Guo R - Search Results

1

DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy.

Guo R, Zhu G, Zhu H, Ma R, Peng Y, Liang D, Wu L. Guo R, et al. J Hum Genet. 2015 Aug;60(8):435-42. doi: 10.1038/jhg.2015.43. Epub 2015 May 14. J Hum Genet. 2015. PMID: 25972034

2

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review.

Yang P, Tan H, Xia Y, Yu Q, Wei X, Guo R, Peng Y, Chen C, Li H, Mei L, Huang Y, Liang D, Wu L. Yang P, et al. Among authors: guo r. Am J Med Genet A. 2016 Jun;170(6):1613-21. doi: 10.1002/ajmg.a.37634. Epub 2016 Mar 30. Am J Med Genet A. 2016. PMID: 27028180 Review.

3

Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosome.

Ma R, Peng Y, Zhang Y, Xia Y, Tang G, Chang J, Guo R, Gui B, Huang Y, Chen C, Liang D, Wu L. Ma R, et al. Among authors: guo r. Mol Cytogenet. 2015 Feb 6;8:10. doi: 10.1186/s13039-015-0111-1. eCollection 2015. Mol Cytogenet. 2015. PMID: 25774219 Free PMC article.

4

Pachygyria, seizures, hypotonia, and growth retardation in a patient with an atypical 1.33Mb inherited microduplication at 22q11.23.

Chang J, Zhao L, Chen C, Peng Y, Xia Y, Tang G, Bai T, Zhang Y, Ma R, Guo R, Mei L, Liang D, Cao Q, Wu L. Chang J, et al. Among authors: guo r. Gene. 2015 Sep 10;569(1):46-50. doi: 10.1016/j.gene.2015.04.090. Epub 2015 Jun 20. Gene. 2015. PMID: 26099517

5

De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease.

Peng Y, Ma R, Zhou Y, Xia Y, Wen J, Zhang Y, Guo R, Li H, Pan Q, Zhang R, Tang C, Liang D, Wu L. Peng Y, et al. Among authors: guo r. Mol Cytogenet. 2015 Nov 9;8:88. doi: 10.1186/s13039-015-0191-y. eCollection 2015. Mol Cytogenet. 2015. PMID: 26557157 Free PMC article.

6

[Genetic diagnosis and analysis for two cases of ring chromosome 22].

Peng Y, Tang G, Zhang R, Zhang Y, Xia Y, Ma R, Guo R, Wu L. Peng Y, et al. Among authors: guo r. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Aug;33(4):494-7. doi: 10.3760/cma.j.issn.1003-9406.2016.04.014. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID: 27455005 Chinese.

7

A clear bias in parental origin of de novo pathogenic CNVs related to intellectual disability, developmental delay and multiple congenital anomalies.

Ma R, Deng L, Xia Y, Wei X, Cao Y, Guo R, Zhang R, Guo J, Liang D, Wu L. Ma R, et al. Among authors: guo r, guo j. Sci Rep. 2017 Mar 21;7:44446. doi: 10.1038/srep44446. Sci Rep. 2017. PMID: 28322228 Free PMC article.

8

[Molecular diagnosis and functional study of a pedigree affected with Lubs X-linked mental retardation syndrome].

Jiang C, Pan N, Lyu W, Peng Y, Liu J, Guo R, Chang J, Liang D, Wu L. Jiang C, et al. Among authors: guo r. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Apr 10;36(4):340-343. doi: 10.3760/cma.j.issn.1003-9406.2019.04.012. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019. PMID: 30950021 Chinese.

9

Noninvasive prenatal testing for Wilson disease by use of circulating single-molecule amplification and resequencing technology (cSMART).

Lv W, Wei X, Guo R, Liu Q, Zheng Y, Chang J, Bai T, Li H, Zhang J, Song Z, Cram DS, Liang D, Wu L. Lv W, et al. Among authors: guo r. Clin Chem. 2015 Jan;61(1):172-81. doi: 10.1373/clinchem.2014.229328. Epub 2014 Nov 6. Clin Chem. 2015. PMID: 25376582

10

[A case of mental retardation caused by 6p22.3 microdeletion].

Zhang R, Peng Y, Guo RL. Zhang R, et al. Among authors: guo rl. Zhonghua Er Ke Za Zhi. 2016 Nov 2;54(11):866-867. doi: 10.3760/cma.j.issn.0578-1310.2016.11.019. Zhonghua Er Ke Za Zhi. 2016. PMID: 27806801 Chinese. No abstract available.

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