Li W - Search Results

1

Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.

Kuht HJ, Maconachie GDE, Han J, Kessel L, van Genderen MM, McLean RJ, Hisaund M, Tu Z, Hertle RW, Gronskov K, Bai D, Wei A, Li W, Jiao Y, Smirnov V, Choi JH, Tobin MD, Sheth V, Purohit R, Dawar B, Girach A, Strul S, May L, Chen FK, Heath Jeffery RC, Aamir A, Sano R, Jin J, Brooks BP, Kohl S, Arveiler B, Montoliu L, Engle EC, Proudlock FA, Nishad G, Pani P, Varma G, Gottlob I, Thomas MG. Kuht HJ, et al. Among authors: li w. Ophthalmology. 2022 Jun;129(6):708-718. doi: 10.1016/j.ophtha.2022.02.010. Epub 2022 Feb 11. Ophthalmology. 2022. PMID: 35157951 Free PMC article.

2

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: li w. 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

3

Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis.

Wei AH, Li W. Wei AH, et al. Among authors: li w. Pigment Cell Melanoma Res. 2013 Mar;26(2):176-92. doi: 10.1111/pcmr.12051. Epub 2012 Dec 31. Pigment Cell Melanoma Res. 2013. PMID: 23171219 Review.

4

Genetic analyses of Chinese patients with digenic oculocutaneous albinism.

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

5

Increasing the complexity: new genes and new types of albinism.

Montoliu L, Grønskov K, Wei AH, Martínez-García M, Fernández A, Arveiler B, Morice-Picard F, Riazuddin S, Suzuki T, Ahmed ZM, Rosenberg T, Li W. Montoliu L, et al. Among authors: li w. Pigment Cell Melanoma Res. 2014 Jan;27(1):11-8. doi: 10.1111/pcmr.12167. Epub 2013 Oct 17. Pigment Cell Melanoma Res. 2014. PMID: 24066960 Review.

6

Clinical feature and waveform in infantile nystagmus syndrome in children with FRMD7 gene mutations.

Bai D, Shi W, Qi Z, Li W, Wei A, Cui Y, Li C, Li L. Bai D, et al. Among authors: li c, li w, li l. Sci China Life Sci. 2017 Jul;60(7):707-713. doi: 10.1007/s11427-017-9089-5. Epub 2017 Jun 14. Sci China Life Sci. 2017. PMID: 28623544

7

Identification of two Chinese oculocutaneous albinism type 6 patients and mutation updates of the SLC24A5 gene.

Zhang Y, Zhang Y, Liu T, Bai D, Yang X, Li W, Wei A. Zhang Y, et al. Among authors: li w. J Dermatol. 2019 Nov;46(11):1027-1030. doi: 10.1111/1346-8138.15065. Epub 2019 Sep 4. J Dermatol. 2019. PMID: 31486119

8

Hypopigmentation in Hermansky-Pudlak syndrome.

Wei AH, He X, Li W. Wei AH, et al. Among authors: li w. J Dermatol. 2013 May;40(5):325-9. doi: 10.1111/1346-8138.12025. J Dermatol. 2013. PMID: 23668540 Review.

9

Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.

Wei AH, Zang DJ, Zhang Z, Yang XM, Li W. Wei AH, et al. Among authors: li w. J Genet Genomics. 2015 Jun 20;42(6):279-86. doi: 10.1016/j.jgg.2015.05.001. Epub 2015 May 29. J Genet Genomics. 2015. PMID: 26165494

10

Application of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism.

Zhang YZ, Bai DY, Qi Z, Zhao SZ, Yang XM, Li W, Wei AH. Zhang YZ, et al. Among authors: li w. Chin Med J (Engl). 2019 Aug 20;132(16):2011-2012. doi: 10.1097/CM9.0000000000000356. Chin Med J (Engl). 2019. PMID: 31356463 Free PMC article. No abstract available.

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