1003-9406
2013 Issue 6
Mutation analysis of EXT genes in two pedigrees with hereditary multiple exostoses
DENG Lin-bei;,LIANG De-sheng;,LIN PENG Si-yuan;,LIU Jing;,QUAN Yi;,WU Ling-qian;
DENG Lin-bei;,LIANG De-sheng;,LIN PENG Si-yuan;,LIU Jing;,QUAN Yi;,WU Ling-qian;
..............page:641-644
Genetic diagnosis for a Chinese Han family with hereditary multiple osteochondromas
HUANG Xue-shuang;,JIANG Hai-ou;,LIU Jian-shu;,QUAN Qing-li;,SHEN Xiao-qing;
HUANG Xue-shuang;,JIANG Hai-ou;,LIU Jian-shu;,QUAN Qing-li;,SHEN Xiao-qing;
..............page:645-648
Clinical investigation and mutation analysis of a child with citrin deficiency complicated with purpura,convulsive seizures and methioninemia
CHEN Zhan-ling;,CUI Dong;,LI Cheng-rong;,LIU Xiao-hong;,SHANG Yue;,WANG Guo-bing;,WEN Peng-qiang;
CHEN Zhan-ling;,CUI Dong;,LI Cheng-rong;,LIU Xiao-hong;,SHANG Yue;,WANG Guo-bing;,WEN Peng-qiang;
..............page:649-653
46,xy,t(11;13)(q23;q34) yi li
cai fu qiang ;, ji xia ;, xie jin fang ;
cai fu qiang ;, ji xia ;, xie jin fang ;
..............page:653
Mutation analysis for a Chinese family featuring X-linked alpha thalassemia/mental retardation syndrome
CHEN Lu-ming;,CHEN Zheng;,DU Min-lian;,LIN Shao-bin;,SONG Xin-ming;,SUN Hong-yu;
CHEN Lu-ming;,CHEN Zheng;,DU Min-lian;,LIN Shao-bin;,SONG Xin-ming;,SUN Hong-yu;
..............page:654-658
Clinical and genetic analysis of a Chinese family affected with X-linked Charcot-Marie-Tooth disease
FENG Ya-pei;,LI Jiang-xia;,LI Lin;,LI Xiao;,LIU Qi-ji;,WANG Gui-long;
FENG Ya-pei;,LI Jiang-xia;,LI Lin;,LI Xiao;,LIU Qi-ji;,WANG Gui-long;
..............page:659-661
Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy
chen qian ;, chen zhi hong ;, gui juan ;, guo yu xiong ;, tang zhi hong ;, wang chun ;, di qiong xiang ;, zhang yu zuo ;, zhuo mu qing ;
chen qian ;, chen zhi hong ;, gui juan ;, guo yu xiong ;, tang zhi hong ;, wang chun ;, di qiong xiang ;, zhang yu zuo ;, zhuo mu qing ;
..............page:662-665
Unbalanced subtelomic rearrangement involving 9q and 22q in a child with mental retardation and multiple congenital anomalies
JI Xing;,NI Lin;,TAO Jiong;,XIAO Bing;,XING Ya;,XU Yan;,ZHU Yue;
JI Xing;,NI Lin;,TAO Jiong;,XIAO Bing;,XING Ya;,XU Yan;,ZHU Yue;
..............page:666-669
Carrier screening for spinal muscular atrophy in 4719 pregnant women in Shanghai region
chen jin ;, gong bo ;, hou ya ping ;, hu he yu ;, li hai chuan ;, tan mei yu ;, yu zuo ;, zhang li ;
chen jin ;, gong bo ;, hou ya ping ;, hu he yu ;, li hai chuan ;, tan mei yu ;, yu zuo ;, zhang li ;
..............page:670-672
In vitro expression study of novel mutations in phenylalanine hydroxylase gene
GU Xue-fan;,LIANG Li-li;,ZHANG Xin-shun;
GU Xue-fan;,LIANG Li-li;,ZHANG Xin-shun;
..............page:673-677
yran se ti azfc qu que shi yi jia xi liang li
li lin lin ;, liu zuo zhi ;, wang rui xue ;, yun zuo ;, zhu hai bo ;, zhu yu zhuo ;
li lin lin ;, liu zuo zhi ;, wang rui xue ;, yun zuo ;, zhu hai bo ;, zhu yu zhuo ;
..............page:677
Methylation pattern of imprinted genes H19 and IGF2r in spermatogenic cells cultured in vitro
JIANG Hong;,WANG Cun-li;,YUAN Wei-na;,ZHANG Wen-xiang;
JIANG Hong;,WANG Cun-li;,YUAN Wei-na;,ZHANG Wen-xiang;
..............page:678-682
MicroRNAs and polyglutamine diseases
JIANG Hong;,ZHANG Li;
JIANG Hong;,ZHANG Li;
..............page:683-686
Research on molecular markers for epigenetic changes in myeloid malignancies
LI Lin;,SUN Xue-mei;
LI Lin;,SUN Xue-mei;
..............page:687-692
46,xy,t(4;15) yi li
diao chun yan ;, lan xin qiang ;, wang jin xiu ;
diao chun yan ;, lan xin qiang ;, wang jin xiu ;
..............page:692
Association of RNASET2 gene polymorphisms and haplotypes with Graves disease in Han Chinese population from coastal regions of Shandong
HAN Lin;,JIA Zhao-tong;,SUN Ming-xia;,TONG Jing-jie;,WANG Bao-ping;,WANG Hai-li;,WANG Yan;
HAN Lin;,JIA Zhao-tong;,SUN Ming-xia;,TONG Jing-jie;,WANG Bao-ping;,WANG Hai-li;,WANG Yan;
..............page:693-696
A study of HLA-DPA1 and DPB1 matching status for unrelated donor-recipient pairs matched at allele level for HLA-A,-B,-C,-DRB1 and-DQB1 loci
DENG Zhi-hui;,GAO Su-qing;,HE Liu-mei;,JIN Shi-zheng;,WANG Da-ming;,ZHEN Jian-xin;,ZOU Hong-yan;
DENG Zhi-hui;,GAO Su-qing;,HE Liu-mei;,JIN Shi-zheng;,WANG Da-ming;,ZHEN Jian-xin;,ZOU Hong-yan;
..............page:697-700
46,xy,t(7;13)(q11.2;q14) yi li
wang kang ying ;, xu mei mei ;, zhuang hui long ;
wang kang ying ;, xu mei mei ;, zhuang hui long ;
..............page:700
Study on KIR gene polymorphisms in 416 renal transplantation recipients from southern Zhejiang
cai yong ;, chen bi cheng ;, chen xiao zuo ;, wu cun zao ;, wu zuo ;, xia peng ;, xie shuang shuang ;, yang yi rong ;, zhao wei jun ;
cai yong ;, chen bi cheng ;, chen xiao zuo ;, wu cun zao ;, wu zuo ;, xia peng ;, xie shuang shuang ;, yang yi rong ;, zhao wei jun ;
..............page:701-705
Association of single nucleotide polymorphism in M-type phospholipase A2 receptor gene with membranous nephropathy
LIU Feng;,ZHANG Wen-long;,ZHOU Guang-yu;
LIU Feng;,ZHANG Wen-long;,ZHOU Guang-yu;
..............page:706-710
46,xy,t(3;5)(q21;q13) ran se ti yi chang yi li
wen bai ping ;, yang xiao hong ;, zhang hong hong ;, zhuang yu ;
wen bai ping ;, yang xiao hong ;, zhang hong hong ;, zhuang yu ;
..............page:710
Association between matrix metalioproteinase-10 gene polymorphisms and instability of carotid plaque
chen qiao ling ;, hu xiao fei ;, huang mi wu ;, jin xiao ping ;, li wei ling ;, wang feng ;, wang wan fen ;, zhu feng ;, zhu min ;
chen qiao ling ;, hu xiao fei ;, huang mi wu ;, jin xiao ping ;, li wei ling ;, wang feng ;, wang wan fen ;, zhu feng ;, zhu min ;
..............page:711-715
Association study of PRDM16 gene polymorphisms with essential hypertension in Xinjiang Uygur population
BI Yun-wei;,LI Nan-fang;,WANG Hong-mei;,YAN Zhi-tao;,YAO Xiao-guang;,ZHOU Ling;,ZU Fei-ya;
BI Yun-wei;,LI Nan-fang;,WANG Hong-mei;,YAN Zhi-tao;,YAO Xiao-guang;,ZHOU Ling;,ZU Fei-ya;
..............page:716-720
46,x,+21 ban chu sheng que xian yi li
cui wei ;, li yan ;, tao hua juan ;
cui wei ;, li yan ;, tao hua juan ;
..............page:720
Detection of hemophilia A carrier by FⅧ:C/vWFAg ratio
AN Li;,CHENG Yan;,FANG Yun-hai;,LIU Jin-ling;,ZHANG Xin-sheng;
AN Li;,CHENG Yan;,FANG Yun-hai;,LIU Jin-ling;,ZHANG Xin-sheng;
..............page:721-723
Association of interleukin 10 gene-592C/A polymorphism with coronary artery disease
JIN Hu;,WANG Yan;,XU Li-xin;
JIN Hu;,WANG Yan;,XU Li-xin;
..............page:724-728
Association of CFTR gene polymorphism with congenital bilateral absence of vas deferens in ethnic Han Chinese patients
GU Xiu-li;,LI Hong-gang;,LIU Li-jun;,TANG Yan-ping;,XIONG Cheng-liang;,ZHAO Kai;,ZHU Ji-wang;
GU Xiu-li;,LI Hong-gang;,LIU Li-jun;,TANG Yan-ping;,XIONG Cheng-liang;,ZHAO Kai;,ZHU Ji-wang;
..............page:729-732
chan qian zhen duan 46,xy,18q+ ban duo fa ji xing yi li
li chuan hong ;, li fang ;, song xiu qin ;, wang xiao hua ;, yan zuo ;, zhao shan na ;
li chuan hong ;, li fang ;, song xiu qin ;, wang xiao hua ;, yan zuo ;, zhao shan na ;
..............page:732
Molecular genetic analysis of two individuals with Bw subtypes of ABO variant
LI Gui-ji;,ZHANG Xu;
LI Gui-ji;,ZHANG Xu;
..............page:733-735
Pedigree investigation and genetic analysis of a case with p blood group
LIU Yan-chun;,LIU Yi;,MA Ling;,SUN Jun;,WEI Peng;,WU Min-hui;,ZHENG Ling;
LIU Yan-chun;,LIU Yi;,MA Ling;,SUN Jun;,WEI Peng;,WU Min-hui;,ZHENG Ling;
..............page:736-738
Genetic polymorphisms of 10 short tandem repeat loci in Lhasa Tibetans in China
GUI Juan;,LIAO Qin-xiang;,SHANG Lei-peng;,YUAN Li;,ZHANG Lin;
GUI Juan;,LIAO Qin-xiang;,SHANG Lei-peng;,YUAN Li;,ZHANG Lin;
..............page:739-741
Identification of a rare allele FGA-13 in Guangdong Han population
CHEN Wei-hong;,LU Hui-ling;,ZHANG Ya-qing;
CHEN Wei-hong;,LU Hui-ling;,ZHANG Ya-qing;
..............page:742-744
46,xx,t(2;6)(q33;p22.2) yi li
li wen bo ;, zhang fang ;, zhang hai yan ;
li wen bo ;, zhang fang ;, zhang hai yan ;
..............page:744
d18s51 ji yin zuo jian chu san dai xing deng wei ji yin yi li
chen xing ;, li jin qi ;, liu kai ;, tang jian ;
chen xing ;, li jin qi ;, liu kai ;, tang jian ;
..............page:745-746
ran se ti ping heng yi wei yi jia xi liang li
lan xin qiang ;, niu lin zuo ;
lan xin qiang ;, niu lin zuo ;
..............page:746
mut ji yin tu bian zhi dan chun xing jia ji bing er suan niao zheng jia xi de tu bian fen xi ji chan qian zhen duan
kong xiang dong ;, liu ning ;, lu ning ;, shi hui rong ;, wu qing hua ;, xu xue ju ;, zhao zhen hua ;
kong xiang dong ;, liu ning ;, lu ning ;, shi hui rong ;, wu qing hua ;, xu xue ju ;, zhao zhen hua ;
..............page:747-749
bu tong yang shui pei yang shou huo fa dui jia xing qian he ti xing cheng de ying xiang
deng yu kui ;, wang yong qiang ;, xiao xiao su ;
deng yu kui ;, wang yong qiang ;, xiao xiao su ;
..............page:750-752
chan qian zhen duan 18 san ti qian he ti yi li
gao jia zuo ;, qiao lin ;, shen ying hua ;, zhao hui jia ;, zhao xin rong ;
gao jia zuo ;, qiao lin ;, shen ying hua ;, zhao hui jia ;, zhao xin rong ;
..............page:752
da gui mo ping xing ce xu fa chan qian jian ce tai er ran se ti fei zheng bei xing ji bian
cao jiang xia ;, hu xi jiang ;, li na ;, li yun xia ;, liu li ping ;, xu de yin ;, yang zuo ;, zhang bin ;, zhou rui ;
cao jiang xia ;, hu xi jiang ;, li na ;, li yun xia ;, liu li ping ;, xu de yin ;, yang zuo ;, zhang bin ;, zhou rui ;
..............page:753-754
he nan di qu 10730 fen yang shui xi bao ran se ti he xing fen xi
huang fei fei ;, liao er juan ;, liao shi xiu ;, wang li ;, yang yan li ;, zhang bing ;, zhang chao yang ;, zhao hui ru ;
huang fei fei ;, liao er juan ;, liao shi xiu ;, wang li ;, yang yan li ;, zhang bing ;, zhang chao yang ;, zhao hui ru ;
..............page:755-756
342 li chu sheng que xian huo zhi li sheng chang fa yu chi huan er tong de ran se ti he xing fen xi
han ying ;, hou xi qin ;, lin zuo ;, qiu hui guo ;, song xiu yu ;
han ying ;, hou xi qin ;, lin zuo ;, qiu hui guo ;, song xiu yu ;
..............page:757-758
fu yuan xing ping heng yi wei zhi 21 hao ran se ti bu fen dan ti he 18 hao ran se ti bu fen san ti yi li
qu lin lin ;, wang jun rong ;, wang shao min ;
qu lin lin ;, wang jun rong ;, wang shao min ;
..............page:758
yun zhong qi yang shui ran se ti jian cha shuang tai 23 dui
zuo duan ;, li xiao zhou ;, li yan ;, shi yun fang ;, zhang xiu ling ;, zhang ying ;
zuo duan ;, li xiao zhou ;, li yan ;, shi yun fang ;, zhang xiu ling ;, zhang ying ;
..............page:759-760
dandy-walker zong he zheng yi jia xi
chen hong qun ;, guo wen jie ;, liu fang ;, wang zhi ;, wen wei ;
chen hong qun ;, guo wen jie ;, liu fang ;, wang zhi ;, wen wei ;
..............page:761-762
liang xing fa zuo xing wei zhi xing xuan yun yi jia xi 11 li
fu xia ;, li yan ;, xu yan ming ;
fu xia ;, li yan ;, xu yan ming ;
..............page:763
ran se ti ping heng yi wei ban nan xing bu yu liu li
li lin ;, liu ying qin ;, zhang ji xia ;, zheng shu zuo ;
li lin ;, liu ying qin ;, zhang ji xia ;, zheng shu zuo ;
..............page:764-765
t(1;13)(q12;q12) he bing nan xing bu yu yi li
lan hai ying ;, liu fei yu ;, lv jun hua ;, song tao ;
lan hai ying ;, liu fei yu ;, lv jun hua ;, song tao ;
..............page:765
ran se ti yi chang he xing san li
huang bo ;, mou hai yan ;, zheng jian feng ;
huang bo ;, mou hai yan ;, zheng jian feng ;
..............page:766
ran se ti dao wei si li
huang chun bo ;, lin bin ;, pan li fang ;, shi qing rong ;, yuan han chao ;
huang chun bo ;, lin bin ;, pan li fang ;, shi qing rong ;, yuan han chao ;
..............page:767
ran se ti ping heng yi wei ban bu liang yun chan san li
li lin ;, zhang ji xia ;, zheng shu zuo ;, zhuang wen ping ;
li lin ;, zhang ji xia ;, zheng shu zuo ;, zhuang wen ping ;
..............page:768
..............page:后插1