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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2007 | 1 |
2008 | 1 |
2011 | 1 |
2014 | 1 |
2017 | 2 |
2024 | 0 |
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Page 1
Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients.
Blood. 2008 Feb 15;111(4):2132-41. doi: 10.1182/blood-2007-06-094201. Epub 2007 Dec 6.
Blood. 2008.
PMID: 18063752
Free article.
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.
Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Aróstegui JI, Yagüe J, Merino R, Ibañez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T.
Tanaka N, et al.
Arthritis Rheum. 2011 Nov;63(11):3625-32. doi: 10.1002/art.30512.
Arthritis Rheum. 2011.
PMID: 21702021
Free PMC article.
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Neonatal treatment of CINCA syndrome.
Paccaud Y, Berthet G, Von Scheven-Gête A, Vaudaux B, Mivelaz Y, Hofer M, Roth-Kleiner M.
Paccaud Y, et al.
Pediatr Rheumatol Online J. 2014 Dec 15;12:52. doi: 10.1186/1546-0096-12-52. eCollection 2014.
Pediatr Rheumatol Online J. 2014.
PMID: 25584041
Free PMC article.
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Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience.
Rowczenio DM, Gomes SM, Aróstegui JI, Mensa-Vilaro A, Omoyinmi E, Trojer H, Baginska A, Baroja-Mazo A, Pelegrin P, Savic S, Lane T, Williams R, Brogan P, Lachmann HJ, Hawkins PN.
Rowczenio DM, et al.
Front Immunol. 2017 Oct 31;8:1410. doi: 10.3389/fimmu.2017.01410. eCollection 2017.
Front Immunol. 2017.
PMID: 29163488
Free PMC article.
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Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group; Topper S.
Nykamp K, et al.
Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11.
Genet Med. 2017.
PMID: 28492532
Free PMC article.
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