Chinese Journal of Birth Health and Heredity 2012 Issue 6 Whole exome sequencing in the researches and diagnosis of monogenic disorders

Whole exome sequencing in the researches and diagnosis of monogenic disorders
KE Hai-ping1;2;DU Zhen-fang2;ZHANG Xian-ning2.

..............page:1-3,132

gong nei fa yu chi huan de zao qi zhen duan yu zhi liao jin zhan
xu ying he fan zheng da tong

..............page:4-6,27

The study of alpha-thalassemia mutations in Dai ethnic children in Yunnan
YI Wei1;YAO Li-qin2;ZOU Tuan-biao2;LI Qian1;3;CHU Jia-you1;YANG Zhao-qing1.

..............page:7-10,97

46,xy,inv(1) dao zhi shao jing zi zheng yi li bao gao
sha yan wei song yue qiang kong hui qiu ping ping zheng ren rui han bin

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

Gene mutation analysis on the β thalassemia trait with normal HbA₂ level
ZHU Chun-jiang1;2;LUO Yun3;DING Hui2;ZHENG Hai-qing2;OU Wei-lin1;ZHONG Ping4.

..............page:11-12,55

46,xy,inv(y)(p11q12) ban wu jing zi yi li bing li fen xi
ou yang hong gen huang ling cong shen yan yan

..............page:43

kai zhan mian fei zheng fu tou ru tang shi zong he zheng shai cha ji zhen duan gong zuo
xu hong wang ai zuo li ji lin xu li min

..............page:44-45

Association study of IL-10 in oxidative stress of etiology of pre-eclampsia
HU Yue;FENG Ling;YU Jun;ZHOU Yong.

..............page:46-47,129

Association of the tumour necrosis factor-α 308 gene polymorphism and susceptibility to severe chronic periodontitis
LIN Xi Hong;CHEN Ling;WU Yun;WEI Bin.

..............page:13-14

The expression levele of IFN-γ,IL-4,in pre-eclamptic serum and to ivestigate their role in pre-eclampisa
LIANG Hui-li;et al.

..............page:48-50

Association ofkiller cell immunoglobulin-like receptors gene and HLA-A、B alleles in patients with acute lymphocyitic Leukemia
HE Li-xin 1;GUO Xiao-ming2;YUN Yu-guang 3;LIU Xiao-ling4.

..............page:15-17,50

ren shen gao xue ya zong he zheng huan zhe d- er ju ti xue xiao ban ji jia tai dan bai zhi biao dui wei chan ji you sheng yi yi fen xi
hu yao wen fang qun han jie hua zhao zhi wei

..............page:51,75

The Changes of vWF,AT in low molecular weight heparin used in severe pre-eclampsia patients
LAN Shu-hai1;TANG Shu-wen1;NIU Xiu-min2.

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

Detection of the CGG repeats and methylation of Fragile X mental retardation gene 1(FMR1)
HUA Mao-fang;LIU Xiao-yun;WANG Wen;CHEN Hong;LIU Fu-min;YAN Xiao-nan.

..............page:18-20

rt-pcr jian ce ke sa qi b3 bing du yi gan ren qun de fen bu ji yi yi
e wen zhang xiao jing liu shu ping lu xin

..............page:21,20

Expression and significance of T-bet mRNA and GATA3 mRNA of preeclampsia patients’ decidua basalis
TIAN Xiao-yu;YANG Hai-lan;HE Yin-fang.

..............page:22-23,25

Epidemiological investigation of β-thalassemia in Zhanjiang area of Guangdong
PANG Jiang-lin1;CHEN Jie2;CHEN Bi1.

..............page:24-25

Study of PESA/TESA with ICSI in azoospermia patients
LIU Ya-feng;OU Jian-ping;ZHONG YI-ping;XU Yan-wen;MIAO Ben-yu;LI Jie;ZHOU Can-quan.

..............page:98-99

Expression of interleukin-8 receptor B in villous tissues anddecidua tissues of patients with spontaneous abortion
BAI Hui-ru1;SONG Fang2;JIANG Wen3.

..............page:56-57,59,1

gao tong xing ban zuo an suan xue zheng yu ren shen xiang guan ji bing de yan jiu
wan bo luo zuo zhen liu guo sheng feng qiang huang hai hong

..............page:58-59

Preliminary study of amino acid composition of human follicular fluid affects the developmental potential of oocytes
LIN Nan;FENG Yun.NIU Zhi-hong;GU Rui-huan.

..............page:100-102,80

Detection of-5/5q-and-7/7q-in myelodysplastic syndromes by fluorescence in situ hybridization and cytogenetic analysis
TANG Yuan-yan;LIANG Yan;XIONG Tao;YU Yong-zhi;HUANG Zhi-ping.

..............page:26-27

nan jing shi qu 170 li mu ru qian yu mu xue qi xue qian han liang de xiang guan xing fen xi
dai jia zhen li yue shi chuan xu zuo ye li li liu kang sheng

..............page:60-61

dan luan shuang tai zuo mei tong huan duo nang luan chao zong he zheng
zhang jian wei huang juan

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

Analysis the ultimate time of severe preeclampsia 566 cases and the neonatal outcomes in Xinjiang province
WANG Zhi-mei;HAN Li-li.

..............page:63-64

Study of influencing factors and pregnancy outcome of poor ovarian response in assisted reproductive technology
PENG Sha;YANG Xiao-kui;et al.

..............page:103-104,113

1173 li yun fu torch gan ran jian ce jie guo fen xi
wang zuo hu jian miao fang lu

..............page:65,72

Analysis of fetal chromosomal karyotypes in 42 pregnant women during the first trimester of gestation
KONG Shu;SUN Xiao-fang;ZHANG Yu-hong;LI Qing.

..............page:28,61

Changes of serum neuron specificity enolase and S100B protein in newborn with hyperbilirubinaemia
CHEN Jie1;2;QIAN Xin-hua1;LIANG Wan-yi3;LIAO Wei-hua4;WU Hong-li4.

..............page:66-68,62

Study of anti-Müllerian hormone in prediction of poor ovarian response
ZHU Ying-zhe;et al.

..............page:105-107

shen jing jie zuo zhi zhi liao dui que yang que xue xing nao bing xin sheng er xue qing nse de ying xiang
zhou chen rong liu li ming xu qiao zuo

..............page:69-70,64

A comparison of day 5 and day 6 frozon-thawed blastocyst transfers
LIU Ji;HU Yu;GONG Li-guo;WENG Ning;XU Peng;CHENG Dong-kai;YU Hong-jun;SUN Xiao-ling;LI Bao-shan.

..............page:108-109,111

gai liang ying guang yuan wei za jiao ji shu de chan qian zhen duan ying yong
liu hong chun

..............page:29,36

Neonatal G6PD deficiency screening results analysis in Xiangtan Area
LI Chen –hui;WU Ming-hua.

..............page:71-72

Clinical significance of MOM of maternal serum AFP、 Free-β-HCG、uE3 in second-trimester Down′s sydrome screening
JI Yan;LIN Jing-yin;CHEN Jian-hong;OU Hui-xian.

..............page:30-32

Analysis of screening results of congential hypothyroidism among 100 749 infants inBaoding city
YIN Hui-fang;WANG Hong-ying.

..............page:73-75

zhong qing di qu yun qian yu ling fu nv feng zhen bing du he gong xing chong gan ran diao cha yan jiu
ji yuan huang jing sun da guang yang liu zhang yi yang ji gao li hong

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

yun yong chao gao bei xian wei fen xi yi jian cha qian lie xian ye de lin chuang jia zhi
guo bao wei liu yan mei hou yun xia

..............page:112-113

Chromosome polymorphism and clinical analysis of ART pregnancy outcome
RUAN Yong-ming;WU Chong-cong;GUO Xiao-bao;et al.

..............page:33-34,32

wu zhou shi 2010 nian -2011 nian du xin sheng er ji bing shai cha de jie guo fen xi
li nian

..............page:76-77

kang jing zi kang ti he kang zi gong nei mo kang ti lian he jian ce zai bu yun zheng zhong de lin chuang jia zhi
wu jian min yan ai fen huang qi jun

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

The impact of fetal gender on birthweight of twins after in vitro fertilization
RAO Teng-zi;WANG Zhi-jian;YU Yan-hong;QUAN Song;HUANG Qian;HUANG Qi-tao

..............page:115-117,38

kai feng di qu 19094 li xin sheng er ben bing tong niao zheng shai cha jie guo fen xi
han mei feng xing lin shen hua

..............page:78

lv liang di qu 1702 li yi chuan zi xun huan zhe wai zhou xue ran se ti he xing fen xi
wu xiao yan zuo gui tao zhao cai ping

..............page:35-36

The correration between the prenatal diagnosis and the prognosis in the patients with placenta accreta
SUN Xiu–fen;JIANG Kun;JIANG Ming.

..............page:118-119,43

To research ganglioside′s obstruct functionary in neonatal rats of OPC′s death channel of alba after hypoxic-ischemic brain damage
MAN Xin;HAO Yan-qiu;HOU Jun-qing;YANG Xue.

..............page:79-80,134

Chromosomal karyotype analysis of chorionic villus from 62 couples’ gestation with recrudescence abortion
LI Shu-ping.

..............page:37-38

The investigation and analysis of related factors of central nervous system(CNS) defects among children aged 0 to 6 years in Hebei province
GAO Zhang-quan1;ZHANG Yi-xin1;ZHANG Ning2;LI Guo-zheng1;LIU Xiao-qun1;HAN Rui-yu1;TIAN Hui-yan;1YAO Guan-feng1.

..............page:120-122

min dong di qu shen jing guan ji xing de fa sheng dong tai he te zheng
song zuo zuo lin xiao yuan

..............page:81-82,87

xiao er fang jian ge que sun de zhi liao ce lue
chen zhi mei du ming zhao

..............page:123,107

kai feng di qu 111 li tang shi zong he zheng huan zhe lin chuang fen xi
zhang feng yue feng xing lin shen hua luo su xia

..............page:39

xiao ying er fa yu xing zuo guan jie yi chang de jia ting gan yu hu li
han mei zhao hong feng xing lin

..............page:124-125

Progress in research on relationship between endometrial carcinoma and matrix metalloproteinases as well as its tissue inhibitor
QIU Shuang;LI Pei-ling.

..............page:126-129

bei jing xi cheng qu 80 li xin sheng er chu sheng que xian lin chuang fen xi
li xue jun li hong xia

..............page:83,93

The results analysis of prenatal screening of 50 333 cases in Qingdao area
WANG Fang;et al.

..............page:40-41,43

The congenital talipes equinovarus epidemiology analysis of 34 samples in Xicheng District
XIA Hong-wei.

..............page:84-85

Comparison of teaching in obstetrics and gynecology between foreign and domestic students
WANG Yu-xia.

..............page:130-132

xian tian xing zi gong fa yu yi chang de cai chao yu hsg zhen duan dui bi fen xi
liu hai yan cao fu zhi yu qing xia zhang bao long zhao wei

..............page:86-87

chao sheng shai cha yun fu yun zao qi gong xing chong gan ran zhi chu sheng que xian fen xi
du bao qin wang xin ying liu shu min xue lian cai

..............page:88,125

Partial constriction of the portal vein produced a SD rat portal vein cavernous transformation of animal models
MAO Jian-xiong;et al.

..............page:89-91,133

cai se chao sheng dong tai zheng jiao san ping mian fa zai tai er xin zang shai cha zhong de ying yong jia zhi
yuan hua jie zuo ping zhao bo wen hua zuo zuo jin she hong shen xiao yan han xin hong zhou jia mei fang min chen jin hong

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

The analysis about mild fetal lateral ventricle and widening of the clinical prognosis
LI Wei-dong;et al.

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

chan qian chao sheng shai cha zhen duan tai er xian tian xing xin zang bing de jia zhi
cao qin ying zhang ning zhang wei xia ge jun zhu jun zhen hu zuo cai tao

..............page:96,125

chao sheng zhen duan tai er jing bu ji tai liu yi li
wang yi li qin jiang yan

..............page:97