Li R - Search Results

1

TRAC variants associate with IgA nephropathy.

Li R, Xue C, Li C, Lou T, Tao Y, Li Y, Huang W, Zhang J, Leung JC, Lam MF, Vyse TJ, Lai KN, Wu C, Wang Y. Li R, et al. Among authors: li c, li y. J Am Soc Nephrol. 2009 Jun;20(6):1359-67. doi: 10.1681/ASN.2008080842. Epub 2009 May 21. J Am Soc Nephrol. 2009. PMID: 19470682 Free PMC article.

2

Age at onset-dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation of COL2A1.

Su P, Li R, Liu S, Zhou Y, Wang X, Patil N, Mow CS, Mason JC, Huang D, Wang Y. Su P, et al. Among authors: li r. Arthritis Rheum. 2008 Jun;58(6):1701-6. doi: 10.1002/art.23491. Arthritis Rheum. 2008. PMID: 18512791 Free article.

3

Variation in IGHMBP2 is not associated with IgA nephropathy in independent studies of UK Caucasian and Chinese Han patients.

Lou T, Zhang J, Gale DP, Rees AJ, Rhodes B, Feehally J, Li C, Li Y, Li R, Huang W, Hu B, Leung JC, Lam MF, Lai KN, Wang Y, Maxwell PH. Lou T, et al. Among authors: li c, li y, li r. Nephrol Dial Transplant. 2010 May;25(5):1547-54. doi: 10.1093/ndt/gfp661. Epub 2009 Dec 22. Nephrol Dial Transplant. 2010. PMID: 20031928

4

Association of -27T>C and its haplotype at the putative promoter for IgA-specific receptor gene with IgA nephropathy among the Chinese Han population.

Huang W, Gu H, Li R, Lou T, Zhang J, Shi W, Ye Z, Zhou Y, Li C, Xiong S, Li L, Wu C, Leung JC, Lam MF, Lai KN, Wang Y. Huang W, et al. Among authors: li c, li l, li r. Nephrol Dial Transplant. 2011 Aug;26(8):2537-44. doi: 10.1093/ndt/gfq765. Epub 2011 Jan 27. Nephrol Dial Transplant. 2011. PMID: 21273231

5

Rare inborn errors associated with chronic hepatitis B virus infection.

Zhao Q, Peng L, Huang W, Li Q, Pei Y, Yuan P, Zheng L, Zhang Y, Deng J, Zhong C, Hu B, Ding H, Fang W, Li R, Liao Q, Lin C, Deng W, Yan H, Hou J, Wu Q, Xu T, Liu J, Hu L, Peng T, Chen S, Lai KN, Yuen MF, Wang Y, Maini MK, Li C, Li M, Wang J, Zhang X, Sham PC, Wang J, Gao ZL, Wang Y. Zhao Q, et al. Among authors: li c, li m, li q, li r. Hepatology. 2012 Nov;56(5):1661-70. doi: 10.1002/hep.25850. Epub 2012 Oct 14. Hepatology. 2012. PMID: 22610944

6

Characterization of 26 deletion CNVs reveals the frequent occurrence of micro-mutations within the breakpoint-flanking regions and frequent repair of double-strand breaks by templated insertions derived from remote genomic regions.

Wang Y, Su P, Hu B, Zhu W, Li Q, Yuan P, Li J, Guan X, Li F, Jing X, Li R, Zhang Y, Férec C, Cooper DN, Wang J, Huang D, Chen JM, Wang Y. Wang Y, et al. Among authors: li f, li j, li q, li r. Hum Genet. 2015 Jun;134(6):589-603. doi: 10.1007/s00439-015-1539-4. Epub 2015 Mar 20. Hum Genet. 2015. PMID: 25792359

7

A novel mutation and a known mutation in the CLCN7 gene associated with relatively stable infantile malignant osteopetrosis in a Chinese patient.

Zeng B, Li R, Hu Y, Hu B, Zhao Q, Liu H, Yuan P, Wang Y. Zeng B, et al. Among authors: li r. Gene. 2016 Jan 15;576(1 Pt 1):176-81. doi: 10.1016/j.gene.2015.10.021. Epub 2015 Oct 22. Gene. 2016. PMID: 26477479 Clinical Trial.

8

[A consensus recommendation for the interpretation and reporting of copy number variation and regions of homozygosity in prenatal genetic diagnosis].

Liu W, Lu J, Zhang J, Li R, Lin S, Zhang Y, Wang Y, Yin A. Liu W, et al. Among authors: li r. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Jul 10;37(7):701-708. doi: 10.3760/cma.j.issn.1003-9406.2020.07.001. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020. PMID: 32619246 Chinese.

9

A novel splicing mutation of ARHGAP29 is associated with nonsyndromic cleft lip with or without cleft palate.

Yu Q, Deng Q, Fu F, Li R, Zhang W, Wan J, Yang X, Wang D, Li F, Wu S, Li J, Li D, Liao C. Yu Q, et al. Among authors: li f, li d, li j, li r. J Matern Fetal Neonatal Med. 2022 Jul;35(13):2499-2506. doi: 10.1080/14767058.2020.1786523. Epub 2020 Jul 22. J Matern Fetal Neonatal Med. 2022. PMID: 32698641

10

Single-cell RNA sequencing reveals cellular and molecular landscape of fetal cystic hygroma.

Fu F, Yang X, Li R, Li Y, Zhou H, Cheng K, Huang R, Wang Y, Guo F, Zhang L, Pan M, Han J, Zhen L, Li L, Lei T, Li D, Liao C. Fu F, et al. Among authors: li d, li y, li l, li r. BMC Med Genomics. 2024 Apr 22;17(1):96. doi: 10.1186/s12920-024-01859-x. BMC Med Genomics. 2024. PMID: 38650036 Free PMC article.

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