Qin W - Search Results

1

A novel insertion mutation in the FOXL2 gene is detected in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus.

Qian X, Shu A, Qin W, Xing Q, Gao J, Yang J, Feng G, He L. Qian X, et al. Among authors: qin w. Mutat Res. 2004 Oct 4;554(1-2):19-22. doi: 10.1016/j.mrfmmm.2004.02.014. Mutat Res. 2004. PMID: 15450400

2

A novel insertion mutation in spastin gene is the cause of spastic paraplegia in a Chinese family.

Qin W, Zhang T, Han J, Tang L, Li X, Feng G, Liu W, He L. Qin W, et al. J Neurol Sci. 2003 Jun 15;210(1-2):35-9. doi: 10.1016/s0022-510x(03)00011-x. J Neurol Sci. 2003. PMID: 12736085

3

A gene locus responsible for dyschromatosis symmetrica hereditaria (DSH) maps to chromosome 6q24.2-q25.2.

Xing QH, Wang MT, Chen XD, Feng GY, Ji HY, Yang JD, Gao JJ, Qin W, Qian XQ, Wu SN, He L. Xing QH, et al. Among authors: qin w. Am J Hum Genet. 2003 Aug;73(2):377-82. doi: 10.1086/377007. Epub 2003 Jun 12. Am J Hum Genet. 2003. PMID: 12815562 Free PMC article.

4

[Genetic analysis of a Chinese pedigree with congenital synpolydactyly].

Qin W, Shu AL, Xing QH, Yang MS, Feng GY, He L. Qin W, et al. Yi Chuan Xue Bao. 2003 Oct;30(10):973-7. Yi Chuan Xue Bao. 2003. PMID: 14669516 Chinese.

5

Identification of a novel ADAR mutation in a Chinese family with dyschromatosis symmetrica hereditaria (DSH).

Xing Q, Wang M, Chen X, Qian X, Qin W, Gao J, Wu S, Gao R, Feng G, He L. Xing Q, et al. Among authors: qin w. Arch Dermatol Res. 2005 Sep;297(3):139-42. doi: 10.1007/s00403-005-0589-1. Epub 2005 Sep 29. Arch Dermatol Res. 2005. PMID: 16133458

6

[Mutation analysis of 12S rRNA and tRNA-Ser(UCN) genes in a large Chinese family with maternally inherited nonsyndromic hearing loss by intermarriage].

Shu AL, Ji BH, Qin W, Feng GY, Nie YZ, Liu T, He L. Shu AL, et al. Among authors: qin w. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006 Jun;23(3):303-5. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2006. PMID: 16767669 Chinese.

7

A novel mutation of PAX3 in a Chinese family with Waardenburg syndrome.

Qin W, Shu A, Qian X, Gao J, Xing Q, Zhang J, Zheng Y, Li X, Li S, Feng G, He L. Qin W, et al. Mol Vis. 2006 Aug 28;12:1001-8. Mol Vis. 2006. PMID: 16971891 Free article.

8

[Genetic analysis of a Chinese pedigree with split hand and foot malformation].

Yang J, Gao LH, Shu AL, Qin W, Feng GY, He L. Yang J, et al. Among authors: qin w. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Dec;24(6):620-4. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007. PMID: 18067070 Chinese.

9

A novel locus of coralliform cataract mapped to chromosome 2p24-pter.

Gao L, Qin W, Cui H, Feng G, Liu P, Gao W, Ma L, Li P, He L, Fu S. Gao L, et al. Among authors: qin w. J Hum Genet. 2005;50(6):305-310. doi: 10.1007/s10038-005-0251-y. Epub 2005 Jun 3. J Hum Genet. 2005. PMID: 15933805

10

Evidence for a major susceptibility locus at 11q22.1-23.3 has been detected in a large Chinese family with pure grand mal epilepsy.

Yang MS, Wang XF, Qin W, Feng GY, He L. Yang MS, et al. Among authors: qin w. Neurosci Lett. 2003 Aug 7;346(3):133-6. doi: 10.1016/s0304-3940(03)00500-7. Neurosci Lett. 2003. PMID: 12853102

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