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Page 1
Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis.
Malki L, Sarig O, Cesarato N, Mohamad J, Canter T, Assaf S, Pavlovsky M, Vodo D, Anis Y, Bihari O, Malovitski K, Gat A, Thiele H, White BEP, Samuelov L, Nanda A, Paller AS, Betz RC, Sprecher E. Malki L, et al. Among authors: paller as. Genet Med. 2020 Jul;22(7):1227-1234. doi: 10.1038/s41436-020-0794-5. Epub 2020 Apr 27. Genet Med. 2020. PMID: 32336749 Free PMC article.
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.
Wen Y, Liu Y, Xu Y, Zhao Y, Hua R, Wang K, Sun M, Li Y, Yang S, Zhang XJ, Kruse R, Cichon S, Betz RC, Nöthen MM, van Steensel MA, van Geel M, Steijlen PM, Hohl D, Huber M, Dunnill GS, Kennedy C, Messenger A, Munro CS, Terrinoni A, Hovnanian A, Bodemer C, de Prost Y, Paller AS, Irvine AD, Sinclair R, Green J, Shang D, Liu Q, Luo Y, Jiang L, Chen HD, Lo WH, McLean WH, He CD, Zhang X. Wen Y, et al. Among authors: paller as. Nat Genet. 2009 Feb;41(2):228-33. doi: 10.1038/ng.276. Epub 2009 Jan 4. Nat Genet. 2009. PMID: 19122663
Epidermolytic Ichthyosis Sine Epidermolysis.
Eskin-Schwartz M, Drozhdina M, Sarig O, Gat A, Jackman T, Isakov O, Shomron N, Samuelov L, Malchin N, Peled A, Vodo D, Hovnanian A, Ruzicka T, Koshkin S, Harmon RM, Koetsier JL, Green KJ, Paller AS, Sprecher E. Eskin-Schwartz M, et al. Among authors: paller as. Am J Dermatopathol. 2017 Jun;39(6):440-444. doi: 10.1097/DAD.0000000000000674. Am J Dermatopathol. 2017. PMID: 28121638 Free PMC article.
Multidisciplinary care of epidermolysis bullosa during the COVID-19 pandemic-Consensus: Recommendations by an international panel of experts.
Murrell DF, Lucky AW, Salas-Alanis JC, Woodley DT, Palisson F, Natsuga K, Nikolic M, Ramirez-Quizon M, Paller AS, Lara-Corrales I, Barzegar MA, Sprecher E, Has C, Laimer M, Bruckner AL, Bilgic A, Nanda A, Purvis D, Hovnanian A, Murat-Sušić S, Bauer J, Kern JS, Bodemer C, Martin LK, Mellerio J, Kowaleski C, Robertson SJ, Bruckner-Tuderman L, Pope E, Marinkovich MP, Tang JY, Su J, Uitto J, Eichenfield LF, Teng J, Aan Koh MJ, Lee SE, Khuu P, Rishel HI, Sommerlund M, Wiss K, Hsu CK, Chiu TW, Martinez AE. Murrell DF, et al. Among authors: paller as. J Am Acad Dermatol. 2020 Oct;83(4):1222-1224. doi: 10.1016/j.jaad.2020.06.1023. Epub 2020 Jul 16. J Am Acad Dermatol. 2020. PMID: 32682031 Free PMC article.
Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, Kayserili H, Yuksel-Apak M, Paller AS, Norton K, Teebi AS, Grum-Tokars V, Martin GS, Davis GE, Glucksman MJ, Martignetti JA. Dowling O, et al. Among authors: paller as. Am J Hum Genet. 2003 Oct;73(4):957-66. doi: 10.1086/378781. Epub 2003 Sep 12. Am J Hum Genet. 2003. PMID: 12973667 Free PMC article.
Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.
Boyden LM, Vincent NG, Zhou J, Hu R, Craiglow BG, Bayliss SJ, Rosman IS, Lucky AW, Diaz LA, Goldsmith LA, Paller AS, Lifton RP, Baserga SJ, Choate KA. Boyden LM, et al. Among authors: paller as. Am J Hum Genet. 2017 Jun 1;100(6):978-984. doi: 10.1016/j.ajhg.2017.05.003. Am J Hum Genet. 2017. PMID: 28575652 Free PMC article.
The blood proteomic signature of early-onset pediatric atopic dermatitis shows systemic inflammation and is distinct from adult long-standing disease.
Brunner PM, He H, Pavel AB, Czarnowicki T, Lefferdink R, Erickson T, Canter T, Puar N, Rangel SM, Malik K, Estrada Y, Krueger JG, Guttman-Yassky E, Paller AS. Brunner PM, et al. Among authors: paller as. J Am Acad Dermatol. 2019 Aug;81(2):510-519. doi: 10.1016/j.jaad.2019.04.036. Epub 2019 Apr 19. J Am Acad Dermatol. 2019. PMID: 31009665
Use of Tape Strips to Detect Immune and Barrier Abnormalities in the Skin of Children With Early-Onset Atopic Dermatitis.
Guttman-Yassky E, Diaz A, Pavel AB, Fernandes M, Lefferdink R, Erickson T, Canter T, Rangel S, Peng X, Li R, Estrada Y, Xu H, Krueger JG, Paller AS. Guttman-Yassky E, et al. Among authors: paller as. JAMA Dermatol. 2019 Dec 1;155(12):1358-1370. doi: 10.1001/jamadermatol.2019.2983. JAMA Dermatol. 2019. PMID: 31596431 Free PMC article.
660 results