Chinese Journal of Medical Genetics 2014 Issue 4 Identification of three novel frameshift mutations in the RUNX2 gene in three sporadic Chinese cases with cleidocranial dysplasia

Identification of three novel frameshift mutations in the RUNX2 gene in three sporadic Chinese cases with cleidocranial dysplasia
Liu Yaping;,Meng Yan;,Qi Zhan;,Yang Wei;

..............page:415-419

A novel mutation in GCH1 gene causes dopa-responsive dystonia
Geng Qian;,Han Chunxi;,Hao Ying;,Wu Weiqing;,Xie Jiansheng;,Xu Zhiyong;

..............page:420-423

18 hao ran se ti duo yi chang qian he ti zong he zheng yi li
li rui ;, song yin sen ;, xu zhe ;, zhao ding ;

..............page:423

Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ
Hu Hao;,Jia Zhengjun;,Wang Hua;,Xie Qiong;

..............page:424-427

tai er xing ran se ti yi chang ban xian tian xing xin zang bing yi li
di su lan ;, feng ji zhen ;, li tian jie ;, wei shu yan ;, yang hui xin ;

..............page:427

Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency
Ji Lijuan;,Lu Jun;

..............page:428-432

Analysis of 22 patients with congenital cleft lip and palate using high-resolution chromosome microarray
cui ying qiu ;, fu fang ;, lei zuo ying ;, li fan ;, li ru ;, wang hong tao ;, xie gui e ;, zhang ying ;, zhang yong ling ;

..............page:433-437

Establishment and application of quantitative detection for heteroplasmic mtDNA mutation 3243A→G
chen lin ;, li wei ;, lu zhao ning ;, lv jian xin ;, yan jing bin ;, yang yu ;, zhang xiao qin ;, zheng chao ;

..............page:438-443

ran se ti yi chang yi jia xi er li
wang xiao xu ;

..............page:443

Genetic diagnosis and analysis of related genes for a pedigree with 2p25 and 12p13 cryptic rearrangements
cong xue wen ;, lan feng hua ;, lin yu xiang ;, qiu li ping ;, tu xiang dong ;, yan ai zhen ;, zeng jian ;, zhang xiao ;, zhou you ;

..............page:444-448

chang ran se ti fu za yi wei ban bu yu yi li
han rui zuo ;, liu jie ;, qi na na ;, song zuo zuo ;, wang shu hong ;, zhang xiang gai ;

..............page:448

Association of CMA1 gene tag single nucleotide polymorphisms with essential hypertension in Yi population from Yunnan
Li Qian;,Wu Yanrui;,Xiao Chunjie;,Yang Ke;

..............page:449-454

han jian ran se ti yi chang he xing yi li
zhang jian ;, zhang yan ;, zhou yan bin ;

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

Association of TLR4 gene polymorphisms with large artery atherosclerotic stroke and vascular bed selectivity of atherosclerotic lesions
ma ai jun ;, na na ;, pan xu dong ;, wang zuo ;, wang li ;, wang yuan ;, xu xiang ;, zhao guo mei ;, zhou run ze ;

..............page:455-461

46,xy,t(11;12) ban zi ran liu chan yi li
lan xin qiang ;, yu li xia ;

..............page:461

Influence of assisted reproduction technologies on genomic imprinting of embryos and offspring
Hu Chenxia;,Jin Fan;,Le Fang;,Wang Liya;

..............page:462-465

The function of transcription factor P63 and its signaling pathway during limb development
Ma Wei;,Tian Wen;

..............page:466-468

Detection of mosaic trisomy 9 missed by conventional cytogenetics using SNP-array and fluorescence in situ hybridization
Chen Songzhang;,Jin Fan;,Li Hongge;,Luo Yuqin;,Pan Lin;,Shen Min;,Xu Chenming;

..............page:469-471

Identification of a novel splicing mutation in COL1A1 gene in a Chinese family affected with type Ⅰ osteogenesis imperfecta
Guo zhenxin;,Jin Xiangdong;,Kong Jinghui;,Song Yinsen;,Zhao Ding;

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

ran se ti fu za ping heng yi wei yi li
guo xiao yan ;, li fu guang ;, tan wei he ;, tang qiao min ;, tang su huan ;, tang jiang ;, zhang dan ;

..............page:475

Limb-girdle muscular dystrophy type 2G: clinical, pathological and genetic analysis of a case
Hao Ying;,Jiao Jinsong;,Jin Miao;,Wang Renbin;,Wang Wei;

..............page:476-478

Establishment of an allele-specific PCR method for direct screening of CYP21A2 gene mutation
Liang Junchao;,Liu Yan;,Wang Weimin;,Zhang Fenghuan;,Zhao Baojian;,Zou Haiqiang;

..............page:479-482

Result survey analysis of prenatal chromosome karyotyping in an external quality assessment program
bao li ming ;, chen xi ;, chen yuan yuan ;, he fa lin ;, wang zuo ;, wang zhi guo ;, zhang zuo ;, zhong ;, zou lin ;

..............page:483-486

Analysis of erythroid-specific blood group genes using un-mobilized peripheral stem cells cultured in vitro
chen shu ;, he ji ;, hong xiao zhen ;, lan xiao fei ;, liu zuo ;, ma kai rong ;, xu xian guo ;, ying yan ling ;, zhu fa ming ;

..............page:487-490

xin xi dong tai

..............page:490,538,前插1-前插2

Association of MMP-14 gene polymorphism with cerebral infarction-A case-control study
hu xiao fei ;, jin xiao ping ;, li cai ;, li wei ling ;, wang feng ;, wang wan fen ;, zheng zhou ;, zhu feng ;, zhu min ;

..............page:491-495

Analysis for 2 samples with HLA-DQB1 allele dropout at exon 2 in sequence-based typing
Deng Zhihui;,Gao Suqing;,Wang Daming;,Xu Yunping;

..............page:496-498

Detection of p53 gene deletion in Xinjiang patients with chronic lymphocytic leukemia by fluorescence in situ hybridization and its clinical significance
Guzailinuer Wufuer;,Li Yan;,Liu Hong;,Maimaitili Yimamu;,Wang Xiaomin;,Xiao Meng;

..............page:499-503

ji sui xiao nao gong ji shi diao yi jia xi ba li
an ran ;, li yan ;, xu yan ming ;

..............page:503

Association of polymorphisms of HLA-DRB1 gene with unexplained recurrent spontaneous abortion in ethnic Hans from Henan
ding xue bing ;, guo qian zuo ;, he zuo ;, hou qiao fang ;, kang bing ;, liao shi xiu ;, wu dong ;, yang ke ;

..............page:504-507

Clinical and genetics characteristics of patients with monosomal karyotype acute myeloid leukemia patients
cheng feng ;, ma xiao lin ;, pan jin lan ;, wang qin rong ;, wen li jun ;, wu ya fang ;, xue yong quan ;, yao hong ;, zhang jun ;

..............page:508-510

Sequence analysis of a novel allele HLA-C * 01: 78
Gao Suqing;,He Liumei;,Wang Daming;,Xu Yunping;,Zhen Jianxin;,Zou Hongyan;

..............page:511-514

Identification of a novel allele HLA-B * 37:04: 02
Li Jianping;,Li Xiaofeng;,Lin Fengqiu;,Zhang Kunlian;,Zhang Xu;

..............page:515-517

Confirmation of 17 rare HLA alleles and prediction of their haplotypes
Liu Yan;,Nie Xiangmin;,Qiao Wenben;,Song Yonghong;,Zhang Yi;,Zhu Chuanfu;,Zhuang Yunlong;

..............page:518-521

63 li yang shui qian he ti de lin chuang fen xi
chen bao jiang ;, chen jian sheng ;, fang qun ;, ji zuo jun ;, lin shao bin ;, wu jian zhu ;, xie ying jun ;, zhang zhi qiang ;

..............page:522-524

687 li nan xing bu yu zheng huan zhe ran se ti he xing fen xi
chen shao ke ;, du juan ;, li dong ming ;, meng da hua ;, ou hui ;, ou shan ;, tang bin ;, wang li fang ;, zheng chen guang ;

..............page:525-527

46,xx,t(8;13;21)(q11.2;q14;q11.2) yi li
chen fang ;, lai ji hong ;, liu xiao guang ;, liu xiu ying ;

..............page:527

268 li xian tian xing xin zang bing tai er de qi xue ran se ti fen xi
an gang ;, cai mei ying ;, guo nan ;, li ying ;, lin na ;, lin yuan ;, xu liang pu ;

..............page:528-530

chan qian zhen duan zhong 9 hao ran se ti yi chang de fa sheng pin lv ji qi sheng zhi yi chuan xiao ying
fan jia ming ;, luo zuo zuo ;, qian fei yan ;, qian lei ;, xu ping ;, zeng yan ;, zhang li fang ;

..............page:531-532

46,xx,t(15 20) liang li
zhang jian ;, zhou yan bin ;

..............page:532

6944 ming gao wei yun fu yang shui de xi bao yi chuan xue fen xi
chu wei ;, gao jian ;, guo wen chao ;, li ya li ;, wang fang na ;

..............page:533-534

liang xing cheng ren jia zu xing ji zhen luan zuo zuo liang jia xi
cui ai qin ;, du xiao ping ;, liu yu zuo ;

..............page:535

yi chuan xing ji sui xiao nao gong ji shi diao 3 xing yi jia xi liu li
jia hua ;, xu yan ming ;, you chao ;, yu zhi kuan ;

..............page:536

nan xing yi wei xing tang shi zong he zheng yi li
jiang zuo ;, kong xiang dong ;, liu ning ;, shi hui rong ;, wang yan hua ;, wu qing hua ;, zhao zhen hua ;

..............page:537-538

nan xing ran se ti ping heng yi wei wu li
mi dong qing ;, peng yuan yuan ;, sun dong lan ;, zhao li juan ;

..............page:539-540

ran se ti ping heng yi wei t(2;4) (q24;q35) yi jia xi er li
chang wen liang ;, jing li ;, lu jing ;, wang yu hong ;, zhao hai jun ;

..............page:540

ran se ti ping heng yi wei liang jia xi si li
heng xue yuan ;, li lin ;, zhang ji xia ;, zheng shu zuo ;

..............page:541

ran se ti yi chang he xing wu li
cong xue wen ;, lian xiao hui ;, lin juan ;, tu xiang dong ;, zhang min ;, zhang xiao ;, zheng hui xin ;, zhong fu chun ;

..............page:542

ran se ti yi chang he xing liang li
mi dong qing ;, peng yuan yuan ;, sun dong lan ;, zhang yan hua ;, zhao li juan ;

..............page:543

ran se ti ping heng yi wei wu li
li ling ;, luo wen hua ;, wang huan ;, xiao zuo ;, zhang wan xing ;

..............page:544

ran se ti ping heng yi wei ban bu liang yun chan liang jia xi si li
li lin ;, yu feng na ;, zhang li ping ;

..............page:545

yi li xin sheng er shai cha fa xian de xian tian xing shen shang xian pi zhi zeng sheng zheng
chen shao ke ;, gu xue fan ;, luo jing si ;

..............page:546