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Page 1
Semidominant GPNMB Mutations in Amyloidosis Cutis Dyschromica.
Onoufriadis A, Hsu CK, Eide CR, Nanda A, Orchard GE, Tomita K, Sheriff A, Scott W, Tierney C, Lee JYW, Gomaa NS, Desomchoke R, Lwin SM, Tu WT, Chen LY, Huang HY, Chao SC, Yu-Yun Lee J, Bare Y, Hayday T, Guy AL, Liu L, Lees C, Hirdler T, Lovell P, Xia L, Dayrit JF, Calonje E, Simpson MA, Tolar J, Parsons M, McGrath JA. Onoufriadis A, et al. Among authors: lee jyw. J Invest Dermatol. 2019 Dec;139(12):2550-2554.e9. doi: 10.1016/j.jid.2019.05.021. Epub 2019 Jun 19. J Invest Dermatol. 2019. PMID: 31226264 Free article. No abstract available.
Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.
Hsu CK, Romano MT, Nanda A, Rashidghamat E, Lee JYW, Huang HY, Songsantiphap C, Lee JY, Al-Ajmi H, Betz RC, Simpson MA, McGrath JA, Tziotzios C. Hsu CK, et al. Among authors: lee jy, lee jyw. J Invest Dermatol. 2017 May;137(5):1176-1179. doi: 10.1016/j.jid.2016.12.015. Epub 2017 Jan 10. J Invest Dermatol. 2017. PMID: 28087452 Free article. No abstract available.
Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.
Lee JYW, Hsu CK, Michael M, Nanda A, Liu L, McMillan JR, Pourreyron C, Takeichi T, Tolar J, Reid E, Hayday T, Blumen SC, Abu-Mouch S, Straussberg R, Basel-Vanagaite L, Barhum Y, Zouabi Y, Al-Ajmi H, Huang HY, Lin TC, Akiyama M, Lee JYY, McLean WHI, Simpson MA, Parsons M, McGrath JA. Lee JYW, et al. Among authors: lee jyy. Am J Hum Genet. 2017 Feb 2;100(2):364-370. doi: 10.1016/j.ajhg.2017.01.014. Am J Hum Genet. 2017. PMID: 28157540 Free PMC article.
Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia.
Takeichi T, Torrelo A, Lee JYW, Ohno Y, Lozano ML, Kihara A, Liu L, Yasuda Y, Ishikawa J, Murase T, Rodrigo AB, Fernández-Crehuet P, Toi Y, Mellerio J, Rivera J, Vicente V, Kelsell DP, Nishimura Y, Okuno Y, Kojima D, Ogawa Y, Sugiura K, Simpson MA, McLean WHI, Akiyama M, McGrath JA. Takeichi T, et al. Among authors: lee jyw. J Invest Dermatol. 2017 Nov;137(11):2344-2353. doi: 10.1016/j.jid.2017.06.028. Epub 2017 Jul 31. J Invest Dermatol. 2017. PMID: 28774589 Free PMC article.
21 results