Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 12 of 79 entries
Sorted by: Best Match Show Resources per page
[Distribution of six STR loci in Bai ethnic group in Yunnan province of China].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Zou P, Yang Y, Li D, Zou L, Shen B.
PMID: 10359866
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Jun;16(3):160-3.

OBJECTIVE: This study was conducted to make known the distribution of six STR loci in Bai ethnic group in Yunnan province.METHODS: DAN extraction from blood samples (126 in number ) and multiplex amplification of CSF1PO,TPOX, TH01,F13A01, FESFPS and vWA...

Cite
Zou P, Yang Y, Li D, et al. [Distribution of six STR loci in Bai ethnic group in Yunnan province of China]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999;16(3):160-3
Zou, P., Yang, Y., Li, D., Zou, L., & Shen, B. (1999). [Distribution of six STR loci in Bai ethnic group in Yunnan province of China]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 16(3), 160-3.
Zou, P, et al. "[Distribution of six STR loci in Bai ethnic group in Yunnan province of China]." Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 16,3 (1999): 160-3.
Zou P, Yang Y, Li D, Zou L, Shen B. [Distribution of six STR loci in Bai ethnic group in Yunnan province of China]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Jun;16(3):160-3. Chinese. PMID: 10359866.
Copy Download .nbib Format: NLM
[Polymorphism of HLA-DRB1, DQB1 in the Hans of north China].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Ge J, Li W, Shan X, Sun Y, Yuan Q, Zhang Z, Zhi H.
PMID: 10200357
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr 10;16(2):74-76.

OBJECTIVE: To understand polymorphism of HLA-DRB1, DQB1 in the Hans of north China and obtain more comprehensive and accurate data on genetics at DNA level. METHODS: Polymerase chain reaction-sequence specific primers (PCR-SSP) were used to determine HLA-DRB1, DQB1 alleles...

Cite
Ge J, Li W, Shan X, et al. [Polymorphism of HLA-DRB1, DQB1 in the Hans of north China]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999;16(2):74-76
Ge, J., Li, W., Shan, X., Sun, Y., Yuan, Q., Zhang, Z., & Zhi, H. (1999). [Polymorphism of HLA-DRB1, DQB1 in the Hans of north China]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 16(2), 74-76.
Ge, et al. "[Polymorphism of HLA-DRB1, DQB1 in the Hans of north China]." Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 16,2 (1999): 74-76.
Ge J, Li W, Shan X, Sun Y, Yuan Q, Zhang Z, Zhi H. [Polymorphism of HLA-DRB1, DQB1 in the Hans of north China]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr 10;16(2):74-76. Chinese. PMID: 10200357.
Copy Download .nbib Format: NLM
[Genetic linkage of polymorphisms of type I angiotensin II receptor gene to Chinese Han hypertension].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Cui Z, Hu A, Hui R, Liu L, Ren X, Zhou X.
PMID: 10200359
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr 10;16(2):81-84.

OBJECTIVE: To observe the CA repeat polymorphism of the type I angiotensin II receptor gene on Chinese Han people, and evaluate the genetic linking to hypertension. METHODS: The CA repeat polymorphism at 3'-flanking region of AT1R gene was studied...

Cite
Cui Z, Hu A, Hui R, et al. [Genetic linkage of polymorphisms of type I angiotensin II receptor gene to Chinese Han hypertension]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999;16(2):81-84
Cui, Z., Hu, A., Hui, R., Liu, L., Ren, X., & Zhou, X. (1999). [Genetic linkage of polymorphisms of type I angiotensin II receptor gene to Chinese Han hypertension]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 16(2), 81-84.
Cui, et al. "[Genetic linkage of polymorphisms of type I angiotensin II receptor gene to Chinese Han hypertension]." Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 16,2 (1999): 81-84.
Cui Z, Hu A, Hui R, Liu L, Ren X, Zhou X. [Genetic linkage of polymorphisms of type I angiotensin II receptor gene to Chinese Han hypertension]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr 10;16(2):81-84. Chinese. PMID: 10200359.
Copy Download .nbib Format: NLM
[HLA-DQA1 genes involved in the genetic susceptibility to duodenal ulcer in Wuhan Hans].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Deng C, Du Y, Guo S, Hou W, Huang M, Lu D.
PMID: 10200360
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr 10;16(2):85-87.

OBJECTIVE: To study the genetic susceptibility of HLA-DQA1 alleles to duodenal ulcer in Chinese Hans from Wuhan and its nearby regions. METHODS: Seventy patients with duodenal ulcer and fifty healthy controls were examined for HLA-DQA1 genotypes. HLA-DQA1 typing was...

Cite
Deng C, Du Y, Guo S, et al. [HLA-DQA1 genes involved in the genetic susceptibility to duodenal ulcer in Wuhan Hans]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999;16(2):85-87
Deng, C., Du, Y., Guo, S., Hou, W., Huang, M., & Lu, D. (1999). [HLA-DQA1 genes involved in the genetic susceptibility to duodenal ulcer in Wuhan Hans]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 16(2), 85-87.
Deng, et al. "[HLA-DQA1 genes involved in the genetic susceptibility to duodenal ulcer in Wuhan Hans]." Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 16,2 (1999): 85-87.
Deng C, Du Y, Guo S, Hou W, Huang M, Lu D. [HLA-DQA1 genes involved in the genetic susceptibility to duodenal ulcer in Wuhan Hans]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr 10;16(2):85-87. Chinese. PMID: 10200360.
Copy Download .nbib Format: NLM
[Study on mutation of exon 8 of Wilson's disease gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Liang X, Ma S, Xu P.
PMID: 10200361
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr 10;16(2):88-90.

OBJECTIVE: To analyze the frequency of mutation in exon 8 of Wilson's disease (WD) gene in Chinese people. METHODS: Screening for ATP7B gene mutation was conducted in 45 WD patients£® Mobility shift of exon 8 was analyzed by SSCP....

Cite
Liang X, Ma S, Xu P. [Study on mutation of exon 8 of Wilson's disease gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999;16(2):88-90
Liang, X., Ma, S., & Xu, P. (1999). [Study on mutation of exon 8 of Wilson's disease gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 16(2), 88-90.
Liang, et al. "[Study on mutation of exon 8 of Wilson's disease gene]." Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 16,2 (1999): 88-90.
Liang X, Ma S, Xu P. [Study on mutation of exon 8 of Wilson's disease gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr 10;16(2):88-90. Chinese. PMID: 10200361.
Copy Download .nbib Format: NLM
[Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Lin M, Murong S, Wang N, Wu Z.
PMID: 10200362
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr 10;16(2):91-93.

OBJECTIVE: To investigate the characteristics of mutations of exons 14 and 18 of Wilson's disease (WD) gene in Chinese patients. METHODS: The subjects of study included 60 unrelated normal controls and 44 unrelated WD patients. Genomic DNA was prepared...

Cite
Lin M, Murong S, Wang N, et al. [Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999;16(2):91-93
Lin, M., Murong, S., Wang, N., & Wu, Z. (1999). [Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 16(2), 91-93.
Lin, et al. "[Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients]." Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 16,2 (1999): 91-93.
Lin M, Murong S, Wang N, Wu Z. [Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr 10;16(2):91-93. Chinese. PMID: 10200362.
Copy Download .nbib Format: NLM
[Detection of ABO genotypes by simultaneous PCR-RFLP method].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Yang Q, Zhu C.
PMID: 10200367
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr 10;16(2):110-112.

OBJECTIVE: To study human ABO genotyping by means of multiplex PCR and restriction fragment length polymorphism. METHODS: Two specific fragments of ABO gene were simultaneously amplified in a single tube, and then the double restriction digestion with RE Kpn...

Cite
Yang Q, Zhu C. [Detection of ABO genotypes by simultaneous PCR-RFLP method]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999;16(2):110-112
Yang, Q., & Zhu, C. (1999). [Detection of ABO genotypes by simultaneous PCR-RFLP method]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 16(2), 110-112.
Yang, and Zhu. "[Detection of ABO genotypes by simultaneous PCR-RFLP method]." Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 16,2 (1999): 110-112.
Yang Q, Zhu C. [Detection of ABO genotypes by simultaneous PCR-RFLP method]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1999 Apr 10;16(2):110-112. Chinese. PMID: 10200367.
Copy Download .nbib Format: NLM
[Economic burden of Down syndrome patients and psychological and social discrimination to female caregivers in Changsha, China].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Wang N, Zhou S, Wang S, Kuang Y, Zu Y, Xie R, Yang M, Peng H, Liu J, He J.
PMID: 34964958
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):11-15. doi: 10.3760/cma.j.cn511374-20210512-00404.

OBJECTIVE: To estimate the social and economic burden of Downs syndrome for patients and their families residing in Changsha, China.METHODS: An 160-item self-administered questionnaire was designed and distributed to the primary caregivers of the patients in March 2020. A...

Cite
Wang N, Zhou S, Wang S, et al. [Economic burden of Down syndrome patients and psychological and social discrimination to female caregivers in Changsha, China]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022;39(1):11-15doi: 10.3760/cma.j.cn511374-20210512-00404.
Wang, N., Zhou, S., Wang, S., Kuang, Y., Zu, Y., Xie, R., Yang, M., Peng, H., Liu, J., & He, J. (2022). [Economic burden of Down syndrome patients and psychological and social discrimination to female caregivers in Changsha, China]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 39(1), 11-15. https://doi.org/10.3760/cma.j.cn511374-20210512-00404
Wang, Nan, et al. "[Economic burden of Down syndrome patients and psychological and social discrimination to female caregivers in Changsha, China]." Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 39,1 (2022): 11-15. doi: https://doi.org/10.3760/cma.j.cn511374-20210512-00404
Wang N, Zhou S, Wang S, Kuang Y, Zu Y, Xie R, Yang M, Peng H, Liu J, He J. [Economic burden of Down syndrome patients and psychological and social discrimination to female caregivers in Changsha, China]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):11-15. doi: 10.3760/cma.j.cn511374-20210512-00404. Chinese. PMID: 34964958.
Copy Download .nbib Format: NLM
[Analysis of GCDH gene variant in a child with Glutaric aciduria type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Yin H, Xue Q, Zhu S.
PMID: 34964964
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):39-42. doi: 10.3760/cma.j.cn511374-20200705-00494.

OBJECTIVE: To explore the genetic basis for a neonate affected with Glutaric aciduria type I (GA-I).METHODS: Targeted capture and high-throughput sequencing was carried out for the proband and her parents. Candidate variants were verified by Sanger sequencing.RESULTS: The proband...

Cite
Yin H, Xue Q, Zhu S. [Analysis of GCDH gene variant in a child with Glutaric aciduria type I]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022;39(1):39-42doi: 10.3760/cma.j.cn511374-20200705-00494.
Yin, H., Xue, Q., & Zhu, S. (2022). [Analysis of GCDH gene variant in a child with Glutaric aciduria type I]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 39(1), 39-42. https://doi.org/10.3760/cma.j.cn511374-20200705-00494
Yin, Hanjun, et al. "[Analysis of GCDH gene variant in a child with Glutaric aciduria type I]." Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 39,1 (2022): 39-42. doi: https://doi.org/10.3760/cma.j.cn511374-20200705-00494
Yin H, Xue Q, Zhu S. [Analysis of GCDH gene variant in a child with Glutaric aciduria type I]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):39-42. doi: 10.3760/cma.j.cn511374-20200705-00494. Chinese. PMID: 34964964.
Copy Download .nbib Format: NLM
[Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Liu W, Li F, He Z, Ai R.
PMID: 34964971
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):68-71. doi: 10.3760/cma.j.cn511374-20201013-00716.

OBJECTIVE: To analyze variants of TSC1 and TSC2 genes in a Chinese patient with tuberous sclerosis complex (TSC).METHODS: Peripheral blood samples were collected from the patient and her parents with informed consent. Following extraction of genomic DNA, potential variants...

Cite
Liu W, Li F, He Z, et al. [Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022;39(1):68-71doi: 10.3760/cma.j.cn511374-20201013-00716.
Liu, W., Li, F., He, Z., & Ai, R. (2022). [Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 39(1), 68-71. https://doi.org/10.3760/cma.j.cn511374-20201013-00716
Liu, Weiliang, et al. "[Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation]." Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 39,1 (2022): 68-71. doi: https://doi.org/10.3760/cma.j.cn511374-20201013-00716
Liu W, Li F, He Z, Ai R. [Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):68-71. doi: 10.3760/cma.j.cn511374-20201013-00716. Chinese. PMID: 34964971.
Copy Download .nbib Format: NLM
[Genetic analysis of a case with 2q37 microdeletion syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Lian X, Zhang X, Huang M, Lin J, Zeng J.
PMID: 34964974
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):81-84. doi: 10.3760/cma.j.cn511374-20201020-00730.

OBJECTIVE: To diagnose and fine map a deletion in chromosome region 2q37.METHODS: G-banded chromosomal karyotyping, multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism array (SNP-array), and fluorescence in situ hybridization (FISH) were carried out in conjunct for the analysis.RESULTS:...

Cite
Lian X, Zhang X, Huang M, et al. [Genetic analysis of a case with 2q37 microdeletion syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022;39(1):81-84doi: 10.3760/cma.j.cn511374-20201020-00730.
Lian, X., Zhang, X., Huang, M., Lin, J., & Zeng, J. (2022). [Genetic analysis of a case with 2q37 microdeletion syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 39(1), 81-84. https://doi.org/10.3760/cma.j.cn511374-20201020-00730
Lian, Xiaohui, et al. "[Genetic analysis of a case with 2q37 microdeletion syndrome]." Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 39,1 (2022): 81-84. doi: https://doi.org/10.3760/cma.j.cn511374-20201020-00730
Lian X, Zhang X, Huang M, Lin J, Zeng J. [Genetic analysis of a case with 2q37 microdeletion syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):81-84. doi: 10.3760/cma.j.cn511374-20201020-00730. Chinese. PMID: 34964974.
Copy Download .nbib Format: NLM
[Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Chen J, Hu C, Ren L, Li J, Lei T, Chen S, Zhao P.
PMID: 34964966
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):48-51. doi: 10.3760/cma.j.cn511374-20210305-00191.

OBJECTIVE: To analyze the clinical phenotype and genetic characteristics of a child with Perlman syndrome.METHODS: Genomic DNA was extracted from peripheral blood samples from the patient and her parents. Whole exome sequencing (WES) was carried out to detect potential...

Cite
Chen J, Hu C, Ren L, et al. [Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022;39(1):48-51doi: 10.3760/cma.j.cn511374-20210305-00191.
Chen, J., Hu, C., Ren, L., Li, J., Lei, T., Chen, S., & Zhao, P. (2022). [Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 39(1), 48-51. https://doi.org/10.3760/cma.j.cn511374-20210305-00191
Chen, Jing, et al. "[Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene]." Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics vol. 39,1 (2022): 48-51. doi: https://doi.org/10.3760/cma.j.cn511374-20210305-00191
Chen J, Hu C, Ren L, Li J, Lei T, Chen S, Zhao P. [Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Jan 10;39(1):48-51. doi: 10.3760/cma.j.cn511374-20210305-00191. Chinese. PMID: 34964966.
Copy Download .nbib Format: NLM
Showing 1 to 12 of 79 entries