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Chinese Journal of Medical Genetics
1003-9406
2007 Issue 6
yi chuan xing xian tian xing bai nei zhang yi jia xi
wang yan mei ; wang gui ling ; xu feng ; xin hong
..............page:691
mu nv tong huan jin xing xing dui cheng xing hong ban jiao hua zheng
zhang guo long ; shi he jian
..............page:659
dubin-johnson zong he zheng yi jia xi
wang zuo ; zhao gui ming ; li xiang ; gao min ; wang jing ; zhang wan zeng
..............page:655
45,xy,t(6;7)t(13;22) yi li
zhang ai ping ; zhang xue hong ; liu li jun ; wang rui yan
..............page:669
45,x,t(y;15)(pter;p11) nan xing wu jing zheng yi li
liu fang ; shi cai hong ; zhou you quan
..............page:673
fu za yi wei ban zi ran liu chan yi li
bian chao ying ; wang ge ; guan chang ji ; han wei tian
..............page:676
t(x;15)(p21;q14) yi jia xi liang li
shi li hua ; xie jin lai ; chen xi wang
..............page:684
yi li t(5;17;11;7) yi wei
wang wei hong ; li hong yu ; liu mu jun ; li ai lin
..............page:702
78 li tang shi zong he zheng ran se ti he xing fen xi
zhang wei hong ; si bao min ; wang ya ping ; ye jun jie
..............page:708
fu fu ran se ti yi chang ban liu chan yu si tai
wang jing bing ; wu xiao tang ; yang jin xin ; ma hong xing
..............page:726
45,xo/46,x,psu dic(x) yi chang he xing er li
li lin
..............page:729
ping heng yi wei xie dai zhe sheng yu zhi li di xia er yi li
wang rui li ; wang jing xian ; wang cheng dong ; li hai bo ; ding xiao mei ; guan li xue
..............page:733
er tong xing ge xie bing yi li
wei xu ting ; liu kun ling ; liu yan ling
..............page:619
ran se ti yi chang he xing san li
zhou ming jun ; zheng wen liang
..............page:651
xing fan zhuan zong he zheng 46,xy nv xing yi li
wang yi ; zhang li jun ; chen zuo zuo ; shi hong kai ; lu zhen yu ; gu ming min ; wang zhu gang
..............page:639
46,xx,t(4;11)(q21;q23)pat yi jia xi liang li
fang wei qun ; tan qiong zhen ; tao wan lin
..............page:624
25 li ji xing dan he xi bao bai xue bing de lin chuang yu xi bao yi chuan xue fen xi
zhou min ; zuo ling ; chen tao ; xiao rong
..............page:727-728
Genetic polymorphism of four X chromosome short temden repeats loci in Hebei Han population
WANG Yi;BAI Xue;CONG Bin;LI Shu-jin;FU Li-hong;MA Chun-ling;ZHAO Yan-mei;ZHANG Lei;ZHEN Yan-feng;YAO Yu-xia
..............page:713-716
The building of chip-based capillary electrophoresis platform and application
HU Hua;XIONG Qiang;LI Cai-xia;GAO Hua-fang;YANG Qian;LIANG Zhi-qing
..............page:709-712
Analysis of chromosome mosaicism in preimplantation embryos by using 2 sequential rounds of fluorescence in situ hybridization
REN Xiu-lian;XU Yan-wen;ZHOU Can-quan;ZHUANG Guang-lun
..............page:706-708
Association of thiazide-sensitive Na+ -Cl- cotransporter gene polymorphisms with the risk of essential hypertension
ZHAN Yi-yang;JIANG Xiao;LIN Gang;LI Jian;SHENG Hai-hui;XIAO Hua-sheng;CHENG Yun-lin;HUANG Jun
..............page:703-705
Single-nucleotide polymorphisms of the cytidine deaminase gene in childhood with acute leukemia and normal Chinese children
YUE Li-jie;CHEN Xiao-wen;LI Cheng-rong;LI Chang-gang;SHI Hong-song;ZHANG Min
..............page:699-702
Clinical and laboratory investigation of hematological malignancy patients carrying 3q21q26 rearrangement
XU Fang-yun;LIU Xu-ping;QIN Shuang;LI Cheng-wen;LIN Dong;MI Ying-chang;LIU Shi-he;WANG Jian-xiang
..............page:696-698
Types and frequencies of variants in Amelogenin gene in Chinese population
CHEN Ai-ping;CHEN Yong;WANG Hui-pin;CHEN Wei-hong;CHEN Hao;CHEN Li-xian;SUN Hong-yu
..............page:615-619
Genetic analysis of a Chinese pedigree with split hand and foot malformation
YANG Jun;GAO Ling-han;SHU An-li;QIN Wei;FENG Guo-yin;HE Lin
..............page:620-624
Study on mechanisms of the expression regulation of interferon-induced gene RIG-G
LI Dong;XIAO Shu;PAN Xiao-rong;LOU Ye-jiang;JIA Pei-min;TONG Jian-hua
..............page:625-628
A novel mutation in the myocilin gene identified in a Chinese primary open angle glaucoma family
TIAN Qiang;LI Fu-hua;ZHAO Kan-xing;WANG Li;SHAN Xiao-yan;PANG Yu-ying;LI Yi-xin;WU Mei-jun;QIU Feng;LI Hai-yun
..............page:629-634
Analysis of complex chromosomal aberrations in patients with myelodysplastic syndromes using multiplex fluorescence in situ hybridization combined with whole chromosome painting
CHEN Li-juan;LI Jian-yong;XIAO Bing;ZHU Yu;LIU Qiong;PAN Jin-lan;QIU Hai-rong;FAN Lei;ZHANG Su-jiang;LU Rui-nan;XU Wei;XUE Yong-quan
..............page:635-639
Study on the germline mutation of MSH6 gene in Chinese hereditary nonpolyposis colorectal cancer pedigrees using PCR based sequencing
YAN Shi-yan;ZHOU Xiao-yan;CAI San-jun;YU Bao-hua;ZHANG Tai-ming;LI Xiao-mei;LU Yong-ming;ZHOU Heng-hua;MO Shan-jing;DU Xiang;SHI Da-ren
..............page:640-645
EXT1 and EXT2 mutation identified by denaturing high performance liquid chromatograph in three families with hereditary multiple exostoses
ZHANG Meng;LIU Shi-guo;LI Fei-feng;ZHOU Wan-hao;JIN Xiao-hua;MA Xu
..............page:646-651
Study on ABO gene polymorphism in Uighur nationality in Xinjiang of China
YU Qiong;LU Liang;YU Miao-cheng;LIANG Yan-lian;SU Yu-qing;WANG Da-ming
..............page:652-655
Relationship between polymorphism of urotensin Ⅱ gene and type 2 diabetes in pedigrees
WU Xue-ji;QIN Lei;ZHOU Jin-yi;CHENG Jin-luo;SHEN Mo-yu;WANG Jin-song;ZHOU Ling
..............page:656-659
Mutation detection of PKD1 gene in patients with autosomal dominant polycystic kidney diseases
LI Li;LI Lu-yun;ZHONG Chang-gao;GAO Bo-di;LU Guang-xiu
..............page:666-669
Genotyping and CA4 gene analysis in a Chinese family with retinitis pigmentosa
ZHANG Xiao-hui;DONG Bing;YAN Wei-yu;SHAN Ming-hua;LI Yang
..............page:670-673
The methylation locus and frequency pattern on p16INK4a gene promoter CpG in epidermis of patients with psoriasis
CHEN Min;CUI Pan-gen;YAO Xu;CAO Yuan-hua;GONG Juan-qin;LI An-sheng;CHEN Zhi-qiang
..............page:674-676
Gene screening in five Chinese families with hereditary spastic paraplegia with thin corpus callosum
ZHAO Guo-hua;GUO Peng;REN Zhi-jun;LIU Xiao-min;SHEN Lu;XIA Kun;TANG Bei-sha
..............page:677-680
Mutation analysis in families with 21-hydroxylase deficiency
WANG Hui;JIANG Ling;WANG Ping-ping;ZHOU Hai-bin;WANG Jia-li;SONG Lu-lu
..............page:681-684
Fluorescence in situ hybridization identifies complex chromosomal aberrations in multiple myeloma
LIU Shu-yan;HUANG Jin-wen;ZHANG Jin;DU Hua-ping;JIANG Hao;LI Jian-yong;XUE Yong-quan
..............page:685-688
Application of tandem mass spectrometry on the diagnosis of fatty acid oxidation disorders
HAN Lian-shu;YE Jun;QIU Wen-juan;GAO Xiao-lan;WANG Yu;ZHANG Yong-jun;GU Xue-fan
..............page:692-695
jin qin jie hun yi jia xi san li dan chun xing yi chuan xing jing luan xing jie tan
xu ming yuan ; li kang zeng ; zheng zhi xiong ; zhong lin qing
..............page:645
bian ying xing xue guan yan yi jia xi liang li
zhao ying ; fu sheng miao ; wu yan
..............page:698
pi fu yi se bing yang dian fen yang bian bing yi jia xi
hu yan ; li ming ; zhu xiao hong ; wang li jun ; di jian xin
..............page:731
xian tian xing hou jia zheng liang jia xi liu li
kang xiao jing ; li fan ; tu bi ye re yi mu ; wu wei dong ; zhang de zhi ; pu xiong ming
..............page:732-733
klein zong he zheng yi jia xi
du li cheng
..............page:734
xiao xi
..............page:680,728
yran se ti chang bi que shi yi li
zhang feng qin ; wang sheng he
..............page:634