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194 results

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Page 1
A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
Vocke CD, Fleming LR, Piskorski AM, Amin A, Phornphutkul C, de la Monte S, Vilboux T, Duncan F, Pellegrino J, Braddock B, Middelton LA, Schmidt LS, Merino MJ, Cowen EW, Introne WJ, Linehan WM, Smith ACM. Vocke CD, et al. Among authors: cowen ew. Am J Med Genet A. 2023 Feb;191(2):490-497. doi: 10.1002/ajmg.a.63049. Epub 2022 Dec 13. Am J Med Genet A. 2023. PMID: 36513625 Free PMC article.
PRDM10 RCC: A Birt-Hogg-Dubé-like Syndrome Associated With Lipoma and Highly Penetrant, Aggressive Renal Tumors Morphologically Resembling Type 2 Papillary Renal Cell Carcinoma.
Schmidt LS, Vocke CD, Ricketts CJ, Blake Z, Choo KK, Nielsen D, Gautam R, Crooks DR, Reynolds KL, Krolus JL, Bashyal M, Karim B, Cowen EW, Malayeri AA, Merino MJ, Srinivasan R, Ball MW, Zbar B, Marston Linehan W. Schmidt LS, et al. Among authors: cowen ew. Urology. 2023 Sep;179:58-70. doi: 10.1016/j.urology.2023.04.035. Epub 2023 Jun 16. Urology. 2023. PMID: 37331486 Free PMC article.
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: cowen ew. J Clin Invest. 2023 Oct 2;133(19):e164918. doi: 10.1172/JCI164918. J Clin Invest. 2023. PMID: 37561579 Free PMC article. Clinical Trial.
Early intervention in STAT3 dominant negative disease.
An ZA, Williams KW, Urban A, Ali S, Roy S, Lafeer C, Heimall J, Dimitriades VR, Davis J, Kong HH, Cowen EW, Holland SM, Freeman AF. An ZA, et al. Among authors: cowen ew. J Allergy Clin Immunol Pract. 2023 Dec;11(12):3795-3798.e1. doi: 10.1016/j.jaip.2023.08.044. Epub 2023 Sep 6. J Allergy Clin Immunol Pract. 2023. PMID: 37683824 Free PMC article. No abstract available.
APECED Rash as the First Manifestation of APECED Syndrome.
Ferré EMN, Lee CR, Kong HH, Cowen EW, Lionakis MS. Ferré EMN, et al. Among authors: cowen ew. J Clin Immunol. 2023 Nov;43(8):1774-1777. doi: 10.1007/s10875-023-01578-5. Epub 2023 Sep 4. J Clin Immunol. 2023. PMID: 37665538 No abstract available.
Mpox-A Rapidly Evolving Disease.
Cowen EW, Tkaczyk ER, Norton SA, Leslie KS. Cowen EW, et al. JAMA Dermatol. 2023 Apr 1;159(4):424-431. doi: 10.1001/jamadermatol.2023.0041. JAMA Dermatol. 2023. PMID: 36757705 Free PMC article.
Primary Invasive Cutaneous Fusariosis in Patients with STAT3 Hyper-IgE Syndrome.
Abbara S, Freeman AF, Cohen JF, Leclerc-Mercier S, Sanchez L, Schlatter J, Cisternino S, Parker R, Cowen EW, Rouzaud C, Bougnoux ME, Lanternier F, Lionakis MS, Lortholary O. Abbara S, et al. Among authors: cowen ew. J Clin Immunol. 2023 Apr;43(3):647-652. doi: 10.1007/s10875-022-01404-4. Epub 2022 Dec 12. J Clin Immunol. 2023. PMID: 36504258
194 results