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Page 1
Germline hypomorphic CARD11 mutations in severe atopic disease.
Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg N, Meffre E, Gelfand EW, Snow AL, Milner JD. Ma CA, et al. Among authors: gelfand ew. Nat Genet. 2017 Aug;49(8):1192-1201. doi: 10.1038/ng.3898. Epub 2017 Jun 19. Nat Genet. 2017. PMID: 28628108 Free PMC article.
Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.
Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, Reynolds PR, Lyons JJ, Nelson CG, Ruffo E, Dorjbal B, Glauzy S, Yamakawa N, Arjunaraja S, Voss K, Stoddard J, Niemela J, Zhang Y, Rosenzweig SD, McElwee JJ, DiMaggio T, Matthews HF, Jones N, Stone KD, Palma A, Oleastro M, Prieto E, Bernasconi AR, Dubra G, Danielian S, Zaiat J, Marti MA, Kim B, Cooper MA, Romberg ND, Meffre E, Gelfand EW, Snow AL, Milner JD. Ma CA, et al. Among authors: gelfand ew. Nat Genet. 2017 Oct 27;49(11):1661. doi: 10.1038/ng1117-1661b. Nat Genet. 2017. PMID: 29074947
Autophagy-associated immune dysregulation and hyperplasia in a patient with compound heterozygous mutations in ATG9A.
Hu G, Hauk PJ, Zhang N, Elsegeiny W, Guardia CM, Kullas A, Crosby K, Deterding RR, Schedel M, Reynolds P, Abbott JK, Knight V, Pittaluga S, Raffeld M, Rosenzweig SD, Bonifacino JS, Uzel G, Williamson PR, Gelfand EW. Hu G, et al. Among authors: gelfand ew. Autophagy. 2023 Feb;19(2):678-691. doi: 10.1080/15548627.2022.2093028. Epub 2022 Jul 15. Autophagy. 2023. PMID: 35838483 Free PMC article.
Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.
Kuehn HS, Boisson B, Cunningham-Rundles C, Reichenbach J, Stray-Pedersen A, Gelfand EW, Maffucci P, Pierce KR, Abbott JK, Voelkerding KV, South ST, Augustine NH, Bush JS, Dolen WK, Wray BB, Itan Y, Cobat A, Sorte HS, Ganesan S, Prader S, Martins TB, Lawrence MG, Orange JS, Calvo KR, Niemela JE, Casanova JL, Fleisher TA, Hill HR, Kumánovics A, Conley ME, Rosenzweig SD. Kuehn HS, et al. Among authors: gelfand ew. N Engl J Med. 2016 Mar 17;374(11):1032-1043. doi: 10.1056/NEJMoa1512234. N Engl J Med. 2016. PMID: 26981933 Free PMC article.
736 results