Chinese Journal of Medical Genetics 2008 Issue 1 333 li gao ling yun fu yang shui qi xue ran se ti jian cha chan qian zhen duan fen xi

333 li gao ling yun fu yang shui qi xue ran se ti jian cha chan qian zhen duan fen xi
xu ping ; zeng yan ; fan jia ming ; qian lei ; yu xin zhong

..............page:122

45,x/46,x,idic(x) liang li
liu ci ; yin gui ran ; liu xue jun ; tan feng qin

..............page:123

ni man - pi ke shi bing yi li
wan zuo ; deng yu ping

..............page:10

fu er ji xing yi jia xi
ma han ; lu chun ; zhu guo xing ; feng pei ying ; lai wei

..............page:14

xin sheng er xing di lin suan zuo mei zheng yi li
wu jin lin ; chen juan ; qiu li ; chen yong xiu ; gong xiao zuo

..............page:44

ban t(4;11) de ji xing dan he xi bao xing bai xue bing yi li
mao li ping ; xu gai xiang ; chen zhi mei ; yang xiu zuo ; jin jie

..............page:121

ran se ti he xing mos46,xx/46,xy,-14,+rob(13,14),yqh- yi li
liu yan hui ; gao juan ; li li fen ; chen jun long

..............page:120

nan xing ran se ti yi chang he xing liu li
tu xiang dong ; zhang bao zhen

..............page:119

135 li duo fa xing gu sui liu xi bao yi chuan xue fen xi
chen li juan ; li jian yong ; chou hai rong ; wang rong ; pan jin lan ; qian si xuan ; xue yong quan

..............page:117-118

ran se ti yi chang he xing ba li
li lin

..............page:115-116

yun fu xue qing biao ji wu tang shi zong he zheng shai cha fa xian chang ran se ti qian he ti liang li
wang de hua ; li yan ; zhang xiu ling ; shi yun fang ; zhang ying

..............page:114

25 li x ran se ti yi chang he xing fen xi
lv jun hua ; liu fei yu ; hu ya qiong

..............page:95

zhang zhi zuo zhi wan zheng zeng jia de duo zhi ( zhi ) zheng ban 21 san ti zong he zheng yi li
li lu xia ; li feng ; fu jian hua ; fu zuo zuo

..............page:92

9hao huan zhuang ran se ti ban 9- san ti zong he zheng yi li
liu zhi feng ; zhang li zuo

..............page:85

97 li 21 hao ran se ti bing de yi chuan xue fen xi
liu fei yu ; lv jun hua ; li hui hua ; lan hai ying

..............page:77

yi wei xing 21 san ti huan er yi li
li xiu jun ; tong ying

..............page:72

yran se ti wu jing zi zheng yin zi c qu yu que shi yi li
yao zuo xin ; zhang li jun ; lu zhen yu

..............page:69

46,x,t(x;5;6)(p11.2;q35;q16) yi li
zhao xiao ; luo yan ; feng zuo

..............page:65

23 li turner zong he zheng de xi bao yi chuan xue fen xi
si bao min ; zhang wei hong ; wang ya ping ; ye jun jie

..............page:49

he xing 45,x/46,xy de turner zong he zheng huan zhe de fa bing ji li
xiao xiao su ; wang yong qiang ; lu li hua ; liu xiao yi ; he rong

..............page:112-114

lian he ying yong pcr- dan lian gou xiang duo tai xing he duan chuan lian zhong fu xu lie lian suo fen xi fang fa jin xing 20 li ben bing tong niao zheng chan qian ji yin zhen duan
jin zuo zuo ; li sha sha ; wang hong ; song

..............page:110-111

zhong guo ren zhi guan jie zhan lian jia xi zhong de zhi bing ji yin de ding wei ji tu bian yan jiu
xiao fu ying ; wang xu ; jiang lin bin ; wei ri ming ; wu qun ying ; jiang jiu xi ; xiang qiu ; liu jian xiang ; jiang chuan ming ; huang guang ling

..............page:105-109

Linkage disequilibrium analysis of-1516,-574 and 4259 single nudeotide polymorphisms in TIM-3 gene
CHEN Zhi-zhong;WANG Lin;LI Hong;CUI Tian-pen;LI Yi-rong;HU Li-hua

..............page:101-104

Genetic analysis of Mulao nationality using 15 short tandem repeats
XU Lin;DENG Qiong-ying;LI Song-feng;ZHOU Li-ning;GONG Ji-chun;WEI Bo-yuan

..............page:96-100

Detection of 3q27 chromosomal abnormality in diffuse large B cell lymphoma using FISH on cell microarray
JIANG Hui-yong;LI Hui-ling;ZHAO Tong

..............page:73-77

Inhibition of bFGF gene expression and tumor angiogenesis of orthotopic implantation of human gsstric carcinoma by N-desulfated heparin
CHEN Ming-xiang;CHEN Jin-lian;LU Jin-lai;HONG Jing;CHEN Wei-xiong;ZHU Jin-shui;CHEN Ni-wei;GENG Jian-guo

..............page:78-81

Coding sequence point mutation and polymorphism analyses of SIP1 gene in Hirschsprung disease
GAO Hong;LI Xin-fang;ZHANG Zhi-bo;WANG Wei-lin;HUANG Ying

..............page:82-85

Detection of Y chromosome microdeletion in AZF region by liquid chip technology
LIU Si-yao;DING Xian-ping;WEI Xia;WEI Ping;PAN Hai-rong

..............page:86-88

Genetic variation of 9 X-linked short tandem repeat loci among four populations of Inner Mongolian
LI Xiao-zhong;TONG Mu-er;OU La;ZHANG Ran;RONG Liao-jiang;HOU Qiao-fang;YU Bin;LI Sheng-bin

..............page:89-92

Genetic polymorphism of the PRODH and 5-HT2A receptor gene in Korean-Chinese and Han nationality in Chinese Yanbian area
JIANG Wan-kui;XU Qing-song;PIAO Yong-quan

..............page:93-95

jia zu xing zhi fang liu yi jia xi qi li
chen shui ping ; wang xiu fen ; shao jiang hua

..............page:54

shuang tai zhi yi wolf-hirschhorn zong he zheng yi li
zhu hai yan ; wu xing

..............page:62

xian tian xing bai nei zhang yi jia xi
zhang ling

..............page:100

leber shi shen jing wei suo yi jia xi
xin xiu lan

..............page:109

duo fa xing zhi nang liu yi jia xi jiu li
long fu quan ; han ke ; yang xian xu ; su jian ying

..............page:116

yi chuan xing ji sui xiao nao gong ji shi diao 2 xing yi jia xi qi li
yuan qiang ; xi jing ; xu ping rong ; yuan guang gu ; xu yan ming

..............page:123

yi chuan xing yu lin bing ban bai fa yi jia xi
wang lai ; geng hui xia ; zhao hong bing ; he wei jie

..............page:124

The influence of mitochondrial haplogroup on Leber's hereditary optic neuropathy
MAO Yi-jian;QU Jia;GUAN Min-xin

..............page:45-49

Chromosomal localization of foreign genes in transgenic mice using dual-color fluorescence in situ hybridization
LIN Dan;GONG Xiu-li;LI Wei;GUO Xin-bing;ZHU Yi-wen;HUANG Ying

..............page:40-44

Alteration of methylation status of fragile histidine triad gene promoter in patients with myelodysplastic syndrome
YAO Dong-ming;QIAN Jun;XU Wen-rong;LIN Jiang;JIANG Yun-wei;FEI Xia;HAN ian-xiu;WANG Ya-li;CEN Jian-nong;CHEN Zi-xing

..............page:36-39

Evaluating the applicability of MoM in second trimester maternal serum to screening for Down's syndrome in Jiangsu province
XU Bi-yun;HU Ya-li;ZHANG Chun-yan;ZHANG Jian-wei;LIU Qi-lan;YUE Hui;RU Tong;XU Zheng-feng;ZHU Rui-fang;ZHANG Ying;ZHONG Xiao-ling;WU Qing-mei

..............page:32-35

The construction of lentivirus-mediated RNAi vector containing hTERT
ZHAO Peng;FU Zheng;YOU Yong-ping;WANG Cun-zu;CHENG Yun-xiang;LU Xiao-ming;LU Ai-lin;LIU Ning

..............page:27-31

Examining the comorbidity of attention deficit and hyperactivity disorder and conduct disorder in a population based twin sample
HUANG Yi;CAO Xin;ZHANG Xiao-wei;XIANG Yun;FU Yi-xiao;MENG Hua-qing;MA Xiao-hong;WANG Ying-cheng;SUN Xue-li;LIU Xie-he;LI Tao

..............page:23-26

Study on the association of-689C/T polymorphism in the PPARγ2 promoter with myocardial infarction
Li Jian-ping;CHENG Long-xian;HE Mei-an;WU Tang-chun

..............page:19-22

Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda
ZHOU Wan-jun;ZHOU Shi-yuan;HUANG Sheng-wen;ZHOU Ji-ping;XU Xiang-min

..............page:15-18

The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus
LI Ning-dong;CUI Li-hong;WANG Li-ming;MA Hui-zhi;ZHANG Li-ling;YUE Yi-ying;ZHAO Kan-xing

..............page:11-14

A novel missense mutation in MIP gene resulted in polymorphic cataract
LIN Hui;WANG Li;ZHOU Nan;SU Hong;GU Jing-zhi;QI Yan-hua

..............page:6-10

In vitro expression and structural analysis of four missense mutations (G247S,E280G,P362T, A434D) of phenylalanie hydroxylase gene
SONG Fang;Qu Yu-jin;Yoshiyuki Okano;YE Zhi-qiang;ZHANG Yu-min;JIN Yu-wei;WANG Hong

..............page:1-5

Analysis of β2-adrenergic receptor gene(β2AR)Argl6Gly polymorphism in patients with endogenous hypertriglyceridemia in Chinese population
WU Hong-mei;BAI Huai;FAN Ping;HU Rui;LIU Yu;HU Bing-wen

..............page:50-54

Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family
CHENG Xiao-huan;ZHENG Fang;ZHOU Xin;XIONG Chen-ling;DING Jun-fa;CHEN Yong-mei

..............page:55-58

A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract
LIN Ying;LIU Ni-ni;LEI Chun-tao;FAN Ying-chuan;LIU Xiao-qi;YANG Yang;WANG Jun-fang;LIU Bing;YANG Zheng-lin

..............page:59-62

Mutation detection of ATP2C1 gene in Chinese patients with Hailey-Hailey disease
Li Xiao-li;PENG Zhen-hui;XIAO Sheng-xiang;LIU Yan;PAN Min;ZHOU Shao-na

..............page:63-65

Comparison between genotyping and serological phenotyping in RhCE blood group
ZHOU Hua-you;ZHANG Yin-ze;MENG Qing-bao;BAI Xu-hua;WANG Cong-rong;CAO Qiong;LAN Jiong-cai

..............page:66-69

Association between CYP1A1 gene polymorphism and intrahepatic cholestasis of pregnancy
WANG Xiao-li;ZHANG Li;OU Rong-qing;WANG Jing;LIU Shu-yun;CHEN Qiang;SU Pin-can

..............page:70-72