Guo LJ - Search Results

1

Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family.

Liu HY, Xiao JF, Huang J, Wang Y, Wu D, Li T, Wang HD, Guo LJ, Guo QN, Xiao H, Lyu X, Yu ZH. Liu HY, et al. Among authors: guo qn, guo lj. Chin Med J (Engl). 2017 Jan 5;130(1):104-107. doi: 10.4103/0366-6999.196568. Chin Med J (Engl). 2017. PMID: 28051032 Free PMC article. No abstract available.

2

DNA methylation study of fetus genome through a genome-wide analysis.

Wang HD, Hou QF, Guo QN, Li T, Wu D, Zhang XP, Chu Y, He M, Xiao H, Guo LJ, Yang K, Liao SX, Zhu BF. Wang HD, et al. Among authors: guo qn, guo lj. BMC Med Genomics. 2014 Apr 15;7:18. doi: 10.1186/1755-8794-7-18. BMC Med Genomics. 2014. PMID: 24731722 Free PMC article.

3

[Association of SPO11 and GST gene polymorphisms with idiopathic male infertility in ethnic Han Chinese].

Feng Z, Jing Z, Liu H, Liao S, Guo L, Mao C, Liu Y, Wu H, Gao J. Feng Z, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec;32(6):866-70. doi: 10.3760/cma.j.issn.1003-9406.2015.06.025. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015. PMID: 26663067 Chinese.

4

Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family.

Liu HY, Huang J, Wu D, Li T, Guo LJ, Guo QN, Wang HD, Wang RL, Wang Y. Liu HY, et al. Among authors: guo qn, guo lj. Chin Med J (Engl). 2016 Jan 5;129(1):88-91. doi: 10.4103/0366-6999.172600. Chin Med J (Engl). 2016. PMID: 26712438 Free PMC article. No abstract available.

5

Clinical and molecular cytogenetic analyses of four patients with imbalanced translocations.

Liu HY, Huang J, Li T, Wu D, Wang HD, Wang Y, Wang T, Guo LJ, Guo QN, Huang FF, Wang RL, Wang YT. Liu HY, et al. Among authors: guo qn, guo lj. Mol Cytogenet. 2016 Apr 19;9:31. doi: 10.1186/s13039-016-0244-x. eCollection 2016. Mol Cytogenet. 2016. PMID: 27099631 Free PMC article.

6

A novel MIP mutation in familial congenital nuclear cataracts.

Qin L, Guo L, Wang H, Li T, Lou G, Guo Q, Hou Q, Liu H, Liao S, Liu Z. Qin L, et al. Eur J Med Genet. 2016 Sep;59(9):488-91. doi: 10.1016/j.ejmg.2016.07.002. Epub 2016 Jul 22. Eur J Med Genet. 2016. PMID: 27456987

7

[Mutation analysis for a large Chinese family affected with MYH9-related thrombocytopenia].

Liu H, Li T, Wang H, Guo L, Wu D, Xiao H, Guo Q, Wang T. Liu H, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Oct;33(5):629-32. doi: 10.3760/cma.j.issn.1003-9406.2016.05.010. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016. PMID: 27577209 Chinese.

8

A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy.

Liu HY, Huang J, Wang RL, Wang Y, Guo LJ, Li T, Wu D, Wang HD, Guo QN, Dong DQ. Liu HY, et al. Among authors: guo qn, guo lj. J Chin Med Assoc. 2016 Nov;79(11):633-638. doi: 10.1016/j.jcma.2016.08.002. Epub 2016 Oct 6. J Chin Med Assoc. 2016. PMID: 27720678 Free article.

9

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

Wang L, Qin L, Li T, Liu H, Ma L, Li W, Wu D, Wang H, Guo Q, Guo L, Liao S. Wang L, et al. Mol Med Rep. 2018 Jan;17(1):172-178. doi: 10.3892/mmr.2017.7874. Epub 2017 Oct 25. Mol Med Rep. 2018. PMID: 29115496 Free PMC article.

10

Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population.

Qin L, Lou G, Guo L, Zhang Y, Wang H, Wang L, Hou Q, Liu H, Li X, Liao S. Qin L, et al. Sci Rep. 2018 Aug 24;8(1):12721. doi: 10.1038/s41598-018-30940-6. Sci Rep. 2018. PMID: 30143665 Free PMC article.

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