Chinese Journal of Medical Genetics 2009 Issue 2 Mutation analysis of the SCNIA gene in severe myoclonic epilepsy of infancy

Mutation analysis of the SCNIA gene in severe myoclonic epilepsy of infancy
SUN Hui-hui;ZHANG Yue-hua;LIU Xiao-yan;MA Xiu-wei;WU Hu-sheng;XU Ke-mingg;QIN Jiong ;QI Yu ;WU Xi-ru

..............page:121-127

Prenatal genetic study of fetuses with congenital heart diseases
XU Zheng-feng;CAO Li ;JI Xiu-qing;YANG Chi;ZHANG Jing-jing;XU Qian-jun;ZHA Wen;YANG Yin-qiu;LIN Yuan-shan;CHEN Chun-hua;LIU An;LI Li;LIN Ying;YI Long

..............page:128-133

Genetic analysis of genitourinary malformations
ZHANG Jing-shu;FU Yu;ZHAO Yan-hui;LI Fei;QIAN Ai-li;WU Bin;LI Ling Jesse

..............page:134-138

Mutation analysis of SMN gene in a patient and his family with spinal muscular atrophy
ZENG Jian;LIN Yan-hong;YAN Ai-zhen;CAI Mei-ying;KE Long-fang;LAN Feng-hua

..............page:139-143

GJB2 gene mutation in deaf patients
XU Zhi-yong;GAO Guo-feng;LIU Chang;HU Yu-hua;LIN Yi;ZHANG Ruan-zhang;LIU Ming;WANG Sha-yan

..............page:144-146

Identification of acute lymphoctic leukemia extramedullary relapse and PTLD after allo-HSCT by monitoring sex chromosome chimeric status with FISH
DU Xuan;LIU Qi-fa;ZHANG Le-shi;SONG Lan-lin;FAN Zhi-ping;XU Bing ;SUN Jing

..............page:147-150

Preliminary study on the alternative splicing pattern of human telomerase reverse transcriptase gene during gastric carcinogenesis
WANG Yu-chuan;XU Jin-heng;GENG Xin ;ZHANG Wei-ming

..............page:151-155

ran se ti yi chang he xing 59 li ji qi lin chuang fen xi
tian pei ling ; zheng li xin ; ye jia ling ; yang wei ; wang bai xian ; li ming zhen ; zhang qing jian ; xu shan shan ; zhou bing gu ; cai hui na ; fang jun yu

..............page:237-238

46,xy,-18,+idic(18)(p11 qter) tai er ji xing yi li
zhang yan liang ; dai yong ; tu zhi guang ; li qi yun ; zeng jun ; lin xiu hua ; zhang li ; liu shi long

..............page:239

lin yi di qu 26 li luo bo xun yi wei xie dai zhe de xi bao yi chuan xue fen xi
li lin ; wang jin zhu

..............page:240

emery-dreifus xing ji ying yang bu liang yi li
liao zuo ; zhao di ; zhao fan

..............page:143

tong xing jing luan yi jia xi
zeng xiang ling ; he xiang hua ; xi jing ; zeng yan ; xu yan ming

..............page:190

ma de long ji xing yi li
zhu hai yan ; wu xing

..............page:215

211 li yi chang he xing zhe de xi bao yi chuan xue fen xi
xie jin fang ; ji xia ; gang chun ling

..............page:222

t(6;13)(q13;q32) ping heng yi wei yi jia xi liang li
yu xiao yan ; huang ying hao ; wang shao min ; xiong jin ling ; wen zuo li

..............page:218

ping heng yi wei xie dai zhe sheng yu 9 hao ran se ti bu fen san ti er yi li
wang rui zuo ; zhang xiao ping ; ma hong ying ; huang hui shan ; lin mei na

..............page:206

ti wai shou jing - pei tai yi zhi shu hou yun tang shi zong he zheng yi li
yang xiao hui ; li yan ; zhang xiu ling ; shi yun fang ; zhang ying

..............page:182

46,xx,t(4;15;20) xie dai zhe ban liu chan 4 ci yun 46,xx yi li
luo yu qin ; zhu rui jian ; chen yu lan ; ren yu zuo

..............page:178

chan qian zhen duan 69,xxx san bei ti yi li
zhang xue mei ; wang he ; chen xin lian ; liu shan ling ; xia zuo ; xie liang yu ; lai zuo ; qin li ; liu zhi ying

..............page:174

610 li sheng zhi yi chang zhe de ran se ti he xing fen xi
liu xiu zhong ; wang jian guo

..............page:169

han jian ran se ti yi chang yi li
zhou yu chun ; wang hua ; huang ding mei

..............page:164

tong yuan ran se ti 15 hao luo shi yi wei ban zi ran liu chan yi li
liu fang ; shi cai hong

..............page:160

46,xy,t(2;3) ban zi ran liu chan yi li
guan li xue ; li hai bo ; gao li ; liu zhi cui

..............page:155

ran se ti he xing yi chang yi jia xi
wang yuan bai ; shi li jing ; huang bao jia

..............page:133

chan qian zhen duan zhong qian he ti de fa xian yu chu li
xu ping ; zeng yan ; fan jia wu

..............page:236

ying guang yuan wei za jiao he ran se ti tu ran ji shu zai g dai he xing fen xi bu ming bing li zhong de ying yong
ou jian ; chen zuo ; zhang jun ; wang zuo ; zhong hong ling ; wang li juan ; wang ting ; duan cheng ying ; fu wen zi ; li hong

..............page:233-235

Analysis on haplotypes of five HLA loci in southern Chinese Han population by sequence-based typing
GAO Su-qing;ZOU Hong-yan;CHENG Liang-hong;JING Shi-zheng;DENG Zhi-hui

..............page:228-232

Study on genetic polymorphisms of 13 SNP loci in Guangxi Zhuang population of China
WANG Rui-heng;YU Wei-jian;LIU Li-min;ZHAO Jin-ling

..............page:223-227

Association of the hepatic lipase gene-250G/A promoter polymorphism with the susceptibility to type 2 diabetes mellitus combining with coronary heart disease
WEI Ming;LU Yong-shen;LI Pan-pan

..............page:219-222

A recombination event occurring between HLA-B and DRB1 loci within a Chinese Han family
LIU Na;SHAN Xiao-yan;LI Wei;WANG Li-jun;HE Xiao-mei;WANG Dong-mei;NI Lei;CUI Shuang;WANG Lin;GONG Zhi-yin;ZHAO Bo-tao;ZHANG Zhi-xin

..............page:216-218

Association of the integrin gene polymorphisms with ischemic stroke and plasma lipid levels
WEI Ye-sheng;LAN Yan ;LIU Yun-guang;MENG Lan-qing;XU Qun-qing;XIE Hai-yuan

..............page:211-215

The application of fluorescence in situ hybridization in detecting chronic myeioid leukemia
QIU Hai-rong;MIAO Kou-rong;WANG Rong;QIAO Chun;ZHANG Jian-fu;ZHANG Su-jiang;QIAN Si-xuan;XU Wei;LI Jian-yong

..............page:207-210

Fluorescence in situ hybridization studies on a myeloid leukemia patient with ins (8;21) (q22;q22.1q22.3)
WU Ya-fang;XUE Yong-quan;BAI Shu-xiao;ZHANG Jun;YAO Li;WANG Yong;QIU Hui-ying;SHEN Juan;PAN Jin-lan;MA Qin-fen

..............page:203-206

Genetic analysis of a complex chromosome rearrangement involving two chromosomes and four breakpoints in an azoospermic man
LUO Yu-qin;SHEN Min ;QIAN Yu-li;CHEN Yu-lan;XU Chen-ming;JIN Fan

..............page:200-202

Immunoglobulin variable heavy chain region genetic constitution and mutation states in Chinese patients with chronic lymphocytic leukemia
ZHANG Ya-ping;CHEN Li-juan;XUWei ;QIAO Chun;QIAN Si-xuan;QIU Hong-xia;MIAO Kou-rong;LIU Hong;LI Jian-yong

..............page:196-199

Prevalence and clinical characteristics of the mitochondriai tRNALeu(UUR) gene 3243 A to G mutation in familial diabetes mellitus in Chinese population
WANG Sui-jun;WU Song-hua;ZHENG Tai-shan;WANG Ling ;LU Hui-juan;XIANG Kun-san

..............page:191-195

The clinical and genetic studies in a family of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
ZHANG Li-fang;YANG Xiao-su;WANG Yu-fen;PEI Lan-tian

..............page:187-190

Mutational analysis of patients with 6-pyravoyltetrahydrobiopterin synthesis deficiency
GU Mei-qing;YE Jun;QIU Wen-juan;HAN Lian-shu;ZHANG Ya-feng;GU Xue-fan

..............page:183-186

TGFBI gene mutations in three Chinese families with autosomal dominant corneal dystrophy
WANG Li-ming;WANG Yu-chuan;QIU De-lai;YING Ming;LI Ning-dong

..............page:179-182

Advances in the studies of the dysbindin gene in schizophrenia
ZHAO Gao-feng;DENG Hong;YANG Yan-chun;CHEN Ying

..............page:175-178

Antiglioma activity of endothelial progenitor cells transduced with HSV-TK via inhibiting angiogenesls in vitro and in vivo
ZHANGJun-xia;ZHAO Peng;LI Rui;SHI Lei;CHENG Zi-hao;YOU Yong-ping;FU Zhen

..............page:170-174

Association of single nucieotide polymorphisms in VEGF gene with the risk of endometriosis and adenomyosis
LIU Qing;LI Yan ;ZHAO Jian ;ZHOU Rong-miao;WANG Na ;SUN Dong-lan;DUAN Yan-an;KANG Shan

..............page:165-169

Genetic determination of fast plasma glucose concentration and correlation with anthropometric indices
JIAN Wei-xia;SU Qing;LUO Min

..............page:161-164

The application and significance in prenatal diagnosis using G-banding, fluorescence in situ hybridization and comparative genomic hybridization
ZHANG Wei-she;CHEN Qi-neng;WU Xin-hua;LIANG Qing-hua

..............page:156-160