Chinese Journal of Medical Genetics 2004 Issue 3 46,x,t(y;14)(q12;q22) ban yuan fa xing bu yu yi li

46,x,t(y;14)(q12;q22) ban yuan fa xing bu yu yi li
wang bai xian ; huang jian chu ; chen ping le ; zheng li xin

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

45,xy,t(13;14),t(1;12) yi li
li bin ; zhang li shuang

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

ran se ti yi chang he xing san li
song lan lin

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

46,xy,del(3)(p24) ban xian tian xing jia zhuang xian gong neng di xia yi li
li hua feng ; zhu cui ling ; wang fang hua ; fu guang zhao ; peng shu xin

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

t(10;16) ping heng yi wei ban duo fa xing zi gong ji liu yi li
wang rui yan ; zhang xue hong ; zuo xiao ling ; zhao jin zhu

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

nan xing chang ran se ti ping heng yi wei san li
tu xiang dong ; zhang bao zhen

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

6q+ zong he zheng yi li
wang rui zuo ; zhang xiao ping ; xu xiao zuo ; ma hong ying

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

47,xxy ke shi zong he zheng ban jing shen fen lie zheng he inv(7) yi li
zhao li ; xue yong quan ; pan jin lan ; wu ya fang

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

yi li 46,xx,t(3;18)(p23;q21) ping heng yi wei
li yu chen ; liu xia ; wang yong

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

Genetic polymorphisms of short tandem repeat loci D3S1358, D13S317, D5S818 from Nongqu Mongolia
liu shu ping ; su xiu lan ; bi li fu ; li cai ping ; qiu lin ; wang feng zuo

..............page:297-298

The polymorphism distributions of MICA and MICB microsatellite in Guangdong Han population
feng ming liang ; zhang jing zuo ; xie jun hua ; ji zuo ; lu qiong ; chen liang ; yang jian hao ; guo xiao jun

..............page:294-296

Study on the association between the polymorphism of HLA-DQA1 alleles and type 2 diabetes in Yunnan Han nationality
yang hong ying ; zuo wen lin ; yuan hui yun ; xu mian ; li jiang ; ren chun feng ; du juan

..............page:291-293

Alleles of HLA class Ⅱ DRB1 of patients with essential hypertension in Yunnan Hans
shao jian chun ; hu da chun ; chen ai hua ; wang zuo ; chen jun ; sun bao ming ; cai xue mei

..............page:286-287

Study on mixed lineage leukemia gene rearrangement in AML-M4/M5 by interphase fluorescence in situ hybridization
pan jin lan ; xue yong quan ; jiang hai yan ; li jian yong ; chen su ning ; wu ya fang

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

Polymorphism and multiplex amplification of 3 X-chromosome specific short tandem repeat loci
liu qiu ling ; lv de jian ; cui zuo

..............page:233-235

The mutation scanning of KCNQ1 gene for 31 long QT syndrome families
li ping ; li cui lan ; hu da yi ; liu wen ling ; qin xu guang ; li yun tian ; li zhi ming ; li lei

..............page:236-239

Study on STK15 gene abnormality and centrosomal amplification in laryngeal carcinoma
li ying hui ; li fu cai ; wang zuo ; zhao xu ; ye yan ; sun xing he ; sun kai lai

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

Application of the BglⅡ-BlnⅠ dosage test to gene diagnosis of facioscapulohumeral muscular dystrophy 1A gene
su quan xi ; zhang cheng ; xie you mei ; zeng ying ; liu xiao rong ; lu xi lin ; zhu yan zhen

..............page:245-247

Structural characterization of 5′-flanking regulatory region of DNA repair gene Rad51
yuan zuo ; ye jun ; dong zuo ; zheng shu

..............page:248-251

Relationship of variation 3057 G→A of exon 20 of leptin receptor gene to lipid metabolism and fat distribution of children with obesity
liu chang yun ; wang yong qin ; liu hong ying ; ji jia fen ; li wei hua ; bie hui ling ; li lan xiu

..............page:252-256

Progress in the research of aneuploidy genesis
yan jing ; hou yi ping

..............page:257-260

Study on mutations of exon 12 of the PAH gene in 127 phenylketonuria patients
qiu wen juan ; zhang ya fen ; ye jun ; han lian shu ; gu xue fan

..............page:261-263

New mutations of the 12th exon of CCM1 gene in Chinese patients with intracranial cavernous angiomas
xie zuo ; chen xian cheng ; fan yong feng ; ren hui min ; xia ying ; ji yao dong ; hu jun

..............page:264-266

A cytogenetic and molecular genetic study on microdeletion of AZF region on Y chromosome
xiao xiao su ; liu xiao yi ; wang yong qiang ; zhang yin han ; yang zuo hui ; liao li bin ; cai zhi ming

..............page:267-268

Detection of a new mutation (G1253T)of iduronate-2-sulfatase gene for the patient with mucopolysaccharidosis typeⅡ
zhang chun ya ; li lu zuo ; liu shang feng ; fu jun jiang ; lu guang

..............page:269-271

Long QT syndrome gene diagnosis by haplotype analysis
lian jiang fang ; cui chang zuo ; xue xiao lin ; huang chen ; cui han bin ; zhang hai zhu

..............page:272-273

Association between the polymorphism of β-fibrinogen gene -455G/A and ischemic stroke
dong qing lin ; zhang chen

..............page:274-276

Methylation and expression analysis of p16INK4a and RB genes in meningiomas
chen mi na ; mao qing ; liu yan hui ; mao bo zuo

..............page:277-279

Association of angiotensinogen gene M235T variant with hypertrophic cardiomyopathy
cai si yu ; shi yu ping ; yu feng ; xu geng

..............page:280-282

The relationship of angiotensin Ⅰ-converting enzyme gene polymorphism with diabetic retinopathy and diabetes myocardial infarction
wu shou shan ; guo qing mei ; liu ge ling ; zhang juan ; yue chen fu ; ning shu na ; zhao li na ; yu fang ; yi hong li

..............page:283-285

Mutational analysis of three Chinese pedigrees with adrenoleukodystrophy
huang liang zuo ; zeng jian ; yang bo sheng ; huang hui juan ; wu yu shui ; lan feng hua

..............page:193-197

Fine mapping of Smith-Fineman-Myers syndrome and exclusion of GPC3, GPCR2,MAT4 and GLUD2 as candidate genes
liu qi ji ; gong yao qin ; li jiang xia ; zhang xi yu ; gao gui min ; guo yi shou

..............page:198-202

Study on the mechansim of oocyte aneuploidy formation by multicolor fluorescence in situ hybridization
chen zuo ;liselotte mettler

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

Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease
zhang ru xu ; tang bei sha ; zi xiao hong ; luo wei ; xia kun ; pan qian ; long zhi gao ; hu zheng mao ; li xiao bo

..............page:207-210

Mutation detection of PKD2 gene in Chinese by denaturing high-performance liquid chromatograph
zhang dian yong ; sun tian mei ; zhang shu zhong ; tang bing ; dai bing ; zhang wei li ; mei chang lin

..............page:211-214

Two base deletion of the alpha (1,2) fucosyltransferase gene responsible for para-Bombay phenotype
zhu fa ming ; xu xian guo ; hong xiao zhen ; yan li xing

..............page:215-218

New polymorphism (IVS3-20 T→C) of the parkin gene associated with the early-onset Parkinson's disease in Chinese
zou hai qiang ; chen biao ; ma qiu lan ; li zuo ; yang jing fang ; feng xiu li ; dong xiu min ; li yong jie

..............page:219-223

Carrier detection of Duchenne/Becker muscular dystrophy in Chinese families by microsatellite analysis
huang wen ; zhang cheng ; xie you mei ; chen song lin ; zhang wei xi ; lu xi lin ; yao xiao li ; zeng ying

..............page:224-228

Additive effects of the variants in the β3-adrenergic-receptor and uncoupling protein-2 genes on obesity in Chinese
sui ri shi ; weng jian ping ; xiu ling ling ; wang jing ; yan jin hua

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

ran se ti yi chang san ge jia xi
shi hua jin ; zhang yue

..............page:285-285

46,xx,t(4;7) ban xin sheng er si wang yi li
liu guang xing ; han wei tian ; wang ge

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

46,xy,t(5;13)(p10;q10) ban sheng yu ji xing er yi li
shi li hua ; xie zhi yong ; hong shao en

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

741 li tai er qi xue ran se ti he xing fen xi
yi cui xing ; pan min ; liao can ; zhong yan fang ; wei jia xue ; li li xian

..............page:299-300

mccune-albright zong he zheng yi li
liu hong zuo ; xu ke hui

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

qiang zhi xing ji zhu yan yi jia xi
zhao ying ; wu yan ; wu ai zhu ; fu sheng miao ; cai jun hong

..............page:223-223

shi wang mo se su bian xing yi jia xi liu li
shang yu tang ; geng mei xiang ; di jun yin ; wang gui fang ; xu chun guang

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

gilbert zong he zheng yi jia xi si li
ma yu jie

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

emery-dreifuss ji ying yang bu liang zheng yi li
li guo liang ; long xiao yan ; zhang le

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

xin ji zhi mi hua bu quan yi jia xi
xia li ; li hua ; liu liang dong

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

yi li he bing niao beng zheng ban you ran se ti -7 de gu sui zeng sheng yi chang zong he zheng
li tian yu ; xue yong quan ; wu ya fang ; pan jin lan ; fu zuo zuo

..............page:302-303

ma fan zong he zheng yi jia xi
zhou cong yang

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

sry ji yin yin xing nan xing xing fan zhuan zong he zheng yi li
zuo dong hai ; wang ming he ; yang yuan ; lu yi ping ; li xiang

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

qing shao nian xing pu tao tang nao zuo zhi bing yi li
wu shao ling ; zhao xin dong ; yang zuo ; chen bing ; liu chang chang

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

zhong hua yi xue yi chuan xue za zhi dui " kuai su tong dao " fa biao wen zhang de yao qiu

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

guan yu " yi chuan zi yuan shou ji ji ying yong xue xi ban " bian geng ju ban shi jian de tong zhi

..............page:266-266

zhong hua yi xue yi chuan xue za zhi 2005 nian zheng ding qi shi

..............page:276-276

luan sheng jie mei tong huan gan dou zhuang he bian xing
liu shu ping

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

xian tian xing bai nei zhang yi jia xi 19 li
wang gui ling ; wang yan mei ; xu jin suo ; liu hai hong

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