Chinese Journal of Medical Genetics 2012 Issue 3 Application of next-generation sequencing technology for genetic diagnosis of Duchenne muscular dystrophy

Application of next-generation sequencing technology for genetic diagnosis of Duchenne muscular dystrophy
LIU Min-juan;XIE Min;MAO Jun;LI Hong;YAN Wen-hua;CHEN Ying

..............page:249-254

Association of sterol regulatory element binding protein-1c genetic polymorphisms rs2297508 and rs11868035 with type 2 diabetes meilitus in Gansu Han and Dongxiang population
LIU Ju-xiang;LIU Jing;GUO Qian;L1U Jia

..............page:328-333

xin xi dong tai

..............page:254,295,308,337,346,351,371-372,前插1

Full sequence analysis for a null allele of MICA gene (MICA * 063N)
HUANG Ying-feng;TAN Yin;YANG Shao-yu;LUO Hong-tu;ZOU Tai-chen

..............page:334-337

Development of a method for methylated DNA enrichment with functionalized mesocellular silica foams immobilized with methyl CpG binding domain
CHEN Ya-ting;HAN Lu;ZHAO Dong-yuan;TU Bo;MA Duan

..............page:284-288

Genome-wide association study with memory measures as a quantitative trait locus for schizophrenia
XIANG Bo;WU Jun-yao;MA Xiao-hong;WANG Ying-cheng;DENG Wei;CHEN Zhuang-fei;LI Ming-li;WANG Qiang;HE Zong-ling;JIANG Li-jun;LI Tao

..............page:255-259

Polymorphisms of FEM1A gene in patients with polycystic ovary syndrome
LIN Yuan;SUN Yan

..............page:338-342

Clinical and experimental study of a multiple myeloma case with low hypodiploidy
BAI Shu-xiao;PAN Jin-lan;XUE Yong-quan;CHEN Su-ning;WU Ya-fang;WANG Yong;ZHANG Jun;SHEN Juan

..............page:343-346

46,xy,t(8;19)(q22;q13) yi li
lan xin qiang ; zhao jin qiao

..............page:288

Possible role of GLI3 gene in the pathogenesis of idiopathic congenital talipes equinovarus
CAO Dong-hua;ZHANG Xuan;LIN Chang-kun;JIN Chun-lian

..............page:260-265

Asseciation of TNF-α gene polymorphisms with Graves disease susceptibility and early course thyroid stimulating hormone receptor antibody level in Chinese Han population in Anhui region
PAN Tian-rong;XING Shi-mei

..............page:347-351

Analysis of a 452C/T single nucleotide polymorphism in γ-glutamyl hydrolase gene in children with acute leukemia
ZHANG Hong-hong;YUE Li-jie;CHEN Xiao-wen;ZHAO Wei;HU Chun-yan;ZHENG Miao-miao;YANG Chun-lan;XIE Cai

..............page:352-355

Rapid detection of SOX2 gene by primed in situ labeling
LUO Xi;DING Xian-ping;CHEN Lin;QUAN Qiang

..............page:289-292

ying yang bu liang xing da zuo xing biao pi song jie zheng yi jia xi jiu li
xiao hua zhi

..............page:265

Clinical and cytogenetic analyses of 45 adult natients with acute Iymphoblastie leukemia
CEN Ling;ZHOU Min;CHEN Tao;XIAO Rong;YANG Jian-he;JIANG Nai-ke;ZHANG Yan;LU Xu-zhang

..............page:356-359

Mitochondrial genetics and human essential hypertension
CHEN Hong;GUAN Min-xin

..............page:293-295

Analysis of de novo copy number variations in a family affected with autism spectrum disorders using highresolution array-based comparative genomic hybridization
HE Wen-zhi;LIU Wei-qiang;ZHONG Xin-qi;CHEN Xiao-lin;LI Shao-ying;ZHANG Hui-min;LI Qing;CUI Qi-liang;SUN Xiao-fang

..............page:266-269

46,x,t(x 8) ban yuan fa xing bi jing yi li
wang kang ying ; tu hai jian ; lin hua

..............page:359

Analysis of allelic drop-out at short tandem repeat loci
CHEN Wen-jing;LI Yue;WU Xiao-jie;ZHANG Yin-ming;LIU Su-juan;CHEN Yong;CHEN Wei-hong;SUN Hong-yu

..............page:360-363

Effect of glucosylceramide synthase on P-gp expression by ERK signal transduction pathway in leukemia multidrug resistance cell line
LI Yu-ling;XIE Ke-ming;ZHANG Yang-yang;MU Hui-jun;ZHANG Bin;ZOU Jian;XIE Ping

..............page:270-274

Progress in molecular diagnosis of fragile X syndrome
GUO Xiao-yan;LIAO Juan;LAN Feng-hua

..............page:296-299

yi chuan xing dui cheng xing se su yi chang zheng yi jia xi 12 li
liu xiang ; li xi ying ; deng wei ping

..............page:299

36 li tai er ran se ti xiang hu yi wei biao xing xiao ying de tan tao
lin shao bin ; fang qun ; xie ying jun ; wu jian zhu ; chen zheng ; chen bao jiang

..............page:364-366

Abnormalities of meiotic recombination in Han Chinese azoospermic patients
HE Xiao-jin;YANG Qing-ling;PAN Zhen-zhen;WU Huan;WANG Liu;SHI Qing-hua;ZHAO Ji-hua;CAO Yun-xia

..............page:275-279

Association between polymorphisms of insulin-like growth factor receptor gene and susceptibility to non-small-cell lung cancer in Fujian Chinese
LI Hong-ru;CHEN Yu-sheng;SHAO Hui;HAN Li-li;ZHANG Xiang-e

..............page:300-305

yun fu xue qing biao ji wu tang shi zong he zheng shai cha fa xian shuang tai jun wei 21- san ti zong he zheng yi li
cui zuo ; song xue ru ; yao jing zuo ; shi yun fang ; xie xiao zuo ; yue sheng ; li xiao zhou ; li yan ; zhang ying ; zhang xiu ling ; wang mei jie ; xin li

..............page:366

shi wang mo se su bian xing yi jia xi ba li
xin xiu lan

..............page:279

48,xyyy/47,xyy/46,xy/45,x he xing yi li
lv wei ; wang zhen ; zhang hai ping ; gao liang liang

..............page:305

235 li tai er ran se ti yi chang he xing fen xi
mao zuo zuo ; lu li ping ; chen tie feng ; wang zhen yu ; zhang li chao ; xu ling ling

..............page:367-369

Comparison of allelic frequencies of 15 slhort tandem repeat loci between chronic myeloid leukemia patients and non-related healthy individuals
WANG Zhi-lin;DAI Li;LI Sang;QIU Guo-qiang;WU Hao-qing

..............page:306-308

15 hao huan zhuang ran se ti zong he zheng yi li
jiang rui feng

..............page:369

Mutation analysis of keratin 9 gene in a family with epidermolytic palmoplantar keratoderma
LI Yan-li;Li Na-na;WANG Yan-ping;LI Ming-rong;DAI Li;DENG Ying;LIU Zhen;MU De-zhi;ZHU Jun

..............page:280-283

Association of MMP14 gene polymorphisms and osteoporosis in Zhuang men from Baise region of Gnangxi
ZHOU Qing-hui;HUANG Xiu-feng;WANG Jin-hua;LIN Chao-wen;YANG Yuan-yuan;HUANG Chang-sheng;WU Lian-tao;WU Yu-mei

..............page:309-313

xin jiang di qu 84 li yuan fa xing bi jing huan zhe de xi bao yi chuan xue fen xi
xia yan ; han ning ning ; cao ling ; duan ling

..............page:370-371

Second trimester screening for trisomy 21 using ADAM12-S as a maternal serum marker
JIANG Tao;LV Ling;YANG Bing;SUN Yi-jun;ZHANG Xiao-juan;SUN Yun;XU Qian-jun;XU Zheng-feng

..............page:314-318

ran se ti zheng bi ping heng yi wei liang jia xi si li
li lin ; wu shu zhan

..............page:372

bai xue bing ran se ti fu za yi wei si li
wen li juan ; liu li ming ; meng zhao yan ; liu zuo

..............page:373

yi chang qian he ti er li
song jie ; han yan long ; wang chun tao ; bo xiao bo

..............page:318

Association between estrogen receptor beta gene polymorphisms in Chinese Uygur patients and intrahepatic cholestasis of pregnancy
YIN Yan;LI Fang;WANG Dong-mei

..............page:319-322

46,xx,t(7;18)(q21.2;p11.3) ban liu chan yi li
ou ming lin ; gong wei wei ; chen jie jing ; zuo wei guo

..............page:322

Development of a high-throughput sequence-based typing assay for human leukocyte antigen loci HLA-DPA1 and HLA-DPB1
YU Qiong;WANG Da-ming;DENG Zhi-hui

..............page:323-327

46,xx,t(1;9) ban bi jing yi li
feng ji zhen ; wang ya fan ; wei shu yan ; li li xin

..............page:327