Chinese Journal of Medical Genetics

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Top Articles

#	Title	Journal	Year	Citations
1	Two novel missense mutations of GATA4 gene in Chinese patients with sporadic congenital heart defects	Chinese Journal of Medical Genetics	2006	7
2	The G401D mutation of OPA1 causes autosomal dominant optic atrophy and hearing loss in a Chinese family	Chinese Journal of Medical Genetics	2006	6
3	A novel RPGR gene mutation in a Chinese family with X-linked dominant retinitis pigmentosa	Chinese Journal of Medical Genetics	2005	5
4	Quantitative studies on SMN1 gene and carrier testing of spinal muscular atrophy	Chinese Journal of Medical Genetics	2005	5
5	Analysis of SOX4 gene mutation in non-small cell lung cancer tissues	Chinese Journal of Medical Genetics	2007	5
6	Research on screening and identification of proteins interacting with ataxin-3	Chinese Journal of Medical Genetics	2005	4
7	Interaction between maternal periconceptional supplementation of folic acid and reduced folate carrier gene polymorphism of neural tube defects	Chinese Journal of Medical Genetics	2005	4
8	Analysis of single nucleotide polymorphisms and haplotypes in HOXC gene cluster within susceptible region 12q13 of simple congenital heart disease	Chinese Journal of Medical Genetics	2005	4
9	Association between apolipoprotein A5 - 1131T > C polymorphism and susceptibility of coronary artery disease in Chinese	Chinese Journal of Medical Genetics	2005	3
10	Novel GLA gene mutations in two Chinese families with classic Fabry disease	Chinese Journal of Medical Genetics	2005	3
11	Mutations of 15 short tandem repeat loci in Chinese population	Chinese Journal of Medical Genetics	2005	3
12	Denaturing high-performance liquid chromatography technique platform applied to screen G6PD deficient variants	Chinese Journal of Medical Genetics	2005	3
13	Association of bone metabolism related genes polymorphisms with the effect of raloxifene hydrochloride on bone mineral density and bone turnover markers in postmenopausal women with osteoporosis	Chinese Journal of Medical Genetics	2006	3
14	Detection of chromosome aberrations in Chinese children with autism using G-banding and BAC FISH	Chinese Journal of Medical Genetics	2005	2
15	Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly	Chinese Journal of Medical Genetics	2005	2
16	Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease	Chinese Journal of Medical Genetics	2005	2
17	Polymorphism of the D4Z4 locus associated with facioscapulohumeral muscular dystrophy 1A in Shanghai population	Chinese Journal of Medical Genetics	2005	2
18	Study on the relationship between G1057D variants of IRS2 gene and obese T2DM in Chinese Han subjects	Chinese Journal of Medical Genetics	2005	2
19	Effect of polymorphism of uncoupling protein 3 gene -55 (C>T) on the resting energy expenditure, total body fat and regional body fat in Chinese	Chinese Journal of Medical Genetics	2005	2
20	Association of 4G/5G polymorphism in PAI1 promoter with PAI1 level in deep vein thrombosis	Chinese Journal of Medical Genetics	2005	2
21	Average-12.9 chromosome imbalances coupling with 15 differential expression genes possibly involved in the carcinogenesis, progression and metastasis of supraglottic laryngeal squamous cell cancer	Chinese Journal of Medical Genetics	2006	2
22	Gene expression patterns in gastric cancer	Chinese Journal of Medical Genetics	2006	2
23	Novel partners of S100A8 identified in laryngeal cancer cell lines	Chinese Journal of Medical Genetics	2007	2
24	Screening for ZNF230 gene mutation and analysis of its correlation with azoospermia	Chinese Journal of Medical Genetics	2005	1
25	Analysis of germline mutations in the APC gene in familial adenomatous polyposis patients	Chinese Journal of Medical Genetics	2005	1
26	Genetic polymorphisms of four STR loci on chromosome X and their forensic applications in a Chinese Han population	Chinese Journal of Medical Genetics	2005	1
27	Effect of the interaction between paranoxonase 1 and ATP-binding cassette transporter 1 gene polymorphism on serum lipid level	Chinese Journal of Medical Genetics	2005	1
28	Rapid diagnosis of spinal muscular atrophy using denaturing high-performance liquid chromatography	Chinese Journal of Medical Genetics	2005	1
29	Molecular analysis of SLC26A4 gene in a Chinese deafness family	Chinese Journal of Medical Genetics	2005	1
30	The analysis for identifying large DNA fragment aberrations of MSH2 and MLH1 genes from familial colorectal cancer in China	Chinese Journal of Medical Genetics	2005	1
31	Impact of multidrug resistance 1 gene polymorphism on tacrolimus dose and concentration-to-dose ratio in Chinese liver transplantation recipients	Chinese Journal of Medical Genetics	2005	1
32	An analysis on transcriptional regulation activity of human XBP1 gene 5' upstream DNA sequences	Chinese Journal of Medical Genetics	2006	1
33	The molecular cytogenetic aberration analyzed by comparative genomic hybridization and its significance in diffuse large B-cell lymphoma	Chinese Journal of Medical Genetics	2006	1
34	Study on the genetic mutations of 17 alpha-hydroxylase/17,20-lyase deficiency in Chinese patients	Chinese Journal of Medical Genetics	2006	1
35	Associations between CYP11B2 gene -344T/C polymorphism and essential hypertension in the Han nationality in Shandong province	Chinese Journal of Medical Genetics	2004	0
36	Expression of a novel human retroviral NP9 gene and potential roles of its protein in systemic lupus erythematosus patients	Chinese Journal of Medical Genetics	2005	0
37	Mutation of acceptor splice site of the SEDL gene in X-linked spondyloepiphyseal dysplasia tarda causes the activation of cryptic splice site	Chinese Journal of Medical Genetics	2005	0
38	Expression of imprinted genes related to Beckwith-Wiedemann syndrome in human oocytes and preimplantation embryos	Chinese Journal of Medical Genetics	2005	0
39	Application of restriction fragment differential display-polymerase chain reaction in study on differential expression profiles of human diseases	Chinese Journal of Medical Genetics	2005	0
40	Effects of preimplantation embryos on expressions of DNA methyltransferase 1 in mouse oviduct epithelial cells	Chinese Journal of Medical Genetics	2005	0
41	Sequence analysis of the mitochondrial genome from a large family with maternally inherited nonsyndromic deafness	Chinese Journal of Medical Genetics	2005	0
42	A novel mutation in the FOXL2 gene in a Chinese family with blepharophimosis, ptosis, and epicanthus inversus syndrome	Chinese Journal of Medical Genetics	2005	0
43	Effect of caspase 9 related signaling molecules on the apoptosis of human vascular endothelial cell induced by homocysteine	Chinese Journal of Medical Genetics	2005	0
44	Closely linked polymorphic marker: successful application in preimplantation genetic diagnosis for beta-thalassemia	Chinese Journal of Medical Genetics	2005	0
45	Cloning of full-length cDNA sequence of a novel candidate gene related to mouse cleft palate	Chinese Journal of Medical Genetics	2005	0
46	A minidystrophin-EGFP fusion gene expressed in Cos-7 cells mediated by human source vector	Chinese Journal of Medical Genetics	2005	0
47	The construction, characterization and transfection of liposome- polycation-CDKN1B plasmid complexes	Chinese Journal of Medical Genetics	2005	0
48	Prenatal molecular diagnosis of adrenoleukodystrophy	Chinese Journal of Medical Genetics	2005	0
49	Application of real-time fluorescence quantitative PCR to rapid molecular detection of Down's syndrome	Chinese Journal of Medical Genetics	2005	0
50	A novel microsatellite within intron 8 in caspase10 gene in Chinese of Han nationality	Chinese Journal of Medical Genetics	2006	0

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