Chinese Journal of Medical Genetics 2009 Issue 3 A new EXT2 mutation in a Chinese family with hereditary multiple exostoses

A new EXT2 mutation in a Chinese family with hereditary multiple exostoses
ZHAO Wen-qiu;SONG Shu-juan;WEI Qing;QIAO Jie

..............page:241-244

Analysis of TGFBI gene mutation in a Chinese family with atypical Reis-Bückler corneal dystrophy
LI Dan-dan;QI Yan-hua;HAN Qing;LIN Hui;ZHAO Li-ming;ZHANG Chun-mei

..............page:245-248

Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene
KE Xin;DONG Ai-ling;LIU Qi-ji

..............page:267-271

Linkage analysis of a Chinese family with autosomal dominant congenital retinaochoroidal coloboma
DONG Jia-mei;BU Juan;LI Jing;ZHUO Yan-ling;WANG Le-jin

..............page:263-266

Establishment of an assay for cloning and sequencing the full-length HLA-Cw gene
DENG Zhi-hui;XU Yun-ping;GAO Su-qing;LI Da-cheng;YU Qiong;SU Yu-qing;ZENG Jian-qiang;YANG Bao-cheng

..............page:258-262

A novel M142T mutation in the B glycosyltransferase gene associated with B3 variant in Chinese
XU Xian-guo;HONG Xiao-zhen;LIU Ying;ZHU Fa-ming;LV Hang-jun;YAN Li-xing

..............page:254-257

Effects of inhibition of ANG-2 expression in Ishikawa cell line
ZHOU Huai-jun;HE Rong-rong;XIA Bao-mei;XUN Qing-ying;PAN Jin-shun;HU Ya-li

..............page:249-253

Association study on the mitochondrial genome region np16181-16193 variation with type 2 diabetes mellitus
CHEN Fang-jian;YU Hong;LIN Hong;HU Chao-hui;HU YA-guo;LV Jian-xin

..............page:340-344

Detection of a copy number mutation on chromosome 7q36 using the Affymetrix SNP Array 6.0
MA Fen;WU Feng-xia;LI Ning;LIU Qing;YANG Wei;ZHANG Xue;SUN Miao

..............page:336-339

Quantitative pyrosequencing of heterozygous single nucleotide polymorphisms for rapid diagnosis of Down's syndrome
LIU Xi-qun;WU Hai-ping;BU Ying;ZOU Bing-jie;CHEN Zhi-yao;ZHOU Guo-hua

..............page:331-335

ji xing li xi bao xing bai xue bing bing fa shi xue xi bao zong he zheng yi li
wei xu ting ; liu yan ling

..............page:287

jia zu xing man xing liang xing tian zuo chuang yi jia xi si li
zhang guo long ; shi he jian ; shao min hua

..............page:335

bartter zong he zheng he bing yuan fa xing wei xiao bing bian xing shen bing zong he zheng yi li
zhao shui ai ; shen hui jun ; mao jian hua ; liu ai min

..............page:354-355

ji yin zhen duan crouzon zong he zheng yi li
ma hong wei ; pan xue xia ; ma jian ; liu fang

..............page:356

marcus gunn zong he zheng he bing chun zuo lie yi li ji jia xi diao cha
lin dong xiao ; peng tao

..............page:357

A twin study on intelligence and processing speed heritability of children and adolescent
ZHANG Xiao-wei;HUANG Yi;XIANG Yun;GAO Xin;SITU Ming-jing;FANG Hui;ZHANG Yi;FU Yi-xiao;JIA Lu;MENG Hua-qing;MA Xiao-hong;WANG Ying-cheng;LIU Xie-he;LI Tao

..............page:326-330

Detection of factor Ⅷ intron 1 inversion in severe haemophilia A
LIANG Yan;YAN Zhen-yu;YAN Mei;HUA Bao-lai;XIAO Bai;ZHAO Yong-qiang;LIU Jing-zhong

..............page:323-325

Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients,carriers, and prenatal diagnosis
LI Hong;DING Jie;WANG Wei;CHEN Ying;LU Wei;SHAO Hong;WU Bai-lin

..............page:318-322

Association ofMLHI gene 415G/C polymorphism with colorectal cancer in Chinese
TAO Wei-ping;HU Sheng;FENG Jue-ping;XIE Yi-shan

..............page:314-317

A investigation of BRAF mutation in papillary thyroid carcinoma and its clinical value
GONG Ri-xiang;ZHOU Yang;LUO Shu-hua;ZHANG Lin;ZHOU Bin

..............page:310-313

Gene diagnosis for spinal muscular atrophy and its application study
CAO Dong-hua;REN Mei-hong;LIN Chang-kun;CUI Wan-ting;MA Hong-wei;WU Ying-yu;JIN Chun-lian

..............page:306-309

Association between HRE-2 gene polymorphism at codon 655 and genetic susceptibility of colorectal cancer
LIANG Xia;ZHANG Yong-jing;LIU Bing;NI Qin;JIN Ming-juan;MA Xin-yuan;YAO Kai-yan;LI Qi-long;CHEN Kun

..............page:302-305

46,xx,der(2)ins(2;8)(q21;q11q13)t(2;16)(q21;q13),del(8)(q11q13),der(16)t(2;16) ban xian tian xing zuo guan jie tuo wei yi li
zhang wang dong ; lin zhen zong

..............page:355

46,xx,t(3;15) ban xi guan xing liu chan yi li
li wei

..............page:330

ran se ti yi chang san li ji jia xi diao cha
wen li juan ; liu li ming ; meng zhao yan

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

21 san ti zong he zheng yun fu de liang ci chan qian zhen duan
li ya li ; yu xiao ping ; wang fang na ; gao jian mei bing

..............page:313

huan zhuang ran se ti ban zhi li di xia yi li
wang rui li ; pan li ; mou zuo ; wang jing xian ; wang cheng dong

..............page:276

t(13;21) yi jia xi er li
xia yan ; duan ling ; cao ling

..............page:271

47,xy,inv(x)(p22q13),+21 yi li
zhu jian sheng ; wang chao hong ; ji gang

..............page:266

ran se ti 15p⁺ yi jia xi liang li
lu hong mei ; yue feng zhen ; yang zuo qin ; peng cai xia

..............page:244

bai xi bao jie su shou ti zuo kang ji ji yin duo tai xing yu xi guan xing liu chan de guan xi
dai mei zhen ; zhu min ; jin xian fu ; zhang yang ; zhang wei guo ; chen xue jiao ; lin ai fen

..............page:352-353

gong jing guan nei zi yang xi bao jin xing ran se ti yi chang wu chuang xing chan qian zhen duan
chen bao jiang ; chen hua yun ; chen min ling ; fang qun

..............page:350-351

No association of the A2756G polymorphism of methionine synthase gene with nonsyndromic cleft lip with or without cleft palate
GUO Jin-zhen;SONG Xiao-ming;WANG Yun;ZHU Wen-li;LI Shu-qin;LI Yong

..............page:345-349

ran se ti fu za jie gou yi chang san li
liu yan qiu ; zhou ji hui ; xie kang ; li yu zhong ; zhang ai ping

..............page:364

yi huang zuo wei zhu yao biao xian de ni man yi pi ke bing yi li
zhang hong ying ; zhu yue yong ; chen jing ; chen li hong

..............page:281

12 li que xian er de yi chuan bing yin xue fen xi
li li sha ; wei xin yan ; pan jin tao ; ren hong jin ; zheng zhi xian ; zeng yong ke

..............page:358-359

1540 li yang shui xi bao ran se ti he xing fen xi
jin yu xia ; miao zheng you ; hu jian ping

..............page:360

88 li ran se ti yi chang yu lin chuang biao xian
wei mei de ; su guo sheng ; zhao huan

..............page:361

80 li nan mian liu chan huan zhe pei tai ran se ti he xing fen xi
jiang ping fu ping ; liu xiao rong ; zhang yu yin

..............page:362

ran se ti yi chang he xing si li
li lin ; du jia sheng

..............page:363

AAA ATPases and hereditary spastic paraplegia
WANG Yin-guang;SHEN Lu

..............page:298-301

Study on the genotyping of single nucleotide polymorphisms for a large number of samples by three-dimensional polyacrylamide gel-bused microarray method
CHENG Lu;XIAO Peng-feng;SUN Bei-li;GE Qin-yu;LU Zu-hong

..............page:293-297

Study on the expression and significance of Galectin-3 and CDC25B mRNA in human gastric carcinoma
ZHANG Xiu-ming;YAO Gen-you;ZHANG Bu-yi;WANG Ling-ling;ZHAO Min

..............page:288-292

Clinical and molecular genetic analysis for 7 patients from 5 pedigrees with 17α-hydroxylase/17, 20 lyase deficiency
LIU Bing-li;QIAO Jie;CHEN Xia;LIANG Jun;ZUO Chun-lin;GU Yan-yun;HAN Bing;GONG Jing;RU Ying;LU Ying-li;WU Wan-ling;CHEN Ming-dao;SONG Huai-dong

..............page:282-287

Preliminary functional analysis of a novel mutation in GATA-4 gene in Chinese patients with congenital cardiac septal defects
CHEN Ming-wu;PANG Yu-sheng;GUO Ying;LIU Bing-li;SHEN Jie;SONG Huai-dong;LIU Tang-wei

..............page:277-281

Identification of a novel allele HLA-DRB1*1218
GAO Su-qing;DENG Zhi-hui;XU Yun-ping

..............page:272-276