Chinese Journal of Medical Genetics 2013 Issue 2 Genetic and clinical study of three Chinese pedigrees with Fabry disease

Genetic and clinical study of three Chinese pedigrees with Fabry disease
TIAN Mao-lu;YAN Yuan-long;XIONG Jia-chuan;LIU Xiao-xia;YANG Yuan;HU Zhang-xue

..............page:185-188

ran se ti zheng bi ping heng yi wei liang li
li lin ; liu gui lin ; zheng shu zuo ; zhang ji xia

..............page:142

Molecular diagnosis of OTC gene mutation in a Chinese family with ornithine transcarbamylase deficiency
meng lu lu ; jiang tao ; qin ling ; ma ding yuan ; chen yu lin ; han shu ping ; yu zhang bin ; guo xi rong ; hu ping

..............page:195-198

Immunophenotyping and molecular genetic analysis of diffuse large B-cell lymphoma
HAN Yong-sheng;XUE Yong-quan;YANG Hai-yan;ZHANG Jun;PAN Jin-lan

..............page:143-147

ran se ti ping heng yi wei liang jia xi si li
zhu ge bao zhong ; li lin ; zheng shu zuo ; zhang ji xia

..............page:254

Karyotype analysis using cells cultured from fetal bladder centesis
GAO Jian;RONG Li-min;MEI Bing;YU Xiao-ping;GUO Wen-chao;LI Ya-li

..............page:207-209

Association between polymorphisms of PSMB8, PSMB9 and TAP2 genes with rheumatoid arthritis in ethnic Han Chinese from Yunnan
yu liang ; li qin ; lin jun ; yu juan ; li zuo ; yi zuo ; sun hao ; zuo jia dai ; yang zhao qing

..............page:222-226

G6PD deficiency among children under 7 years old from Yunnan with unique ethnic minority origin
yao li qin ; zou tuan biao ; wang xing tian ; quan xing ; chen qian ; yang fa bin ; hu li sha ; fan li mei ; wang min

..............page:189-194

Application of combined fluorescence in situ hybridization and karyotype analysis for the diagnosis of Robertsonian translocation type trisomy 21
ZHANG Wei-guo;ZHANG Wei-qing;DAI Mei-zhen;CHEN Xue-jiao;ZHANG Yuan;ZHENG Rui

..............page:210-213

Genetic analysis of an individual with para-Bombay phenotype
LIN Jia-jin;HUANG Ying;ZHU Sui-yong

..............page:165-167

si bei ti xin sheng er yi li
huo xiao chun ; zhang xiao zhen ; yu ji ying ; han feng ; le ping

..............page:206

ran se ti yi chang he xing san li
zhang yan hua ; mi dong qing ; zhao li juan

..............page:252

46,xy,t(8;10)(q22;p11.2) ban bu yu yi li
chen dong hong ; wu rong zhen ; zhou ling ling ; zhou mei qing

..............page:198

46,x,t(x;14) ban ji fa bi jing yi li
wang xiao xu ; wu xia

..............page:232

yi li he bing t(9;22;16) (q34;q11;p13) de man xing sui xi bao bai xue bing
xu xiao feng ; zhang xue jin

..............page:247-248

nan xing han jian ran se ti yi chang 10 li ji qi jia xi
lai yan ying ; dai mei jie ; hu yan

..............page:244-246

Karyotypic analysis and prognosis for 41 patients with chronic myelomonocytic leukemia
LU Ying;YU Meng-xia;MU Qi-tian;WANG Qiong;CHEN Zhi-mei;LOU Ji-yu;JIN Jie

..............page:134-137

Identification and functional analysis of a novel missense mutation Ser250Phe underlying congenital coagulation factor Ⅶ deficiency
JIANG Ming-hua;WANG Zhao-yue;YU Zi-qiang;SU Jian;CAO Li-juan;ZHANG Wei

..............page:152-156

Mutation analysis for GJB2 and LOR genes in two patients with Vohwinkel syndrome
LIU Yu-mei;GAO Xin-jing;TIAN Xin;LI Xue-mei;ZHANG Xi-bao

..............page:203-206

47,xxy,inv(9) liang li ji jia xi fen xi
dong zuo ; li lei lei ; jiang yu zuo ; wu zuo ; du ri cheng ; liu zuo zhi

..............page:249-250

Analysis of a consanguineous pedigree featuring hereditary coagulation factor Ⅴ deficiency
xie yao sheng ; zhang yang ; zhu li qing ; jin yan hui ; yang li hong ; xie hai xiao ; wang ming shan ; yang xiao li

..............page:161-164

Analysis of clinical phenotypes of compound heterozygotes of Hb J-Bangkok and β-thalassemia
ZHAO Ying;SHANG Xuan;XIONG Fu;LIU Yan-hui;LOU Ji-wu;XU Xiang-min

..............page:148-151

Identification of a novel HLA allele HLA-B * 55 : 35
SONG Yong-hong;MAO Yong-xin;DONG Kui;CHEN Xiao-jian;GU Yan-xia;ZHU Chuan-fu

..............page:168-171

46,xy,t(x;13)(q26;q22) ban wu jing zheng yi li
li xiao li ; yang zuo zuo ; lan xin qiang

..............page:246

ran se ti ping heng yi wei ban bu liang yun chan si li
li lin ; tang zheng xiang ; zheng shu zuo ; zhang ji xia

..............page:251

Association of CASP3 gene single nucleotide polymorphisms with Kawasaki disease in Chinese children patients
peng zuo ; chen chang hui ; wu qing ; li bo ; liao jing ; luo cai dan ; hu xiao ping ; zheng zhi ; deng yan

..............page:180-184

46,xx nan xing xing fan zhuan zong he zheng yi li
zeng yan ; zhang tao ; zhang jian jun ; xu ping

..............page:253

Clinical and cytogenetic study of 6 cases of hematological disorders associated with 20q-and t(20 ; 21)(q11 ;q11) abnormalities
wu chun xiao ; pan jin lan ; chou hui ying ; xue yong quan ; chen su ning ; zhang jun ; wu ya fang ; shen juan ; bai shu zuo

..............page:138-142

Genetic characteristics and its prognostic significance for 217 adult patients with acute lymphoblastic leukemia
liu juan ; zhang run ; ge zuo ; lin zhong zuo ; liu ping ; chou hai rong ; zhu guang rong ; yang hui ; wu yu jie

..............page:129-133

jing shen fen lie zheng jia xi fa zuo xing shui bing yi li
li xi xia ; li shu yun ; li gui mei

..............page:248

cang bai qiu - hei zhi se su bian xing yi jia xi
xue xiao fan ; huang xiao qin ; wang fen ; xu er he ; jia jian ping

..............page:255-256

xran se ti yu chang ran se ti yi wei ban nan xing bu yu zheng er li
han rui zuo ; qi na na ; zhang xiang gai ; liu jie

..............page:171

Clinical features and genetic screening of hereditary hemorrhagic telangiectasia
LIU Chang;LV Yin-xia;YANG Xiao-dong;HUANG Yan-hua;LUO Yi;YI Qun

..............page:176-179

ran se ti jie gou yi chang xie dai zhe san li ji jia xi fen xi
li juan ; lu li ; chai xiao jing ; chen xuan ; zhao li

..............page:221

Detection and prenatal diagnosis for RS1 gene mutations in two Chinese families with X-linked juvenile retinoschisis
CHU Yan;FANG Dong;HOU Qiao-fang;WANG Li-ya;GUO Xi-rang;WANG Ying-tai;LIAO Shi-xiu

..............page:199-202

Analysis of 89 amniotic samples using fluorescent in situ hybridization
wei ping ; li yun xing ; zeng lan ; chen chun ; qin sheng fang ; wang xue yan ; xi na ; tang shu qin ; leng mei

..............page:214-217

Expression of connexin 43 in tongue carcinogenesis
FENG Yan;KANG Xiao-jie;LI Chun-hui;NIE Min-hai

..............page:237-239

Clinical and laboratory investigation of pericentric inv(9)(p22q34) with the der(9)t(9;22)(q34; q11) in Ph-positive leukemia
FAN Yi-sun;DING Shuang-shuang;PAN Jin-lan;XUE Yong-quan;HU Zhen-hua

..............page:157-160

Frequencies of 9 bp deletion of mitochondrial DNA in ethnic Miao, Buyi and Dong from Guizhou
he yan ; dan ke ren ; ren ling yan ; zhang zuo ; wang zuo juan ; xie yuan ; zhang zuo ; li lin jie ; guan zhi zhong

..............page:233-236

Sequence analysis of cisAB06, an ABO blood subtype
QI Xin;ZHANG Xu;LIU Xian-zhi;LI Jian-ping

..............page:172-175

Association of single nucleotide polymorphisms of CSPG2 and HSPG2 genes with intracranial aneurysm in ethnic Han Chinese population
ZHU Xiong;SHI Yi;LU Fang;HUANG Guang-fu;HU Li-juan

..............page:218-221

yang shui zhong 9 hao ran se ti bi jian dao wei de lin chuang xiao ying fen xi
chen xue jiao ; dai mei zhen ; liu jia mei ; zhang yang ; zhang wei guo

..............page:242-243

1230 fen yun zhong qi qi dai xue ran se ti he xing fen xi
lin xiu hua ; guo hui ; xiao wei wei ; zeng jun ; ou yang zhi bin ; liang zhuo jian ; li qi yun ; dai yong

..............page:240-241

1hao ran se ti bi jian dao wei liang li
li lei lei ; dong zuo ; wang rui xue ; yu yang ; liu zuo zhi ; gao jiu chun

..............page:250

Association between sequence variation of Furin gene and obesity in ethnic Kazakh from Xinjiang
wang hong mei ; shen yan ; hong jing ; zhou ling ; luo wen li ; wang xin ling ; zhu yi ; li nan fang

..............page:227-232