Journal of Peking University(Health Sciences) 2005 Issue 1 dna cuo pei xiu fu (dna mismatch repair,mmr)

dna cuo pei xiu fu (dna mismatch repair,mmr)

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..............page:112-封三

zeng jia de dian fen yang dan bai (ab42) he wan fa xing a er ci hai mo bing yu niao ji mei xing xue xian wei dan bai rong mei yuan ji huo yin zi ji yin zhong de dan ge he zuo suan duo tai xing xiang guan

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21 san ti yu mu qin nian ling guan xi de xin fa xian

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chang qi jin zhang dui ran se ti duan li de ying xiang

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ai zi bing zhi liao de xin xi wang

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ji yin biao da yu bu ru dong wu dna jian ji gc han liang de guan xi : tong ji xue yi yi he sheng wu xiang guan xing

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ren dna xiu fu ji yin hr24l/hrad17 xiao zheng jiao mu xi bao jian shu fen lie que xian biao xing
sun yan ; han yun ; zhu ying zuo

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The application of RNAi to the medical genetis
wu dan ; wu bai yan ; liang hong ye ;nanbert zhong

..............page:106-111

Molecular genetics of Charcot-Marie-Tooth disease
zhang yuan zhi ;nanbert zhong

..............page:100-105

Laminopathies -one gene, multiple diseases
song shu juan ; zhang yuan zhi ;nanbert zhong

..............page:96-99

Constitutional mosaic trisomy 21 and azoospermia: a case report
Guo-hui LU;Janice G.EDWARDS;Gail WHITMAN-ELIA;Tian-jian CHEN;Ed AMBRUZS;Robert G.BEST

..............page:94-95

Prenatal diagnostic testing for infantile and late-infantile neuronal ceroid lipofusinoses (NCL) using allele specific primer extension (ASPE)
Nanbert Zhong;Weina JU;Dorota MOROZIEWICZ;Anetta WRONSKA;Marilyn LI;Krystyna WISNIEWSKI;Susan Sklower BROOKS;Edmund JENKINS;W.Ted BROWN

..............page:20-25

Advanced molecular and cytogenetic technologies in birth defect diagnosis and prevention
Marilyn M.LI

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Medical genetics is playing an important role in the public health care in China Conference Report for The International Conference of Medical Genetics 2004, Beijing (ICMG 2004, Beijing)
Tian-jian CHEN;Nanbert Zhong

..............page:5-7

Lysosomal cystine augments apoptosis and causes the phenotype in cystinosis
Jess G.THOENE

..............page:8-9

Clinical cytogenetic diagnosis of therapy-related acute myeloid leukemia
Guo-hui LU

..............page:10-13

Heritability analysis of insulin sensitivity and the effect of age and sex: a twin study in Chinese aged 5-18
chen tian jiao ; ji cheng ye ; zuo zeng chang ; yang ye peng ; wang wei ; li hong juan ; hu yong hua

..............page:90-93

Associations of genetic polymorphisms in the EPHX1 gene and the GSTT1 gene with low birth weight in neonates
liang hong ye ; chen da fang ; zhang tao ; yang fan ; wang liu liu ; chen zuo ; wu bai yan

..............page:85-89

The role of biomarkers CK7, Vim and P53 in the development of subtypes of endometrial carcinoma
zeng zuo ; zhang hong ping ; liu xi shi ;nanbert zhong

..............page:81-84

Study of serum Hcy and polymorphisms of Hcy metabolic enzymes in 192 families affected by congenital heart disease
li yong ; cheng jun ; zhu wen li ; dao jing jing ; zuo li ying ; li meng yi ; li shu qin

..............page:75-80

Screening for the G1528C mutation in long chain fatty acid oxidation enzyme in Han nationality in Beijing population
zhu jin ming ; yang zi ; yu mei ; wang rong ; ye rong hua ; yang hui xia ; di gui rong ; wang zuo

..............page:72-74

Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease
zhang ru xu ; luo wei ; zi xiao hong ; xia kun ; cai fang ; xiao jian feng ; zhao guo hua ; zhang fu feng ; shen lu ; jiang zuo ; tang bei sha

..............page:68-71

Effectiveness of multiplex ligation-dependent probe amplification assay used for detecting deletion of Prader-Willi syndrome
Hong SHAO;Va LIP;Bai-Lin WU

..............page:64-67

Preliminary exploration of the influence factors on amplification of single cell duplex-nested PCR
zhong chang gao ; li lu zuo ; lu chang fu ; lin ge ; lu guang

..............page:58-63

Detection of homozygous and heterozygous SMN deletions of spinal muscular atrophy in a single assay with multiplex ligation-dependent probe amplification
Keith TOMASZEWICZ;Peter KANG;Bai-Lin WU

..............page:55-57

Development of a molecular screening test for hereditary hearing loss and genetic susceptibility to aminoglycoside toxicity for Chinese population
Xi-yu HE;Yue-ying WANG;Pu DAI;Jiang GU;Tian-jian CHEN

..............page:51-54

PAX6 mutation caused brain abnormalities in humans
song shu juan ; liu ying zhi ; cong ri chang ; zhang xiao yan ; yang zhen jiang ; li ling song

..............page:48-50

The establishment and clinical application of multicolor fluorescence in situ hybridization
li qing ; sun zuo fang ; chen xin jie ; kong shu ; zheng yu hong ; huang yan yi

..............page:45-47

Screening for congenital hypothyroidism in 106 224 neonates in Hunan Province
wu xi yan ; wang hua ; huang ding mei ; lei hua xiang ; hu rong ; ma li ; zou shan jing ; yu hong

..............page:42-44

Screening for chromosomal abnormalities using nuchal translucency measurement with materal serum biochemistry markers in first trimester
liao shi xiu ; huang fei fei ; yang yan li ; song zi bo ; wang ying tai ; wang zhao cai ; qu xian zhong ; chen han ping

..............page:39-41

Disorders of sexual development caused by luteinizing hormone receptor mutations
Wai-Yee CHAN

..............page:32-38

Molecular genetics of common mitochondrial DNA disorders
Lee-Jun C.Wong

..............page:26-31