Chinese Journal of Medical Genetics 2008 Issue 6 Analysis of the GNB3 gene 825C/T polymorphism in non-obese and obese Chinese

Analysis of the GNB3 gene 825C/T polymorphism in non-obese and obese Chinese
WANG Xiao-su;BAI Huai;FAN Ping;LIU Rui;LIU Yu;LIU Bing-wen

..............page:670-674

The mitochondrial DNA mutation in spinocerebellar ataxia type 3
WANG Jin;LUO Man;YUAN Zhi-gang;YANG Xiao;LI Gui-bing

..............page:667-669

Study on the gene polymorphism of Auberger antigens in Chinese population
ZENG Jian-qiang;DENG Zhi-hui;YANG Bao-cheng;JIANG Xiang-yue;SU Yu-qing;LU Liang;YU Qiong

..............page:663-666

Recent advances in molecular genetics of spinocerebellar ataxia type 3/Machado-Joseph disease
JIA Dan-dan;JIANG Hong;TANG Bei-sha

..............page:660-662

Advance of the study on LRRK2 gene in Parkinson's disease
ZHANG Yu;CHEN Sheng-di

..............page:657-659

Association of matrix metalioproteinase-3 serum level and the promoter 5A/6A polymorphism of the MMP-3 gene with atherosderotic cerebral infarction
HUANG Xiao-ya;ZHU Min;JIN Xiao-ping;ZHANG Dan-hong;WANG Lin-zhi;YE Zu-sen

..............page:653-656

A novel COL4A5 splicing mutation causing Alport syndrome in a Chinese family
TANG Zhao-hui;DAI Yong;WAN Zhi-hui;ZHAN Tai-lan;TAN Jin-wang;REN Xiang;LIU Jing-yu;WANG Qing;LIU Mu-gen

..............page:649-652

Study on the single-nucleotide substitution (c.-16C＞T)of the PURATROPHIN-1 gene on Chinese patients with spinocerebellar ataxia
ZHOU Ya-fang;SONG Xing-wang;YI Ji-ping;JIANG Hong;WANG Jun-ling;LIAO Shu-sheng;TANG Bei-sha

..............page:646-648

Cloning of deletion junctions: a method of PCR for detecting the deletional pseudohypertrophic muscular dystrophy carriers
ZHONG Min;PAN Su-yue;LU Bing-xun;LI Wei

..............page:642-645

Mutation analysis of the CHD7 gene in patients with congenital heart disease
QI Qiu-feng;YI Long;YANG Chi;CHEN Hui-mei;SHEN Li;MO Xu-ming;HU Ya-li;WANG Ya-ping

..............page:637-641

Association of polymorphism of the prostaclin synthase gene with myocardial infarction in Uigur population of Xinjiang
XIE Xiang;MA Yi-tong;FU Zhen-yan;YANG Yi-ning;WANG Ying-hong;CHEN Bang-dang;LIU Fen

..............page:708-711

86 li nan xing bu yu huan zhe de xi bao yi chuan xue fen xi
ren hong jin ; zhang yong ; he sheng yan ; hu yu ; wu yong

..............page:729

46,xx,t(14;15)(q22;q26) yi li
tan qiong zhen ; tao wan lin ; dong yuan gang

..............page:730

zhen fa xing yun dong you fa xing wu dao shou zu xu dong zheng yi jia xi
huang qi kun ; zhao min

..............page:628

jia xing jia zhuang pang xian gong neng jian tui zheng yi li
yao jia zuo ; ren yue zhong

..............page:689

jia zu xing fahr bing yi jia xi jiu li
dai xiao hua ; cui xiao zuo ; xu hai bo ; liu mu gen ; wang qing ; liu jing yu ; ren xiang

..............page:722

jia zu xing yi chuan xing gu ruan gu liu yi jia xi 21 li
liu jing ; zhong fei ; li yan ; zhu li ming ; shi jun ; hu wei xin

..............page:723

xlian suo yin xing yi chuan xing yu lin bing yi jia xi
li ming ; yang li jia ; dai xun yi

..............page:725

yi pa jin sen yang biao xian wei zhu de duo xi tong wei suo yi jia xi liang li
xie en ping ; xu ping rong ; yang mi ; liao ling ; xi jing ; xu yan ming

..............page:728

gan yin shen jing xing long yi jia xi 10 li
li ji hong ; xu guo gang ; song xiao qing ; wei hui ping ; yang zhi dong ; wang yan zuo

..............page:730

Identification of a novel KCNH2 mutation in a family with congenital long QT syndrome and prediction of the secondary structure of its encoding protein
YANG Hai-tao;SUN Chao-feng;LI Hong-bing;ZHANG Ai-feng;XUE Xiao-lin;WANG Dong-qi;SHU Juan;CUI Chang-cong

..............page:704-707

Detection of the SRY gene by primed in situ labeling
NIE Yong;DING Xian-ping;DENG Li;WEI Ping;WANG Huan

..............page:701-703

Association of single nucleotide polymorphisms of Axis inhl'bitor-2 gene rs224030,rs8081536,rs9913621 with Hirschsprung disease
GAO Hong;ZHANG Juan;WANG Wei-lin;ZHANG Zhi-bo;HUANG Ying;ZHANG Shu-cheng

..............page:697-700

Association of the polymorphisms in NURR1 gene with Parkinson 's disease
WU Yan;PENG Rong;CHEN Wen-jun;ZHANG Jin-hong;LI Tao;WANG Ying-cheng;GU Ying-ru;YUAN Guang-gu

..............page:693-696

Identification of a rare allele of FGA-13
ZHAO Ying;ZHONG Lu;FU Sheng-miao

..............page:690-692

Association of single nucleotide polymorphism rg599839 on chromosome 1p13.3 with premature coronary heart disease in a Chinese Han population
HUANG Hao;PAN Ling-ai;ZHANG Li;CHEN Yu-cheng;ZENG Zhi

..............page:686-689

Analysis of sperm chromosomal abnormalities and sperm DNA fragmentation in infertile males
QIU Yi;WANG Lei-guang;ZHANG Li-hong;YANG Dan-tong;ZHANG Ai-dong;YU Jian-chun

..............page:681-685

The molecular genetics basis for ABw07/phenotype of ABO subtype
ZHU Hang;WU Ya-ling;LI Xiao-tao;HONG Xiao-zhen;XU Xian-guo;ZHU Fa-ming

..............page:678-680

Treatment of 2 children with mucopolysaccharidosis by allogeneic hematopoietic stem cell transplantation
CHEN Jing;JIANG Hua;DONG Lu;WANG Yao-ping;LUO Chang-ying;ZHOU Min;ZHANG Wei-Ming;HUANG Shang-zhi;GU Xue-fan;QIU Wen-juan;ZHANG Hui-wen;GU Long-jun

..............page:675-677

9hao ran se ti bi jian dao wei liang li
zhang feng qin ; wang sheng he

..............page:648

46,xx,inv(20)(p13q13) ban xi guan xing liu chan yi li
he jun ; wang wei hong ; li hong yu ; liu mu jun ; li ai lin

..............page:645

si li xing xian fa yu yi chang ban ran se ti yi chang de he xing fen xi
wang rui zuo ; ma hong ying ; zhang xiao ping ; lin mei na ; huang hui shan

..............page:641

ran se ti ping heng yi wei liang li
wang zhi hong ; tu xiang dong ; dong li hong ; zhang bao zhen

..............page:615

jia zu xing xian tian xing shan hu zhuang bai nei zhang huan zhe ji yin tu bian shai cha
zhou ai yi ; ren bai chao ; li zuo

..............page:718-719

Analysis of the genetic polymorphisms of 15 autosomal short tandem repeat in a Han population of Shandong
TANG Jian-pin;ZHANG Jian;HU Bo;JIANG Feng-hui;YU Xiao-jun

..............page:715-717

Simultaneous presence of ins (15;17),t(2;17;20) and trisomy 8 ha a patient with acute promyelocytic leukemia*
BAI Shu-xiao;XUE Yong-quan;WU Ya-fang;PAN Jin-lan;ZHANG Jun;SHEN Juan;WANG Yong;QIU Hui-ying

..............page:712-714

87 li bing can er tong xi bao yi chuan xue fen xi
yang cong bin ; chen min

..............page:652

ran se ti t(11;12) yi jia xi liang li
chu wei ; gao jian ; wang fang na ; yu xiao ping ; guo wen chao

..............page:692

46,xy,t(1;13) ban nan xing bu yu yi li
song gui ning ; zhang ; liang mei ying

..............page:703

xin sheng er mao jiao zong he zheng yi li
zhou min ; zuo ling ; xiao rong ; li ying wei

..............page:707

ran se ti yi chang yi jia xi liang li
xie jin fang ; gang chun ling ; ji xia ; wang lan yu

..............page:717

ying yong ying guang yuan wei za jiao ji shu jian ce xiao biao ji ran se ti huan er
ye zhi chun ; zhu xing yuan ; zhao rui ; yan hua ; li li ping ; zhu yi min

..............page:720-721

46,xy,t(4;12)(q21;q11)mat tai er yi li
ma guang juan ; liu ning ; li zhi guang ; kong ying

..............page:721

lin yi di qu 316 li xing ran se ti yi chang he xing fen xi
li lin ; li jian hua

..............page:724-725

707 li ran se ti yi chang xi bao yi chuan xue fen xi
wang ming quan ; zhuang jian liang ; xu rong yu ; gao jing jing ; lin li ping ; zheng ya xin

..............page:726

jin 10 nian shao xing di qu sheng yu yi chang zhe de xi bao yi chuan xue fen xi
zeng yan ; xu ping ; fan jia ming ; qian lei ; zhang li fang

..............page:727

Mutation screening of the dystrophin gene in 14 Chinese Duchenne/Becker muscular dystrophy patients without gross ddetions
XUE Jin-jie;ZHU Hag-yan;WU Ling-qian;HANG De-sheng;PAN Qian;LONG Zhi-gao;DAI He-ping;XIA Kun;XIA Jia-hui

..............page:633-636

The construction and preliminary inavestigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis
WU Lei;WU Wei-ping;YAN Guang-tao;WANG Xiao-hui;LIU Jie-xiao

..............page:629-632

Construction of recombinant plasmid pVAX1-microdystrophin and preliminary study on the treatment to Duchenne nmscular dystrophy
XIONG Fu;ZHANG Cheng;ZHENG Hui;XIAO Shao-ho;YU Mei-juan;XU Yong-feng;LIU Zheng-shan;ZHOU Chang

..............page:624-628

Study of the 482G/A variation in PGC-1α gone domain MEF2C as possible mechanism of type 2 diabetes
LU Wen-sheng;YAN Xiao-dong;HUANG Qin;HU Ying-yu;ZHONG Mei;HUANG Zhong;CHEN Hui;CHENG Hua

..............page:616-623

Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus
SUN Hui-hui;ZHANG Yue-hua;HU Xiao-yan;MA Xiu-wei;WU Hu-sheng;XU Ke-ming;QI Yu;WU Xi-ru

..............page:611-615