Lian S - Search Results

1

A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.

Wei A, Wang Y, Long Y, Wang Y, Guo X, Zhou Z, Zhu W, Liu J, Bian X, Lian S, Li W. Wei A, et al. Among authors: lian s. J Invest Dermatol. 2010 Mar;130(3):716-24. doi: 10.1038/jid.2009.339. Epub 2009 Oct 29. J Invest Dermatol. 2010. PMID: 19865097 Free article.

2

Identification of a novel mutation in a Chinese family with X-linked ocular albinism.

Wang Y, Guo X, Wei A, Zhu W, Li W, Lian S. Wang Y, et al. Among authors: lian s. Eur J Ophthalmol. 2009 Jan-Feb;19(1):124-8. doi: 10.1177/112067210901900118. Eur J Ophthalmol. 2009. PMID: 19123159

3

Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.

Wei A, Yang X, Lian S, Li W. Wei A, et al. Among authors: lian s. J Dermatol Sci. 2011 May;62(2):124-7. doi: 10.1016/j.jdermsci.2011.02.009. Epub 2011 Mar 5. J Dermatol Sci. 2011. PMID: 21458243

4

A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.

Lin YY, Wei AH, Zhou ZY, Zhu W, He X, Lian S. Lin YY, et al. Among authors: lian s. Chin Med J (Engl). 2011 Oct;124(20):3358-61. Chin Med J (Engl). 2011. PMID: 22088535

5

Genetic analyses of Chinese patients with digenic oculocutaneous albinism.

Wei AH, Yang XM, Lian S, Li W. Wei AH, et al. Among authors: lian s. Chin Med J (Engl). 2013 Jan;126(2):226-30. Chin Med J (Engl). 2013. PMID: 23324268

6

A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.

Lin YY, Wei AH, He X, Zhou ZY, Lian S, Zhu W. Lin YY, et al. Among authors: lian s. Eur J Dermatol. 2014 Mar-Apr;24(2):168-73. doi: 10.1684/ejd.2014.2304. Eur J Dermatol. 2014. PMID: 24721949

7

A novel frameshift mutation of the NF1 gene in a Chinese pedigree with neurofibromatosis type 1.

Lin X, Chen H, Zhu W, Lian S. Lin X, et al. Among authors: lian s. Indian J Dermatol Venereol Leprol. 2017 Mar-Apr;83(2):231-233. doi: 10.4103/0378-6323.198457. Indian J Dermatol Venereol Leprol. 2017. PMID: 28164893 Free article. No abstract available.

8

Four novel mutations of TYR gene in Chinese OCA1 patients.

Wang Y, Guo X, Li W, Lian S. Wang Y, et al. Among authors: lian s. J Dermatol Sci. 2009 Jan;53(1):80-1. doi: 10.1016/j.jdermsci.2008.07.002. Epub 2008 Aug 12. J Dermatol Sci. 2009. PMID: 18701257 No abstract available.

9

The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene.

Wei A, Lian S, Wang L, Li W. Wei A, et al. Among authors: lian s. J Dermatol Sci. 2009 Nov;56(2):130-2. doi: 10.1016/j.jdermsci.2009.07.007. Epub 2009 Aug 7. J Dermatol Sci. 2009. PMID: 19665357 No abstract available.

10

Neurofibromatosis type 1 and X-linked ichthyosis in a patient with a novel frameshift mutation in the NF1 gene.

Lin X, Chen H, Zhu W, Lian S. Lin X, et al. Among authors: lian s. Eur J Dermatol. 2016 Oct 1;26(5):498-499. doi: 10.1684/ejd.2016.2830. Eur J Dermatol. 2016. PMID: 27350592 No abstract available.

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