Chinese Journal of Medical Genetics 2004 Issue 1 45,x,inv(9)/46,x,del(x)(q21),inv(9) qian he ti yi li

45,x,inv(9)/46,x,del(x)(q21),inv(9) qian he ti yi li
cai yong lin ; zheng yu ming ; li shao wen ; tang min zhong ; li jun

..............page:46

inv(1)(p13q12) ban fu bi que ru yi li
lu xiao yan ; ma rui zhi ; jiang li xia

..............page:42

46,xx,t(5;7)(q35;q32)inv(9)(p11q13) ran se ti yi chang yi li
lin qi ; cheng jin quan ; zeng yong ; hu xiao dong ; cai jing

..............page:31

t(1;19) yi jia xi liang li
gao shu hong ; nie bing ; du shu ju

..............page:28

t(8;21) ban chi fa xing ji xing sui xi bao bai xue bing yi li
wang zuo ; xie xin ; gu zhong hua ; li xiao zuo ; zhu hua chun

..............page:18

ran se ti zheng bi yi wei ban xi guan xing liu chan yi li
xiao xiao su ; liu xiao yi ; zhang yin han ; wang yong qiang ; cai zhi ming

..............page:9

zhi ru qian zhen duan luo bo xun yi wei yi li
xu chen ming ; ye ying hui ; qian yu li ; zhu yi min ; huang he feng

..............page:94-95

59 li shi gu zheng de lin chuang ji x xian biao xian fen xi
wang cheng lin ; li wen ge ; wu zheng guang ; dong han bin ; lu pu xuan ; gong xiao long

..............page:92-93

fan yi duan li mei rna yi zhi e xing jiao zhi liu sheng chang de ti nei wai yan jiu
you yong ping ; pu pei yu ; liu xu wen ; huang qiang ; xia zhi bai ; wang chun yan ; wang guang xiu

..............page:89-91

ren gong xiu shi shuang deng wei ji yin te yi xing yin wu kuo zeng fa ce ding ren abc1 ji yin tu bian dian i823m
wu xiao yong ; zhang xiao dan ; gu zhuo liang ; zhou guo hua

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

Analysis and application of SCA1 and SCA3/MJD gene CAG repeats in Han population in Northeastern China
jiang zuo ; jin chun lian ; lin chang kun ; qiu guang rong ; liu zong lan ; wang chao xiang ; sun kai lai

..............page:83-85

Diagnosis of hemophilia A by a combination of St14(DXS52) VNTR polymorphism and (CA)n repeat polymorphism within FⅧ gene
zhong chang gao ; li lu zuo ; lu guang

..............page:80-82

Cytogenetic and molecular genetic studies on a variant of t(15;17), ins(17;15)(q21;q14q22), in an acute promyelocytic leukemia patient
chen su ning ; xue yong quan ; wu ya fang ; pan jin lan

..............page:77-79

Rapid detection of 18-trisomy syndrome using primed in situ labeling technique
yang jian bin ; zheng shu

..............page:74-76

Single nucleotide polymorphisms of the myocilin gene in primary open-angle glaucoma patients
fan bao jian ; liang xu hui ; peng zhi pei ;larry baum; tan zuo xian ; wang ning ; lin shun chao

..............page:70-73

The quantitative analysis of protein particles of erythrocyte membrane from Duchenne muscular dystrophy patients and the gene carriers
hong zhi lin ; mu rong shen xing ; zhong xiu rong ; lin zuo zuo ; chen wen lie ; lin zuo ; wang ning

..............page:68-69

X-linked adrenoleukodystrophy ABCD1 gene mutations analysis in China
pan hong ; xiong zuo ; zhang yue hua ; wu zuo ; bao xin hua ; jiang yu wu ; wu xi ru

..............page:1-4

Familial and genetic study in a large Chinese kindred with von Hippel-Lindau disease
zhang jin ; huang yi ran ; wang jing ding ; fan xiao dong

..............page:5-9

Further study on heterogeneic basis of complement C8β deficiency
rao li ; li ying bi ; chen guo di ; zhou bin ;peter m schneider; zhang lin

..............page:10-13

Identification of a novel splice mutation of low density lipoprotein receptor gene in a Chinese family with familial hypercholesterolemia
zuo jie ; wang lv zuo ; liu shu ; pan xiao dong ; du lan ping ; shi feng ru ; qin yan wen ; zhao qing ; guo heng zuo

..............page:14-18

Localization and screening of autosomal dominant coralliform cataract associated gene
xu wei zhen ; zheng shu ; xu shi jie ; huang zuo ; yao ke ; zhang su zhan

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

The relationship between the variants in 5′ upstream core promoter A(-6)G and A(-20)C of angiotensinogen gene and essential hypertension in Kazakans of Xinjiang
li nan fang ; zhou ling ; wu wei dong ; shi yan ; wang xin ling ; wang jun ; li hong jian ; zhang de lian ; zu he re ; ou yang zuo jin ; bu ke li ; zhou ke ming ; cheng qiu yan ; nu er gu li ; zhu deng hao

..............page:23-28

Study on association of PPP1R3 gene 5 bp deletion/insertion within 3′-untranslated region polymorphism with type 2 diabetes
chen ming wei ; yang ming gong ; wang chang jiang ; xu xi ping ; wang you min ; liu shu qin ; zhang qiu ; sun hai yan

..............page:29-31

Identification of BIGH3 gene mutations in the patients with two types of corneal dystrophies
jin tao ; zou liu he ; yang ling ; dong zuo li ; yu jie ; lv zuo

..............page:32-34

Primary functional analysis of of CK13 gene 5′ flanking region
lin gong biao ; xiao jian yun ; qiu yuan zheng ; wang cheng long ; tian yong quan ; zhao su ping

..............page:35-38

Study on the relationship of MTHFR polymorphisms with unexplained recurrent spontaneous abortion
li xiao mei ; zhang you zhong ; xu yan xue ; jiang sen

..............page:39-42

Mutation and amplification of RIT1 gene in hepatocellular carcinoma
li jin tian ; liu wei ; zuo zhi he ; zhang ru hua ; chen han kui ; feng qi sheng

..............page:43-46

Mouse whole mount RNA in situ hybridization:an effective technique for analyzing gene expression
xiao cui ying ;ditsa levanon; zhang si zhong ;yoram groner

..............page:47-51

Construction of middle fragment deletion mutant with improved gene splicing by overlap extension
li cheng hua ; fang hai yan ; deng xiao yun ; xia kun ; zheng duo ; xia jia hui

..............page:52-55

The detection of microsatellite instability by ion-pair reversed-phase high performance liquid chromatography
liu xiao rong ; wang ya ping ; zhang jun ni ; li jin tian ; zhang xiao mei ; zhu ming ; dan xiang nian

..............page:56-60

Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B
yang wei ; tan feng qin ; sun zuo ; zeng ; liu jie ; liu guo yang ; luo hui yuan ; zhang xue

..............page:61-63

Study on significance of single nucleotide polymorphisms in the redox domain of aprimidinic/apurinic endonuclease/redox factor-1 gene in Chinese sporadic colorectal cancer
tang xian bin ; hou jun ; tan yun shan ; zhou heng hua ; liu jia

..............page:64-67

46,xy,inv(1)(p32 q21) yi li
yuan lin ; wang chang fu ; chen yong ling ; deng ming feng

..............page:51

sheng yu 21 dan ti huan er hou zai yun 47,xxy huan er
xu zheng feng ; hu zuo li ; zhu rui fang ; zhang ying ; zhong xiao ling

..............page:55

46,xx,t(6;21) ban xi guan xing liu chan yi li
xu you tao ; yin hua ; han ai hua ; ding cui yuan

..............page:60

18 san ti yi li
xu fei ; fan qi ying ; geng jin hua

..............page:67

46,x,inv(x)(p22;q12) ban zi ran liu chan yi li
zhang jing ; liu li yi

..............page:76

bu tong ran se ti he xing yi chang yi jia er li
meng jin ping ; wu ai hua ; zhang yu ; li shu ping ; zhang ai dong ; cao wen hui

..............page:79

t(21;21) he bing inv(9) yi li
wu shao fen ; zhen jin zhuang ; ou yang hui ; tao xue xun

..............page:82

yi li 46,xx,t(14;16)(q24;p13) yi wei ban ji xing fei lin ba xi bao xing bai xue bing
li yong zan ; ma yi nu ni ya zi ; mao min ; chen liang

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

64 li turner zong he zheng de lin chuang biao xian yu ran se ti fen xi
zhang wei ; wu su bi ; chen yong fen

..............page:96

jie jie xing ying hua zheng yi jia xi 13 li
wang dao ; chen wen xin ; liu rui feng ; zuo yu zhen

..............page:73

ban you you wei xin he shi jian ge que sun de xian tian xing ji ying yang bu liang zheng yi li
huang wen ; zhang cheng ; chen song lin ; wu yi fang ; li zhong

..............page:88

xian tian xing shang zuo xia chui yi jia xi qi li
liu bin ; liu xue juan ; wang gui rong

..............page:91

dan chun xing da zuo xing biao pi song jie zheng yi jia xi 4 dai 16 li
wu meng zuo ; yi jun fan ; zhong da zhi

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

First International Forum on Reproductive Medicine and First Asia Community Genetics Workshop Shenzhen, China, 2004

..............page:扉2-扉2

zhong hua yi xue yi chuan xue za zhi bei liu ge guo ji zhu ming jian suo xi tong shou lu

..............page:封三