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Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.
Burns SO, Plagnol V, Gutierrez BM, Al Zahrani D, Curtis J, Gaspar M, Hassan A, Jones AM, Malone M, Rampling D, McLatchie A, Doffinger R, Gilmour KC, Henriquez F, Thrasher AJ, Gaspar HB, Nejentsev S. Burns SO, et al. Among authors: rampling d. J Allergy Clin Immunol. 2014 Jul;134(1):215-8. doi: 10.1016/j.jaci.2013.12.1093. Epub 2014 Mar 27. J Allergy Clin Immunol. 2014. PMID: 24679846 Free PMC article. No abstract available.
Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up.
Kammermeier J, Lucchini G, Pai SY, Worth A, Rampling D, Amrolia P, Silva J, Chiesa R, Rao K, Noble-Jamieson G, Gasparetto M, Ellershaw D, Uhlig H, Sebire N, Elawad M, Notarangelo L, Shah N, Veys P. Kammermeier J, et al. Among authors: rampling d. Blood. 2016 Sep 1;128(9):1306-8. doi: 10.1182/blood-2016-01-696385. Epub 2016 Jul 14. Blood. 2016. PMID: 27418642 Free article. No abstract available.
Generation and Clinical Application of Gene-Modified Autologous Epidermal Sheets in Netherton Syndrome: Lessons Learned from a Phase 1 Trial.
Di WL, Lwin SM, Petrova A, Bernadis C, Syed F, Farzaneh F, Moulding D, Martinez AE, Sebire NJ, Rampling D, Virasami A, Zamiri M, Wang W, Hara H, Kadiyirire T, Abdul-Wahab A, Martinez-Queipo M, Harper JI, McGrath JA, Thrasher AJ, Mellerio JE, Qasim W. Di WL, et al. Among authors: rampling d. Hum Gene Ther. 2019 Sep;30(9):1067-1078. doi: 10.1089/hum.2019.049. Epub 2019 Aug 5. Hum Gene Ther. 2019. PMID: 31288584 Clinical Trial.
Targetable NOTCH1 rearrangements in reninoma.
Treger TD, Lawrence JEG, Anderson ND, Coorens THH, Letunovska A, Abby E, Lee-Six H, Oliver TRW, Al-Saadi R, Tullus K, Morcrette G, Hutchinson JC, Rampling D, Sebire N, Pritchard-Jones K, Young MD, Mitchell TJ, Jones PH, Tran M, Behjati S, Chowdhury T. Treger TD, et al. Among authors: rampling d. Nat Commun. 2023 Sep 25;14(1):5826. doi: 10.1038/s41467-023-41118-8. Nat Commun. 2023. PMID: 37749094 Free PMC article.
47 results