperfecta
bai xue ;, li ke qiu ;, ren xiu zhi ;, he xiao bo ;, wang yi ;, guan shi zhen ;, jing ya qing ;, li guang ;
bai xue ;, li ke qiu ;, ren xiu zhi ;, he xiao bo ;, wang yi ;, guan shi zhen ;, jing ya qing ;, li guang ;
..............page:344-347
zhi ( zhi ) gu jian guan jie zhan lian yi jia xi
huang ying hao ;, huang ying jie ;, liu fei ;, jiang zhu hui ;, yu xiao yan ;
huang ying hao ;, huang ying jie ;, liu fei ;, jiang zhu hui ;, yu xiao yan ;
..............page:347
Multiple endocrine neoplasia type 2A caused by a p.C618R RET proto-oncogene mutation in a Chinese pedigree
chen zhen guang ;, qi xiao ping ;, fei jun ;, yu xiu hua ;, zhao yan ;, zhao jian qiang ;, jin hang yang ;, wang jin quan ;, ying rong biao ;
chen zhen guang ;, qi xiao ping ;, fei jun ;, yu xiu hua ;, zhao yan ;, zhao jian qiang ;, jin hang yang ;, wang jin quan ;, ying rong biao ;
..............page:348-351
Screening of variation in the promoter of PPARGC1A gene and study of its association with the risk of type 2 diabetes in ethnic Hans from Beijing
sun liang ;, wang song zuo ;, qu yan chun ;, sun hong ;, wang xiao xia ;, shi xiao hong ;, zhu xiao quan ;, tang lei ;, yang ze ;
sun liang ;, wang song zuo ;, qu yan chun ;, sun hong ;, wang xiao xia ;, shi xiao hong ;, zhu xiao quan ;, tang lei ;, yang ze ;
..............page:352-356
Association study of LIS1 and TSNAX genes with biploar disoader in Chinese Han population
li ;, guan li jie ;, lin zuo ;, zhang xiao fei ;, deng wen zuo ;, yang zhen xing ;, ma xiao hong ;, lao zuo hui ;, ye bi zuo ;
li ;, guan li jie ;, lin zuo ;, zhang xiao fei ;, deng wen zuo ;, yang zhen xing ;, ma xiao hong ;, lao zuo hui ;, ye bi zuo ;
..............page:357-361
Association of programmed cell death 1 gene polymorphisms with dilated cardiomyopathy in Chinese Han population
Yang Hao;,Peng Ying;,Li Yajiao;,Fu Kai;,Xie Qiu;,Zhou Bin;,Rao Li;
Yang Hao;,Peng Ying;,Li Yajiao;,Fu Kai;,Xie Qiu;,Zhou Bin;,Rao Li;
..............page:362-366
ran se ti ping heng yi wei si li
shi qing rong ;, yuan han chao ;, wei gui bei ;
shi qing rong ;, yuan han chao ;, wei gui bei ;
..............page:366
Impact of six genetic polymorphisms on Warfarin maintenance dose variation in Chinese Han population
lou ying ;, han zuo zuo ;, li yan ;, zhang xiao xing ;, liu zhi hong ;, tang min ;, yu hai wen ;, wang wei ;, xu jian ping ;
lou ying ;, han zuo zuo ;, li yan ;, zhang xiao xing ;, liu zhi hong ;, tang min ;, yu hai wen ;, wang wei ;, xu jian ping ;
..............page:367-371
Characterization of muscular involvement in patients with Duchenne muscular dystrophy by magnetic resonance imaging
Chen Wei;,Feng Shanwei;,Feng Huiyu;,Zhang Cheng;
Chen Wei;,Feng Shanwei;,Feng Huiyu;,Zhang Cheng;
..............page:372-375
Value of second-time invasive prenatal diagnosis in the current circumstances
Wu Yi;,Wang Yanlin;,Cheng Weiwei;,Yu Jingbo;,Liu Chunmin;
Wu Yi;,Wang Yanlin;,Cheng Weiwei;,Yu Jingbo;,Liu Chunmin;
..............page:376-379
Predictive value of HLA-DRB1 gene for the treatment of unexplained recurrent spontaneous abortion with paternal lymphocyte alloimmunization therapy in Henan Hans
yang ke ;, zhang bing ;, liao shi xiu ;, he zuo ;, chu yan ;, li qian cheng ;, guo qian zuo ;, hou qiao fang ;, ding xue bing ;
yang ke ;, zhang bing ;, liao shi xiu ;, he zuo ;, chu yan ;, li qian cheng ;, guo qian zuo ;, hou qiao fang ;, ding xue bing ;
..............page:380-382
Development of a method for the separation of HLA-A,-B and-C haploid using biotinylated probe and streptavidin magnetic beads
Tao Sudan;,He Yanming;,Zhang Wei;,Wang Wei;,He Ji;,Zhu Faming;,Lyu Hangjun;
Tao Sudan;,He Yanming;,Zhang Wei;,Wang Wei;,He Ji;,Zhu Faming;,Lyu Hangjun;
..............page:383-387
Study of genetic polymorphisms of 12 short tandem repeats on X chromosome in ethnic Han population from Hebei Province
xu jie ;, lei liang ;, xu ning ;, fu guang ping ;, xu zhi zuo ;, wang yuan ;, li shu zuo ;, cong bin ;
xu jie ;, lei liang ;, xu ning ;, fu guang ping ;, xu zhi zuo ;, wang yuan ;, li shu zuo ;, cong bin ;
..............page:388-392
3912 fen tai er yang shui xi bao ran se ti he xing fen xi
qian fei yan ;, xu ping ;, zeng yan ;, fan jia ming ;, zhang li fang ;
qian fei yan ;, xu ping ;, zeng yan ;, fan jia ming ;, zhang li fang ;
..............page:393-394
1264 fen tai er ran se ti fen xi ji 2 li xin he xing bao gao
ou shan ;, tang bin ;, chen shao ke ;, du juan ;, meng da hua ;, liu tian sheng ;, zheng chen guang ;
ou shan ;, tang bin ;, chen shao ke ;, du juan ;, meng da hua ;, liu tian sheng ;, zheng chen guang ;
..............page:395-396
da gui mo bing xing ce xu ji shu yong yu tai er ran se ti fei zheng bei ti jian ce ji yang shui he xing fen xi de tan tao
wang chao hong ;, sun yu xiu ;, wang ya qun ;, tong ke zuo ;, cheng dao ping ;, zhu jian sheng ;, shen ji long ;
wang chao hong ;, sun yu xiu ;, wang ya qun ;, tong ke zuo ;, cheng dao ping ;, zhu jian sheng ;, shen ji long ;
..............page:397-399
47,xx,t(x;17)(q26;p13) ban yuan fa bi jing yi li
li chao zuo ;, zuo juan ;, liu jie ;, zhu zuo ;, zhang lei ;
li chao zuo ;, zuo juan ;, liu jie ;, zhu zuo ;, zhang lei ;
..............page:399
illumina ce xu ji shu zai mu xue jian ce tai er fei zheng bei ti zhong de ying yong
yu lei ;, yang guo zhen ;, cheng ming liang ;, cheng shu qiang ;, sun chao qin ;, jian dan ;, wang li ping ;
yu lei ;, yang guo zhen ;, cheng ming liang ;, cheng shu qiang ;, sun chao qin ;, jian dan ;, wang li ping ;
..............page:400-401
mian jian zuo xing ji ying yang bu liang liang jia xi 12 li
an ran ;, xu yan ming ;
an ran ;, xu yan ming ;
..............page:402-403
gu ban dian zheng yi jia xi wu li
zhou ya ping ;
zhou ya ping ;
..............page:404-405
ran se ti he xing yi chang er li
chen yun chun ;, lin li ying ;, zheng chun jiao ;, cao xiao qiang ;, xu yu ni ;
chen yun chun ;, lin li ying ;, zheng chun jiao ;, cao xiao qiang ;, xu yu ni ;
..............page:405
han jian nuo li bing jia xi ji yin zhen duan yi li
mei li bin ;, huang yan ru ;, pan qian ;, zuo ling qian ;
mei li bin ;, huang yan ru ;, pan qian ;, zuo ling qian ;
..............page:406-407
han jian 6 hao ran se ti zhuo si li qu duo tai yi jia xi er li
wang zuo ;, wang yan ;
wang zuo ;, wang yan ;
..............page:407
liang xing ji xing he bing niao dao xia lie 3 li
lu li ;, li juan ;, chai xiao jing ;, zhang zhi bo ;, zhang ping ;, zhao li ;
lu li ;, li juan ;, chai xiao jing ;, zhang zhi bo ;, zhang ping ;, zhao li ;
..............page:408-409
9hao ran se ti duan bi yi wei zhi 21 hao ran se ti ban wu jing zheng huan zhe yi li
zhang feng qin ;, ding hong zuo ;, gao zhi hong ;, hou su ping ;
zhang feng qin ;, ding hong zuo ;, gao zhi hong ;, hou su ping ;
..............page:409
han jian he xing 46,xx,inv(9) 2/47,xx,inv(9) 2,+inv(9) yi li
xiang ping xia ;, leng pei ;, liu zuo ;, xiao di ;
xiang ping xia ;, leng pei ;, liu zuo ;, xiao di ;
..............page:410
chan qian zhen duan yi zhen beckwith-wiedemann zong he zheng yi li
wang jun feng ;, guo cai qin ;, liu jun ;, tang ye ;, wu jin bao ;
wang jun feng ;, guo cai qin ;, liu jun ;, tang ye ;, wu jin bao ;
..............page:411
qian he ban yi wei xing turner zong he zheng yi li
zhang li ping ;, li lin ;
zhang li ping ;, li lin ;
..............page:412
46,xy,inv(7) (p22q34) yi li
zou peng shu ;, mou kai ;, zhang jin yan ;, cao dong hua ;
zou peng shu ;, mou kai ;, zhang jin yan ;, cao dong hua ;
..............page:413
yi li 45,x/46,x,i(yq)/46,x,idic(y) (p11) ban wu jing zheng huan zhe de xi bao ji fen zi yi chuan xue fen xi
yue fa gui ;, jiang yu zuo ;, yu yang ;, li de jun ;, li lin lin ;, liu zuo zhi ;
yue fa gui ;, jiang yu zuo ;, yu yang ;, li de jun ;, li lin lin ;, liu zuo zhi ;
..............page:414
..............page:前插1