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Page 1
Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis.
Bochner R, Samuelov L, Sarig O, Li Q, Adase CA, Isakov O, Malchin N, Vodo D, Shayevitch R, Peled A, Yu BD, Fainberg G, Warshauer E, Adir N, Erez N, Gat A, Gottlieb Y, Rogers T, Pavlovsky M, Goldberg I, Shomron N, Sandilands A, Campbell LE, MacCallum S, McLean WHI, Ast G, Gallo RL, Uitto J, Sprecher E. Bochner R, et al. Among authors: adir n. J Invest Dermatol. 2017 Feb;137(2):385-393. doi: 10.1016/j.jid.2016.07.043. Epub 2016 Oct 18. J Invest Dermatol. 2017. PMID: 27769845 Free article.
Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.
Chefetz I, Ben Amitai D, Browning S, Skorecki K, Adir N, Thomas MG, Kogleck L, Topaz O, Indelman M, Uitto J, Richard G, Bradman N, Sprecher E. Chefetz I, et al. Among authors: adir n. J Invest Dermatol. 2008 Jun;128(6):1423-9. doi: 10.1038/sj.jid.5701203. Epub 2007 Dec 20. J Invest Dermatol. 2008. PMID: 18094730 Free PMC article.
Cole Disease Results from Mutations in ENPP1.
Eytan O, Morice-Picard F, Sarig O, Ezzedine K, Isakov O, Li Q, Ishida-Yamamoto A, Shomron N, Goldsmith T, Fuchs-Telem D, Adir N, Uitto J, Orlow SJ, Taieb A, Sprecher E. Eytan O, et al. Among authors: adir n. Am J Hum Genet. 2013 Oct 3;93(4):752-7. doi: 10.1016/j.ajhg.2013.08.007. Epub 2013 Sep 26. Am J Hum Genet. 2013. PMID: 24075184 Free PMC article.
Olmsted syndrome caused by a homozygous recessive mutation in TRPV3.
Eytan O, Fuchs-Telem D, Mevorach B, Indelman M, Bergman R, Sarig O, Goldberg I, Adir N, Sprecher E. Eytan O, et al. Among authors: adir n. J Invest Dermatol. 2014 Jun;134(6):1752-1754. doi: 10.1038/jid.2014.37. Epub 2014 Jan 24. J Invest Dermatol. 2014. PMID: 24463422 Free article. No abstract available.
Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
Peled A, Sarig O, Samuelov L, Bertolini M, Ziv L, Weissglas-Volkov D, Eskin-Schwartz M, Adase CA, Malchin N, Bochner R, Fainberg G, Goldberg I, Sugawara K, Baniel A, Tsuruta D, Luxenburg C, Adir N, Duverger O, Morasso M, Shalev S, Gallo RL, Shomron N, Paus R, Sprecher E. Peled A, et al. Among authors: adir n. PLoS Genet. 2016 Oct 13;12(10):e1006369. doi: 10.1371/journal.pgen.1006369. eCollection 2016 Oct. PLoS Genet. 2016. PMID: 27736875 Free PMC article.
Striate palmoplantar keratoderma resulting from a missense mutation in DSG1.
Vodo D, O'Toole EA, Malchin N, Lahav A, Adir N, Sarig O, Green KJ, Smith FJD, Sprecher E. Vodo D, et al. Among authors: adir n. Br J Dermatol. 2018 Sep;179(3):755-757. doi: 10.1111/bjd.16320. Epub 2018 May 5. Br J Dermatol. 2018. PMID: 29315490 Free PMC article. No abstract available.
Variant PADI3 in Central Centrifugal Cicatricial Alopecia.
Malki L, Sarig O, Romano MT, Méchin MC, Peled A, Pavlovsky M, Warshauer E, Samuelov L, Uwakwe L, Briskin V, Mohamad J, Gat A, Isakov O, Rabinowitz T, Shomron N, Adir N, Simon M, McMichael A, Dlova NC, Betz RC, Sprecher E. Malki L, et al. Among authors: adir n. N Engl J Med. 2019 Feb 28;380(9):833-841. doi: 10.1056/NEJMoa1816614. Epub 2019 Feb 13. N Engl J Med. 2019. PMID: 30763140
Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B.
Mohamad J, Samuelov L, Malki L, Peled A, Pavlovsky M, Malovitski K, Taiber S, Adir N, Rabinowitz T, Shomron N, Milner JD, Lestringant G, Sarig O, Sprecher E. Mohamad J, et al. Among authors: adir n. Clin Exp Dermatol. 2021 Jan;46(1):103-108. doi: 10.1111/ced.14384. Epub 2020 Sep 12. Clin Exp Dermatol. 2021. PMID: 32683719
112 results