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Page 1
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis.
Ferrada MA, Savic S, Cardona DO, Collins JC, Alessi H, Gutierrez-Rodrigues F, Kumar DBU, Wilson L, Goodspeed W, Topilow JS, Paik JJ, Poulter JA, Kermani TA, Koster MJ, Warrington KJ, Cargo C, Tattersall RS, Duncan CJA, Cantor A, Hoffmann P, Payne EM, Bonnekoh H, Krause K, Cowen EW, Calvo KR, Patel BA, Ombrello AK, Kastner DL, Young NS, Werner A, Grayson PC, Beck DB. Ferrada MA, et al. Among authors: cowen ew. Blood. 2022 Sep 29;140(13):1496-1506. doi: 10.1182/blood.2022016985. Blood. 2022. PMID: 35793467 Free PMC article.
A recurrent rash with fever and arthropathy.
Jacob SE, Cowen EW, Goldbach-Mansky R, Kastner D, Turner ML. Jacob SE, et al. Among authors: cowen ew. J Am Acad Dermatol. 2006 Feb;54(2):318-21. doi: 10.1016/j.jaad.2005.07.007. J Am Acad Dermatol. 2006. PMID: 16443062 No abstract available.
Dyskeratosis congenita: the first NIH clinical research workshop.
Savage SA, Dokal I, Armanios M, Aubert G, Cowen EW, Domingo DL, Giri N, Greene MH, Orchard PJ, Tolar J, Tsilou E, Van Waes C, Wong JM, Young NS, Alter BP. Savage SA, et al. Among authors: cowen ew. Pediatr Blood Cancer. 2009 Sep;53(3):520-3. doi: 10.1002/pbc.22061. Pediatr Blood Cancer. 2009. PMID: 19415736 Free PMC article.
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity.
Spinner MA, Sanchez LA, Hsu AP, Shaw PA, Zerbe CS, Calvo KR, Arthur DC, Gu W, Gould CM, Brewer CC, Cowen EW, Freeman AF, Olivier KN, Uzel G, Zelazny AM, Daub JR, Spalding CD, Claypool RJ, Giri NK, Alter BP, Mace EM, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM. Spinner MA, et al. Among authors: cowen ew. Blood. 2014 Feb 6;123(6):809-21. doi: 10.1182/blood-2013-07-515528. Epub 2013 Nov 13. Blood. 2014. PMID: 24227816 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: cowen ew. 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.
The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort.
Barron KS, Aksentijevich I, Deuitch NT, Stone DL, Hoffmann P, Videgar-Laird R, Soldatos A, Bergerson J, Toro C, Cudrici C, Nehrebecky M, Romeo T, Jones A, Boehm M, Kanakry JA, Dimitrova D, Calvo KR, Alao H, Kapuria D, Ben-Yakov G, Pichard DC, Hathaway L, Brofferio A, McRae E, Moura NS, Schnappauf O, Rosenzweig S, Heller T, Cowen EW, Kastner DL, Ombrello AK. Barron KS, et al. Among authors: cowen ew. Front Immunol. 2022 Jan 10;12:811473. doi: 10.3389/fimmu.2021.811473. eCollection 2021. Front Immunol. 2022. PMID: 35095905 Free PMC article.
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Kozycki CT, et al. Among authors: cowen ew. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22. Ann Rheum Dis. 2022. PMID: 35868845 Free PMC article.
Natural history study of patients with familial platelet disorder with associated myeloid malignancy.
Cunningham L, Merguerian M, Calvo KR, Davis J, Deuitch NT, Dulau-Florea A, Patel N, Yu K, Sacco K, Bhattacharya S, Passi M, Ozkaya N, De Leon S, Chong S, Craft K, Diemer J, Bresciani E, O'Brien K, Andrews EJ, Park N, Hathaway L, Cowen EW, Heller T, Ryan K, Barochia A, Nghiem K, Niemela J, Rosenzweig S, Young DJ, Frischmeyer-Guerrerio PA, Braylan R, Liu PP. Cunningham L, et al. Among authors: cowen ew. Blood. 2023 Dec 21;142(25):2146-2158. doi: 10.1182/blood.2023019746. Blood. 2023. PMID: 37738626 Free PMC article.
Skin Manifestations of VEXAS Syndrome and Associated Genotypes.
Tan IJ, Ferrada MA, Ahmad S, Fike A, Quinn KA, Groarke EM, Beck DB, Allbritton J, Castelo-Soccio L, Young NS, Patel BA, Grayson PC, Cowen EW. Tan IJ, et al. Among authors: cowen ew. JAMA Dermatol. 2024 Aug 1;160(8):822-829. doi: 10.1001/jamadermatol.2024.1657. JAMA Dermatol. 2024. PMID: 38865133
197 results