Chinese Journal of Medical Genetics 2015 Issue 2 Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province

Mutations of phenylalanine hydroxylase gene detected in 20 patients with phenylketonuria from Yunnan Province
Tang Xinhua;,Chen Hong;,Zhang Yinhong;,Li Li;,Mi Hongying;,Xu Qingua;,Zhu Baosheng;

..............page:153-157

Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian
zhu wen bin ;, chen han qiang ;, su yue qing ;, zhao hong ;, wang zuo ;, zhou jin fu ;, chen yao ;, zeng ying lin ;, lin feng ;

..............page:158-162

Mitochondrial tRNAThr T15943C mutation may be a new position that affects the phenotypic expression of deafness associated 12s rRNA A1555G mutation
xiao hong li ;, he zhe yun ;, gao ying long ;, yang zuo ling ;, zheng jing ;, cai chao yang ;, zheng bin jiao ;, tang xiao zuo ;, guan min zuo ;

..............page:163-168

Application of whole-genome and high-resolution chromosome microarray analysis for the investigation of fetuses with ultrasound abnormalities
zhang yan ;, fu fang ;, li ru ;, xie gui e ;, han zuo ;, pan min ;, zhen li ;, yang zuo ;, li dong zhi ;

..............page:169-174

mian jian zuo xing ji ying yang bu liang yi jia xi
zhong jie ping ;, yang tian hua ;, xu yan ming ;

..............page:174

Establishment of induced pluripotent stem cell lines from human amniotic fluid cells with 1q21.1 microdeletion
Gong Yafei;,Li Ying;,Song Yanqin;,Sun Xiaofang;,Song Bing;,Sun Wen;,Chen Xinjie;

..............page:175-179

SNP microarray analysis of retention abortion chorionic villus
wang ling hong ;, ren chen chun ;, tian ying ;, wang wen jing ;, wang cheng zuo ;, chen shu qin ;, liang hong ;, zhang hai xia ;, zhang yue xiang ;

..............page:180-182

Detection of common deafness-related genes among non-syndromic deafness patients from Shanxi province
zhou yong an ;, yang hui fang ;, hao zi zuo ;, ma yun xia ;, zhang quan bin ;, li jiao ;, zhao xiao li ;, wang xiang ;, li xiang shao ;

..............page:183-186

Mutation analysis of GCDH gene in four patients with glutaric academia type Ⅰ
Liu Qi;,Chen Yiping;,Chen Wei;

..............page:187-191

Identification of proteins interacting with the circadian clock protein PER1 in tumors using bacterial two-hybrid system technique
zhang yu ;, yao you lin ;, jiang si yuan ;, lu yi lu ;, liu yun qiang ;, tao da chang ;, zhang si zhong ;, ma yong xin ;

..............page:192-197

Identification of mitochondrial DNA ND1 T3866C mutation in three ethnic Han Chinese families affected with Leber's hereditary optic neuropathy
Zhang Sai;,Gao Min;,Zhang Zengjun;,Liu Xiaoling;,Guan Minxin;

..............page:198-203

chang ran se ti xian xing yi chuan fei zong he zheng xing er long yi jia xi ba li
jiang hai ou ;, quan qing li ;, tang gen yun ;, li sha li ;, wang yi wang ;

..............page:203

Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing
Gong Zhuwen;,Yu Yongguo;,Zhang Qigang;,Gu Xuefan;

..............page:204-207

ran se ti yi chang he xing liang jia xi wu li
zhu xiao zuo ;, li lin ;

..............page:207

Analysis of CSF1R gene mutation in a Chinese family with hereditary diffuse leukoencephalopathy with neuroaxonal spheroids
cheng xin xin ;, shen zuo ;, zou hai qiang ;, shen zuo ;, gu xiao hua ;, huang dan qing ;, sun zuo ;, wang bian rong ;, tian zuo ;

..............page:208-212

Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy
Wang Lei;,Yu Juan;,Li Yiming;,Liu Xiuping;,Zhang Zhaoyun;

..............page:213-217

Analysis of MUT gene mutations in a patient with isolated methylmalonic acidemia
chen zhan ling ;, zhang xiu zuo ;, huang jian rong ;, wen peng qiang ;, wang guo bing ;, tang gen ;, zu ying ;, chen xiao wen ;, cui dong ;

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

Genetic analysis of a pedigree with hereditary coagulation factor Ⅶ deficiency
jin yan hui ;, wang ying yu ;, hao xiu ping ;, yang li hong ;, xie hai xiao ;, zhu li qing ;, yu fang you ;, yang xiao li ;, wang ming shan ;

..............page:222-225

Diagnosis and prenatal diagnosis to a family of hemoglobin variant with α-thalassemia
du li ;, wu zuo ;, qin dan qing ;, wang ji cheng ;, luo ming yong ;, guo hao ;, yuan teng long ;, zhang yan xia ;, wang zuo xia ;

..............page:226-228

Detection of chromosomal aneuploidies in spontaneous abortion samples by fluorescence in situ hybridization
Wei Ping;,Li Yunxing;,Chen Chun;,Zeng Lan;,Qin Shengfang;,Wang Xueyan;,Xi Na;

..............page:229-232

xin sheng er mu yuan xing 1q42 qter san ti zong he zheng yi li
guo cai qin ;, zhang min zuo ;, zhao li ;, zhao zuo ;, liu jun ;, xiao jian ping ;

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

Genetic analysis and counseling for two fetal cases with large de novo Yq deletions
Zhang Weiguo;,Zhang Weiqing;,Pan Yingqiu;,Yang Huanli;,Dai Meizhen;,Chen Xuejiao;,Zhang Yuan;

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

xran se ti bi jian dao wei yi jia xi
jiang yu zuo ;, yue fa gui ;, li lin lin ;, zhang yong sheng ;, geng dong feng ;, liu zuo zhi ;

..............page:236

Systematic genetic analysis for a case with duplication 9p
Zhang Jianlin;,Li Haibo;,Jiang Shenghua;,Li Hong;,Zhang Yuquan;

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

Identification of a novel mutation of COL2A1 gene in a Chinese family affected with spondyloepiphyseal dysplasia congenita
Li Hongzhuo;,Ji Aifang;,Ma Liang;,Wang Baozhu;,Li Yuan;,Cui Yun;

..............page:240-244

Association study between-765G ＞C and-1195G ＞A functional polymorphisms in the cyclooxygenase 2 gene and risk of preeclampsia
ren rong mei ;, gao zuo ;, fan ping ;, liu xing hui ;, liu rui ;, ma lei ;, chen yi hong ;, liu yu ;, bai huai ;

..............page:245-249

Molecular basis for an individual with rare p phenotype in P1Pk blood group system
ma kai rong ;, lan xiao fei ;, xu xian guo ;, hong xiao zhen ;, chen shu ;, liu zuo ;, ying yan ling ;, he ji ;, zhu fa ming ;

..............page:250-253

Association of HLA-DPA1 and-DPB1 polymorphisms with Posner-Schlossman syndrome among southern Chinese Han population
Zhao Jun;,Zhu Tianhui;,He Liumei;,Shen Xiaoli;,Wang Yanjun;,Deng Zhihui;

..............page:254-258

san li ran se ti yi chang he xing zhi bu liang yun chan shi fen xi
wang chun tao ;, dai hai bing ;, han yan long ;

..............page:258

Difference in brain surface area between first-episode familial and sporadic schizophrenia and its association with COMT gene polymorphisms
li yin fei ;, deng wei ;, wang qiang ;, li ming li ;, li na ;, lei wei ;, li ;, ma xiao hong ;, liu xie he ;

..............page:259-263

Association of VKORC1 gene-1639G/A polymorphism with atrial fibrillation in ethnic Uygurs and Hans from Xinjiang
wu pei song ;, meng si zuo ;, zhou xian hui ;, xu guo jun ;, li jin xin ;, zhang yu ;, sun ling ;, xing qiang ;, sun shuai ;

..............page:264-268

Study on the association of USP8 gene polymorphisms with male infertility in ethnic Han Chinese from Sichuan
Ding Min;,Li Lingxiao;,Ding Xianping;,Ren Huaying;,Zhong Rong;

..............page:269-273

Notch signaling in bone formation and related skeletal diseases
Ma Hongwei;,Wu Yaqiong;,Zhang Haifeng;

..............page:274-279

Progress in molecular genetic studies of retinitis pigmentosa
Li Youping;,Yang Zhenglin;

..............page:280-283

Advances in research on gastrointestinal cancer-associated long non-coding RNAs
Ge Jiaxin;,Pang Qianqian;,Guo Junming;

..............page:284-287

47 li ran se ti yi chang he xing de yi chuan xue ji lin chuang fen xi
sun wei jia ;, chen shao ke ;, liu tian sheng ;, fei dong mei ;, ou shan ;, huang hong zuo ;, ou yang lu ping ;

..............page:288-290

5150 li ju you chan qian zhen duan zhi zheng de yun fu de yang shui xi bao ran se ti he xing fen xi
ma guang juan ;, wang li xia ;, liu zuo ;, xue shu zuo ;, yang yan ;, liu ning ;, gu li na zi ;

..............page:291-292

3327 li sheng zhi yi chang huan zhe de xi bao yi chuan xue fen xi
wu yan hua ;, chen ying jian ;, bao hui ;, hu cheng jin ;

..............page:293-295

47,xx,del(y)(q11.23) yi li
tang jing long ;, wang li zuo ;, wu li li ;, rao wei qiang ;

..............page:295

wu chuang chan qian ji yin jian ce zai xing ran se ti fei zheng bei ti chan qian jian cha zhong de ying yong
chen xue jiao ;, sun ling ;, dai mei zhen ;, zhang wei guo ;, zhang yang ;, pan ying qiu ;, wu zhi qiang ;, shi wei wu ;

..............page:296-298

marfan zong he zheng yi jia xi
geng zuo ;

..............page:299

jia zu xing pi zhi ji zhen luan xing zhen chan zuo zuo yi jia xi
zuo zhi dong ;, xie fei ;, yin hou min ;, luo wei ;

..............page:300

ban t(9;22;22)(q34;q11.2;q13) fu za yi wei de man xing sui xi bao xing bai xue bing yi li
yao yao ;, wang zhi yuan ;, zuo jie ;, bian yue ping ;, xia dan dan ;, xu kai lin ;

..............page:301-302

xian tian xing shou zhi qu qu luan suo ji xing yi jia xi qi li
quan qing li ;, huang xue shuang ;, tang gen yun ;, li sha li ;, jiang hai ou ;

..............page:302

xing ran se ti yu chang ran se ti ping heng yi wei wu li
an na ;, li lei lei ;, geng dong feng ;, liu yan hong ;, zhu yue ying ;, liu zuo zhi ;

..............page:303-304

1hao ran se ti ping heng yi wei ban nan xing sheng jing zhang ai liu li
yue fa gui ;, jiang yu zuo ;, shi qing yang ;, luo li li ;, jing ji li ;, liu zuo zhi ;

..............page:305-306

zhong hua yi xue yi chuan xue za zhi gao yue

..............page:前插1