Chinese Journal of Medical Genetics 2015 Issue 3 Preimplantation genetic diagnosis of infantile malignant osteopetrosis in a Chinese family

Preimplantation genetic diagnosis of infantile malignant osteopetrosis in a Chinese family
Yuan Ping;,Zeng Yanhong;,Zheng Lingyan;,Deng Jia;,Wang Jing;,Xu Yanwen;,Zhou Canquan;

..............page:307-311

The value of blastocyst culture on preimplantation genetic diagnosis
ou jian ;, wang zuo ;, ma yan lin ;, zhou zhi ;, ding jie ;, wang zuo xin ;, duan cheng ying ;, li lin jiang ;, zheng ai yan ;

..............page:312-317

46,x,t(x;2)(q24;q31) yi li
wang kang ying ;, tu hai jian ;

..............page:317

A novel indel NF1 mutation identified in a patient with neurofibromatosis type 1
Zhu Tieshan;,Huang Shangzhi;,Wu Jian;,Wang Chundan;,Yang Tao;

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

Kniest dysplasia due to mutation of COL2A1 gene
wu mo ling ;, liu li ;, zhou zhi zi ;, sheng hui ying ;, yin zuo ;, li xiu zhen ;, cheng jing ;, huang yong lan ;, cai yan na ;

..............page:323-326

Identification of novel compound heterozygous mutations of USH2A gene in a family with Usher syndrome type Ⅱ
Jiang Haiou;,Ge Chuanqin;,Wang Yiwang;,Tang Genyun;,Quan Qingli;

..............page:327-330

xran se ti chang bi bu fen que shi zhi yuan fa bi jing yi li
yue fa gui ;, jiang yu zuo ;, wang rui xue ;, liu mei han ;, liu zuo zhi ;, li fu biao ;

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

Congenital hypofibrinogenemia associated with a novel mutation in FGG gene
Wang Yingyu;,Ding Hongxiang;,Hao Xiuping;,Zhu Liqing;,Yang Lihong;,Jin Yanhui;,Wang Mingshan;

..............page:331-334

Analysis of common mutations of deafness-related genes in 2725 newborns
Yu Hong;,Liu Dan;,Yang Jingqun;,Wu Zhiqiang;,Sun Dongmei;,Ma Wolong;

..............page:335-338

Screening of common deaf genes in pregnant women and prevention of deafness at birth
Shao Minjie;,Liu Ping;,Zhao Nan;,Zhong Su;,Zhao Yangyu;,Wei Yuan;

..............page:339-342

Identification of a novel heterozygous mutation in a pedigree with hereditary coagulation factor Ⅻ deficiency
Yang Lihong;,Hao Xiuping;,Wang Yingyu;,Xie Haixiao;,Jin Yanhui;,Zhu Liqing;,Wang Mingshan;

..............page:343-347

liang xing fu fa xing xuan yun yi jia xi liu li
pan li shou ;, deng zuo bo ;, xu yan ming ;

..............page:347

Detection for chromosomal aberrations in 43 fetuses with spontaneous abortion and stillbirth by array-based comparative genomic hybridization
li ying ;, gong ya fei ;, liu han yan ;, song yan qin ;, he wen yin ;, wei jun ;, sun zuo fang ;, chen xin jie ;

..............page:348-352

Subcellular localization of ataxin-3 and its effect on the morphology of cytoplasmic organoids
Wei Feifei;,Xiao Han;,Hu Zhiping;,Zhang Hainan;,Wang Chunyu;,Dai Heping;,Tang Jianguang;

..............page:353-357

Molecular genetic analysis and clinical phenotype of a pedigree with familial dominant drusen
Zhang Ting;,Xie Xuelu;,Zeng Zhibing;,Meng Dan;,Lu Fang;

..............page:358-362

Genetic testing and prenatal diagnosis for eight families affected with Duchenne muscular dystrophy
li zuo ;, zhang jian fang ;, xu ying ;, guo fen fen ;, xu hui ;, yan feng ;, ren ju xia ;, wang de tang ;, chen bi liang ;

..............page:363-366

Detection of ADAR1 gene mutation in a family with dyschromatosis symmetrica hereditaria
Chang Xiaoli;,Ci Chao;,Wang Jun;,Hang Shouyun;,Ji Bihua;

..............page:367-369

Application of chromosome microarray analysis for fetuses with increased nuchal translucency and a normal karyotype
yang zuo ;, fu fang ;, li ru ;, zhang yong ling ;, wan jun hui ;, yang zuo ;, han zuo ;, pan min ;, zhen li ;

..............page:370-374

Prenatal diagnosis of a fetus with partial trisomy 8p resulting from a balanced maternal translocation by array-based comparative genomic hybridization
Guo Caiqin;,Wang Junfeng;,Zhao Li;,Liu Jun;,Wang Jun;,Xiao Jianping;

..............page:375-377

Morphology and pathogenesis of 47, XYY/47, XY, +mar identified in patients with super male syndrome
Song Yinsen;,Jin Xiangdong;,Zhao Ding;,Guo Zhenxin;

..............page:378-380

A rare pk phenotype caused by a 433 C ＞T mutation of the β-1,3-N-acetylgalactosyltransferase gene
lan xiao fei ;, hong xiao zhen ;, xu xian guo ;, chen shu ;, ma kai rong ;, liu zuo ;, he ji ;, zhu fa ming ;, lv hang jun ;

..............page:381-384

46,xy,t(6;7)(p21;p22) ban bu yu yi li
wang xiao xu ;, wang zuo ;

..............page:384

Association of NEDI4 gene polymorphisms with schizophrenia and its clinical characteristics in Chinese Han population
bi xiao zuo ;, cui kai yan ;, han chao ;, sun meng meng ;, wang li na ;, yang li min ;, qiao dong dong ;, han zuo zuo ;, liu lan fen ;

..............page:385-390

gao tong liang ji yin ce xu ti shi 18 san ti gao wei que zhen 46,xy,add(3)(p26.3) yi li
xiang ping xia ;, xiao di ;, liu zuo ;, leng pei ;, hu jiang ;

..............page:390

Association of gender, age, education and polymorphism of DRD4 gene with cognitive functions in adults
zhao lian sheng ;, wang ying cheng ;, wei jin xue ;, yang zuo ;, ni pei yan ;, gu xiao chu ;, li tao ;, ma xiao hong ;

..............page:391-394

Association of MTHFR and MTRR genes polymorphisms with non-disjunctions of chromosomes 18 and 21
Guo Qiannan;,Wang Hongdan;,Yang Ke;,Zhang Bo;,Li Tao;,Liao Shixiu;

..............page:395-399

ai jia zu yi jia xi liu li
yang zuo ;, xu jie ;, li kui ;, liang su hua ;

..............page:399

Association of methylenetetrahydrofolate reductase gene polymorphisms with polycystic ovary syndrome
qi qi zuo ;, zhang hong yan ;, yu mei ying ;, wang xue zuo ;, wang chao zuo ;, xu li ;, wang zuo ;, mou hong xin ;

..............page:400-404

Association of IFNγ gene Tag single nucleotide polymorphisms and HBV infection in ethnic Dai and Hani populations from Yunnan
Gao Jianmei;,Liu Huaxing;,Wang Jinli;,Zuo Rongxia;,Yan Xinming;

..............page:405-409

Genetic polymorphisms of 30 InDel loci in Chinese Tibetan ethnic population residing in Tibet
Bai Rufeng;,Liu Yaju;,Jiang Lizhe;,Lyv Xiaojiao;,Shi Meisen;

..............page:410-414

Identification of 3 novel HLA-A alleles A * 24: 224, A * 24 : 225 and A * 24: 257 by sequence-based typing
Zhu Chuanfu;,Zhang Hongwei;,Zhang Yi;,Nie Xiangmin;

..............page:415-417

Advance in genetic research on multiple system atrophy
Hou Xuan;,Jiang Hong;

..............page:418-421

The role of calcium/calmodulin dependent serine protein kinase in embryonic development and related diseases
Wang Yaqing;,Yuan Li;

..............page:422-425

Advance in research on MRCP2 duplication syndrome
Zhang Qingping;,Bao Xinhua;

..............page:426-429

ren lei wai zhou xue ran se ti g xian dai shi bai biao ben de bu jiu cuo shi
wu li ;, zhao ling ;, wang li ;, zheng qing hua ;, sun shi wei ;, zhang shao hui ;

..............page:430-431

xian tian xing bai nei zhang yi jia xi san li
yang li ;, chen ling ;

..............page:431

di zhong hai pin xue tai er he xing fen xi zhong bu tong biao ben pei yang cheng gong lv de bi jiao
wu jian zhu ;, chen bao jiang ;, zhou dai ;, xie ying jun ;, lin shao bin ;

..............page:432-433

960 fen tai er qi dai xue de ran se ti he xing fen xi
cai mei ying ;, xu liang pu ;, li ying ;, guo nan ;, an gang ;, lin na ;, fu mei mei ;, lin yuan ;

..............page:434-436

ban you shuang zhong t(8;21) ji jin si bei ti he xing de yuan shi li xi bao bai xue bing bu fen fen hua xing yi li
jing yuan ;, jiang feng ;, wang fang zuo ;, lin ;, fang mei yun ;

..............page:436

13330 wei yun fu yun zhong qi chan qian shai cha yu zhen duan jie guo fen xi
zhou hong liang ;, chen xi gui ;, han chun zuo ;, zhang jian ;, ma yun rong ;

..............page:437-439

yi jin qin hun pei jia xi zhong xue guan liu de fa bing qing kuang
li qing feng ;, ren yan lin ;, liu jun feng ;, xu jin li ;, chen li hua ;

..............page:439

kuai su chan qian shai cha fa xian 48,xxxx he 48,xxyy zong he zheng ge yi li
zhao hui ;, li hai xia ;, chen yan bing ;, lu jian ;, yuan teng long ;, he tian wen ;

..............page:440-442

380 li zhi li di xia he fa yu chi huan huan zhe xi bao yi chuan xue fen xi
liao ya ping ;, wang chun jing ;, zhang ding ;, hu ai wu ;, zhao ya guang ;, duan sheng wei ;, xiang ping ;

..............page:443-445

46,xy,rec(3) yi jia xi
wang hong ying ;, hong li yi ;, chen yuan yuan ;, he ya xiang ;

..............page:445

mi man xing fei biao pi song jie xing zhang zuo jiao pi zheng yi jia xi 25 li
xia ru shan ;, yang li jia ;, chen de chang ;

..............page:446

48,xxyy ban fa yu bu liang yi li
an na ;, li lei lei ;, li fu biao ;, zuo zuo ;, liu mei han ;, liu zuo zhi ;

..............page:447

ran se ti 15q11.1-q11.2 wei zhong fu nan xing yi li
liu xiang yin ;, jiang yu zuo ;, shi qing yang ;, liu mei han ;, liu zuo zhi ;, li fu biao ;

..............page:448-449

22 hao huan zhuang ran se ti zong he zheng yi li
zhang hai ping ;, wang zhen ;, lv wei ;, gao liang liang ;

..............page:449

ran se ti yi chang he xing liang jia xi liu li
liu gui juan ;, li lin ;

..............page:450

fei qian he xing 46,x,idic(y)(p11) ban wu jing zheng yi li
yang jie ;, zhang zhou ;, jiang yu zuo ;, shi juan zi ;

..............page:451

45,x,der(y)t(y;21) ban wu jing zi zheng yi li
shi yun fang ;, li xiao zhou ;, zuo duan ;, li yan ;, zhang xiu ling ;, zhang ying ;

..............page:452

biao xian wei zheng chang nan xing de 46,xx/46,xy qian he ti fen xi
zhang wei guo ;, chen zuo guo ;, zhang yang ;, dai mei zhen ;, chen xue jiao ;, pan ying qiu ;, yang huan li ;

..............page:453-454

46,xy,der(6),der(7),der(14),der(15) yi jia xi liang li
xing jiang tao ;, tao chao xin ;, xu li ya ;, zhou jing hua ;, zhang yu na ;

..............page:454

cockayne zong he zheng yi li
zhao zhen yu ;, li li ;

..............page:455-456

zhong hua yi xue yi chuan xue za zhi gao yue

..............page:前插1