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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 2
2008 4
2009 3
2010 5
2011 3
2012 2
2013 2
2014 2
2015 6
2016 6
2017 13
2018 10
2019 15
2020 13
2021 25
2022 25
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Search Results

122 results
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Page 1
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. 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.
Prevalence of primary angle-closure disease in retinitis pigmentosa.
Pradhan ZS, Shroff S, Bansod A, Poornachandra B, Shetty A, Devi S, Rao DAS, Puttaiah NK, Rao HL. Pradhan ZS, et al. Among authors: rao das. Indian J Ophthalmol. 2022 Jul;70(7):2449-2451. doi: 10.4103/ijo.IJO_3189_21. Indian J Ophthalmol. 2022. PMID: 35791130 Free PMC article.
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome.
Bainbridge MN, Mazumder A, Ogasawara D, Abou Jamra R, Bernard G, Bertini E, Burglen L, Cope H, Crawford A, Derksen A, Dure L, Gantz E, Koch-Hogrebe M, Hurst ACE, Mahida S, Marshall P, Micalizzi A, Novelli A, Peng H; Rady Children's Institute for Genomic Medicine, Rodriguez D, Robbins SL, Rutledge SL, Scalise R, Schließke S, Shashi V, Srivastava S, Thiffault I, Topol S; Undiagnosed Disease Network, Qebibo L, Wieczorek D, Cravatt B, Haricharan S, Torkamani A, Friedman J. Bainbridge MN, et al. Brain. 2022 Oct 21;145(10):3383-3390. doi: 10.1093/brain/awac223. Brain. 2022. PMID: 35737950 Free PMC article.
TET2-mutant clonal hematopoiesis and risk of gout.
Agrawal M, Niroula A, Cunin P, McConkey M, Shkolnik V, Kim PG, Wong WJ, Weeks LD, Lin AE, Miller PG, Gibson CJ, Sekar A, Schaefer IM, Neuberg D, Stone RM, Bick AG, Uddin MM, Griffin GK, Jaiswal S, Natarajan P, Nigrovic PA, Rao DA, Ebert BL. Agrawal M, et al. Among authors: rao da. Blood. 2022 Sep 8;140(10):1094-1103. doi: 10.1182/blood.2022015384. Blood. 2022. PMID: 35714308 Free PMC article.
Granzyme K+ CD8 T cells form a core population in inflamed human tissue.
Jonsson AH, Zhang F, Dunlap G, Gomez-Rivas E, Watts GFM, Faust HJ, Rupani KV, Mears JR, Meednu N, Wang R, Keras G, Coblyn JS, Massarotti EM, Todd DJ, Anolik JH, McDavid A; Accelerating Medicines Partnership RA/SLE Network, Wei K, Rao DA, Raychaudhuri S, Brenner MB. Jonsson AH, et al. Among authors: rao da. Sci Transl Med. 2022 Jun 15;14(649):eabo0686. doi: 10.1126/scitranslmed.abo0686. Epub 2022 Jun 15. Sci Transl Med. 2022. PMID: 35704599
Longitudinal Immune Cell Profiling in Patients With Early Systemic Lupus Erythematosus.
Sasaki T, Bracero S, Keegan J, Chen L, Cao Y, Stevens E, Qu Y, Wang G, Nguyen J, Sparks JA, Holers VM, Alves SE, Lederer JA, Costenbader KH, Rao DA. Sasaki T, et al. Among authors: rao da. Arthritis Rheumatol. 2022 Nov;74(11):1808-1821. doi: 10.1002/art.42248. Epub 2022 Oct 7. Arthritis Rheumatol. 2022. PMID: 35644031
A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder.
Shankar SP, Grimsrud K, Lanoue L, Egense A, Willis B, Hörberg J, AlAbdi L, Mayer K, Ütkür K, Monaghan KG, Krier J, Stoler J, Alnemer M, Shankar PR, Schaffrath R, Alkuraya FS, Brinkmann U, Eriksson LA, Lloyd K, Rauen KA; Undiagnosed Diseases Network. Shankar SP, et al. Genet Med. 2022 Jul;24(7):1567-1582. doi: 10.1016/j.gim.2022.03.014. Epub 2022 Apr 28. Genet Med. 2022. PMID: 35482014
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder.
Barish S, Senturk M, Schoch K, Minogue AL, Lopergolo D, Fallerini C, Harland J, Seemann JH, Stong N, Kranz PG, Kansagra S, Mikati MA, Jasien J, El-Dairi M, Galluzzi P; Undiagnosed Diseases Network, Ariani F, Renieri A, Mari F, Wangler MF, Arur S, Jiang YH, Yamamoto S, Shashi V, Bellen HJ. Barish S, et al. Hum Mol Genet. 2022 Aug 25;31(17):2934-2950. doi: 10.1093/hmg/ddac085. Hum Mol Genet. 2022. PMID: 35405010
122 results