Chinese Journal of Medical Genetics 2015 Issue 4 Analysis of parental origin of de novo SCN1A mutations in Dravet syndrome

Analysis of parental origin of de novo SCN1A mutations in Dravet syndrome
Sun Huihui;,Zhang Yuehua;,Xu Xiaojing;,Liu Xiaoyan;,Wu Xiru;

..............page:457-461

Effect of curcumin on oligomer formation and mitochondrial ATP-sensitive potassium channels induced by overexpression or mutation of α-synuclein
chen tao ;, deng yi dong ;, liao xiao ping ;, zhao jian nong ;, wen guo qiang ;, weng guo hu ;, ma fei ;, zheng ying ying ;

..............page:462-467

han jian ran se ti ping heng yi wei yi jia xi liang li
wang xiao xu ;

..............page:467

Analysis of USH2A gene mutation in a Chinese family affected with Usher syndrome
Li Pengcheng;,Liu fei;,Zhang Mingchang;,Wang Qiufen;,Liu Mugen;

..............page:468-471

chan qian zhen duan fu za yi wei xing 21 san ti zong he zheng yi li
wu xiao qing ;, li ying ;, cai mei ying ;, an gang ;, he de qin ;, xu liang pu ;, huang hai long ;, lin yuan ;

..............page:471

Analysis of chromosome regions 8q11.1-q13.3, 1q32-q34.3 and 14q31.1-q13.3 in a Chinese family with congenital preauricular fistula
song jian wen ;, wu zuo ;, nie fa yi ;, wang bi zuo ;, li ;, shu an li ;, ma yan ling ;, zhang rui ;,john r kelso;

..............page:472-475

Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda
wu zuo ;, deng kai xian ;, wang chun zuo ;, li gui fang ;, lin jing ;, wang rong pin ;, wu hai li ;, huang sheng wen ;

..............page:476-480

Mutation analysis of HOXD13 gene in a Chinese family affected with autosomal dominant synpolydactyly
Li Yan;,Xin Qian;,Shan Shan;,Li Jiangxia;,Liu Qiji;

..............page:481-484

A novel mutation T8821G in mitochondrial DNA may be associated with Leber's hereditary optic neuropathy
gao min ;, zhang sai ;, zhang zeng jun ;, zhao fu xin ;, zhang juan juan ;, liang min ;, liu xiao ling ;, wei qi ping ;, tong yi ;

..............page:485-489

Genetic and prenatal diagnosis for a Chinese family with primary carnitine deficiency
Su Yanhua;,Liu Yang;,Xie Jiansheng;,Xu Zhiyong;,Wu Weiqing;,Geng Qian;,Luo Fuwei;

..............page:490-494

Detection of a recurrent de novo mutation in a Chinese family affected with Duchenne muscular dystrophy
Duan Honglei;,Wang Wanjun;,Zhu Xiangyu;,Wang Yaping;,Li Jie;

..............page:495-497

Regulation of Smad ubiquitination regulatory factor 1 expression by NF-κB
Wang Xi;,Li Yinghui;,Zhang Hongjun;,Hu Yongsheng;,Luan Tao;,Chen Fangjie;

..............page:498-501

Analysis of clinical features and AGL gene mutations in a family with glycogen storage disease type Ⅲa
guo li ;, lin wei xia ;, zhang zhan hui ;, zhao xin jing ;, zhang sui ;, cai xiang ran ;, zhou qing ;, song yuan zong ;

..............page:502-505

Analysis of TSC gene mutation in a patient with tuberous sclerosis
zhang zheng zhong ;, lv yong mei ;, mou yun zhu ;, yang hao ;, yang ping ;, liu yi ping ;, liu lin li ;, chen xing ;, zuo wei chi ;

..............page:506-508

Suspected pathogenic mutation identified in two cases with oculocutaneous albinism
He Jiangmei;,Zheng Meiling;,Zhang Guilin;,Hua Ailing;

..............page:509-511

Prenatal diagnosis of a case with combined Wolf-Hirschhorn syndrome and Jacobsen syndrome
dong yan ling ;, hu hua mei ;, hu hua ;, zhang rong ;, hu bin ;, long yang ;, xu gang ;, yao hong ;

..............page:512-514

Analysis of copy number variations in α-globin gene in the cases with combined increased levels of HbF with β thalassemia
Liu Siping;,Song Lanlin;,Xiong Li;,Wang Ke;,Shen Hong;,Zhong Mei;

..............page:515-519

46,xx,t(12;20)(p12;p12) liang li
li zhuo ;, chen lin ;, zhang hui ;, zu shu jing ;, zhang yan ying ;

..............page:519

Phenotypic and genetic analysis of a patient presented with Tietz/Waardenburg type Ⅱa syndrome
Wang Huanhuan;,Tang Lifang;,Zhang Jingmin;,Hu Qin;,Chen Yingwei;,Xiao Bing;

..............page:520-523

Analysis of C.3925_3929 deletional mutations of APC gene in pedigrees with familial adenomatous polyposis
chen qing wei ;, liu si wen ;, feng ji feng ;, zhang xiao mei ;, chen sen qing ;, ma guo jian ;, zhu ming ;, zhang yuan ying ;, yu jun ;

..............page:524-528

mu xi yi chuan de ran se ti yi chang he xing liang jia xi si li
wei xiao ming ;, li lin ;

..............page:528

Diagnosis of a case with Williams-Beuren syndrome by single nucleotide polymorphism array
jin yu xia ;, liu xia ;, li su ping ;, ge jia mei ;, wu xiu fang ;, song qin hao ;, zhou chi yan ;, miao zheng you ;

..............page:529-532

Application of next-generation DNA sequencing for prenatal testing of fetal chromosomal aneuploidies
Liu Jing;,Wang Hua;,Xi Hui;,Jia Zhengjun;,Zhou Yuchun;,Wu Lingqian;

..............page:533-537

Association of single nucleotide polymorphisms of cytochrome P450 gene with susceptibility to gout in ethnic Han males from coastal regions of Shandong province
han lin ;, mao gui zhi ;, chen ying ;, li chang gui ;, liu zhen ;, wang yao ;, li zuo de ;, sun ming xia ;, ren wei ;

..............page:538-542

Association of prostasin gene rs12597511 polymorphism with outcomes of pregnancy with severe preeclampsia
Kong Weiqi;,Zhang Yanyan;,Gong Yunhui;,Dai Li;,Zhou Rong;

..............page:543-547

wai er biao xing bu tong de tong luan shuang bao tai
hu jin tian ;, chen zuo ;, cao yi lin ;, wang yue ;, qian zuo ;, zhang qing guo ;

..............page:547

Association of plasma homocysteine level and polymorphism of methione synthase reductase gene with essential hypertension in ethnic Uyghurs and Hans from Xinjiang
Chen Fang;,Zhang Ying;,Wang Hong;,Ouyang Juyan;,Munila·Ainiwaer;,Kalibinuer·Yakefu;,Yang Mengzhi;

..............page:548-553

Study of molecular mechanism and antigen expression of CisAB01 blood group
Deng Gang;,Xu Deyi;,Liang Wei;,He Yunlei;,Huang Dandan;,Guo Wenyu;,Zhang Ri;

..............page:554-557

Sequence analysis of O04 allele expression of A antigen
Zhang Xu;,Li Jianping;

..............page:558-561

zi ran liu chan xiang guan de han jian he xing san li
guo hong xia ;, ping hui ;, niu li hui ;, tian wei ;, li shou xia ;, chen ding li ;, chen yan hong ;, feng li juan ;

..............page:561

Transglutaminase and neurodegenerative diseases
Liu Zhen;,Zeng Junsheng;,Zeng sheng;,Tang Beisha;,Wang Junling;

..............page:562-566

Diseases of offspring conceived by assisted reproductive technology and epigenetics
Huang Hongfeng;,Chen Xuan;,Yang Xiaoyu;,Huang Yanfang;

..............page:567-571

t(6;13)(q23.3;q31.3) yi wei ban fu fa xing liu chan huan zhe liu chan zu zhi ji zhi ru qian pei tai de yi chuan xue jian ce
wang ;, zhang jing ;, li zuo ;, huang jian lei ;, ma ye fei ;, zhang zhen qiang ;, wang xiao hong ;

..............page:572-574

duo zhong fang fa jian ce tai er yi wei qian he xing 21- san ti zong he zheng yi li
jiang yu zuo ;, wang wen jing ;, yu yang ;, yue jia ming ;, liu zuo zhi ;, li fu biao ;

..............page:574

d12s391 ji yin zuo jian chu san dai xing deng wei ji yin er li
lan fei fei ;, li hai xia ;, qin dan qing ;, lu jian ;, zhao hui ;, yin ai hua ;

..............page:575-576

220 li yuan fa bi jing huan zhe de yi chuan xue fen xi
liu chang mei ;, li lin ;

..............page:577-579

46,xy,t(1;3)(p22;p13),9ph+ ban ji xing jing zi zheng yi li
chen shuang ;, jiang yu zuo ;, jia chun zuo ;, zuo zuo ;, wang wen jing ;, liu zuo zhi ;

..............page:579

198 li turner zong he zheng huan zhe de he xing yu lin chuang biao xian fen xi
he jing ;, zhao qing fen ;, wang rui hong ;, tang xin hua ;, zhu zuo ;, yu rui ;, huang wen ming ;, li hai chun ;, zhu bao sheng ;

..............page:580-582

900 li bu yun bu yu huan zhe ran se ti he xing fen xi
zhu hai yan ;, zhang hai rong ;, shen zu zuo ;, zhan xiao hua ;, ji chun yan ;, wang xue song ;, wang ai ming ;

..............page:583-584

325 li ying you er yuan zhui dong mai gan ji xing yu xi bao yi chuan xue fen xi
huang shu fang ;, li ping ;, wu yue heng ;, xiao ding zuo ;, ding hong ;, zhang wen wei ;, chen jing ;, chen shao xian ;, meng jin xiu ;

..............page:585-588

109 li yuan fa xing bi jing huan zhe de yi chuan xue fen xi
wu jian zhu ;, lin shao bin ;, zhou dai ;, chen bao jiang ;

..............page:589-590

ran se ti duo tai xing qh+ yu fu fa xing liu chan guan xi de tan tao
wang gui ling ;, ren chun e ;, jiang ai fang ;

..............page:591-592

zhi li di xia he gu du zheng deng ren qun zhong cui xing x zong he zheng de shai cha
yu li ;, duan ran hui ;

..............page:593-596

yuan fa xing zhen chan yi jia xi liu li
fan fang jin ;, an ran ;, xu yan ming ;

..............page:597-598

ran se ti zheng bi ping heng yi wei liang jia xi san li
xu hong yan ;, li lin ;

..............page:598

jia zu xing jia zhuang xian zhong liang jia xi
liu zeng ;, liu guo qiang ;

..............page:599-600

tai er xin fa biao ji ran se ti ban ping heng yi wei yi li
jiang yu zuo ;, yue jia ming ;, shi qing yang ;, wang wen jing ;, liu zuo zhi ;, li fu biao ;

..............page:600

zuo zuo - qiao nao - xiao nao wei suo yi jia xi
jiang zong ze ;, zeng zhi ;, li yu ;

..............page:601

yuan fa xing zhen chan yi jia xi ba li
chen jing ;, zhao quan zhen ;, xu yan ming ;

..............page:602

18 hao ran se ti chang bi bu fen san ti he bing edward zong he zheng yi li
dai ou huan ;

..............page:603

ran se ti he xing yi chang liang jia xi
le ping ;, zhang xiao zhen ;, huo xiao chun ;, li wen zuo ;, li zuo jiao ;

..............page:604

yi jia xi san li 2(q35-qter) san ti he 4(q35-qter) dan ti de lin chuang biao xian he xi bao yi chuan xue fen xi
liang ming hong ;, wang wen jing ;, ren chen chun ;, zhang hai xia ;, yang wei wei ;, zhang yue xiang ;

..............page:605-606

ji yin zhen duan ji sui xing ji wei suo zheng yi li
liu wei liang ;, li fang ;, he zhi xu ;, ai rong ;

..............page:607-608

46,xx,t(7;8)(q31.2;q13) yi li
xiong jin ;, peng hai ying ;, dong yi fei ;, zhang chang jun ;, du kun ;

..............page:608

zhong hua yi xue yi chuan xue za zhi gao yue

..............page:前插1