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310 results

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Page 1
Chromoanasynthesis as a cause of Jacobsen syndrome.
Anzick S, Thurm A, Burkett S, Velez D, Cho E, Chlebowski C, Virtaneva K, Bruno D, Martin CB, Lang DM, Brooks B, Martens C, McDermott DH, Murphy PM. Anzick S, et al. Among authors: velez d. Am J Med Genet A. 2020 Nov;182(11):2533-2539. doi: 10.1002/ajmg.a.61824. Epub 2020 Aug 25. Am J Med Genet A. 2020. PMID: 32841469 Free PMC article.
A phase 1 clinical trial of long-term, low-dose treatment of WHIM syndrome with the CXCR4 antagonist plerixafor.
McDermott DH, Liu Q, Velez D, Lopez L, Anaya-O'Brien S, Ulrick J, Kwatemaa N, Starling J, Fleisher TA, Priel DA, Merideth MA, Giuntoli RL, Evbuomwan MO, Littel P, Marquesen MM, Hilligoss D, DeCastro R, Grimes GJ, Hwang ST, Pittaluga S, Calvo KR, Stratton P, Cowen EW, Kuhns DB, Malech HL, Murphy PM. McDermott DH, et al. Among authors: velez d. Blood. 2014 Apr 10;123(15):2308-16. doi: 10.1182/blood-2013-09-527226. Epub 2014 Feb 12. Blood. 2014. PMID: 24523241 Free PMC article. Clinical Trial.
Chromothriptic cure of WHIM syndrome.
McDermott DH, Gao JL, Liu Q, Siwicki M, Martens C, Jacobs P, Velez D, Yim E, Bryke CR, Hsu N, Dai Z, Marquesen MM, Stregevsky E, Kwatemaa N, Theobald N, Long Priel DA, Pittaluga S, Raffeld MA, Calvo KR, Maric I, Desmond R, Holmes KL, Kuhns DB, Balabanian K, Bachelerie F, Porcella SF, Malech HL, Murphy PM. McDermott DH, et al. Among authors: velez d. Cell. 2015 Feb 12;160(4):686-699. doi: 10.1016/j.cell.2015.01.014. Epub 2015 Feb 5. Cell. 2015. PMID: 25662009 Free PMC article.
Metagenomic Discovery of 83 New Human Papillomavirus Types in Patients with Immunodeficiency.
Pastrana DV, Peretti A, Welch NL, Borgogna C, Olivero C, Badolato R, Notarangelo LD, Gariglio M, FitzGerald PC, McIntosh CE, Reeves J, Starrett GJ, Bliskovsky V, Velez D, Brownell I, Yarchoan R, Wyvill KM, Uldrick TS, Maldarelli F, Lisco A, Sereti I, Gonzalez CM, Androphy EJ, McBride AA, Van Doorslaer K, Garcia F, Dvoretzky I, Liu JS, Han J, Murphy PM, McDermott DH, Buck CB. Pastrana DV, et al. Among authors: velez d. mSphere. 2018 Dec 12;3(6):e00645-18. doi: 10.1128/mSphereDirect.00645-18. mSphere. 2018. PMID: 30541782 Free PMC article.
Plerixafor for the Treatment of WHIM Syndrome.
McDermott DH, Pastrana DV, Calvo KR, Pittaluga S, Velez D, Cho E, Liu Q, Trout HH 3rd, Neves JF, Gardner PJ, Bianchi DA, Blair EA, Landon EM, Silva SL, Buck CB, Murphy PM. McDermott DH, et al. Among authors: velez d. N Engl J Med. 2019 Jan 10;380(2):163-170. doi: 10.1056/NEJMoa1808575. N Engl J Med. 2019. PMID: 30625055 Free PMC article.
SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.
Delmonte OM, Bergerson JRE, Kawai T, Kuehn HS, McDermott DH, Cortese I, Zimmermann MT, Dobbs AK, Bosticardo M, Fink D, Majumdar S, Palterer B, Pala F, Dsouza NR, Pouzolles M, Taylor N, Calvo KR, Daley SR, Velez D, Agharahimi A, Myint-Hpu K, Dropulic LK, Lyons JJ, Holland SM, Freeman AF, Ghosh R, Similuk MB, Niemela JE, Stoddard J, Kuhns DB, Urrutia R, Rosenzweig SD, Walkiewicz MA, Murphy PM, Notarangelo LD. Delmonte OM, et al. Among authors: velez d. Blood. 2021 Sep 23;138(12):1019-1033. doi: 10.1182/blood.2020008629. Blood. 2021. PMID: 33876203 Free PMC article. Clinical Trial.
A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome.
McDermott DH, Velez D, Cho E, Cowen EW, DiGiovanna JJ, Pastrana DV, Buck CB, Calvo KR, Gardner PJ, Rosenzweig SD, Stratton P, Merideth MA, Kim HJ, Brewer C, Katz JD, Kuhns DB, Malech HL, Follmann D, Fay MP, Murphy PM. McDermott DH, et al. Among authors: velez d. J Clin Invest. 2023 Oct 2;133(19):e164918. doi: 10.1172/JCI164918. J Clin Invest. 2023. PMID: 37561579 Free PMC article. Clinical Trial.
Periodontal disease in patients with WHIM syndrome.
Brenchley L, McDermott DH, Gardner PJ, Silva LM, Gao JL, Cho E, Velez D, Moutsopoulos NM, Murphy PM, Fraser D. Brenchley L, et al. Among authors: velez d. J Clin Periodontol. 2024 Apr;51(4):464-473. doi: 10.1111/jcpe.13940. Epub 2024 Jan 7. J Clin Periodontol. 2024. PMID: 38185798
310 results