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Journal Abstract Search

197 related items for PubMed ID: 27625029

  • 1. A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome.
    Jain L, Gupta N, Reddy MM, Mittal R, Barik MR, Panigrahi B, Monie T, Basu S.
    Ocul Immunol Inflamm; 2018; 26(2):292-294. PubMed ID: 27625029
    [Abstract] [Full Text] [Related]

  • 2. A novel mutation in early-onset sarcoidosis/Blau syndrome: an association with Propionibacterium acnes.
    Okazaki F, Wakiguchi H, Korenaga Y, Nakamura T, Yasudo H, Uchi S, Yanai R, Asano N, Hoshii Y, Tanabe T, Izawa K, Honda Y, Nishikomori R, Uchida K, Eishi Y, Ohga S, Hasegawa S.
    Pediatr Rheumatol Online J; 2021 Feb 18; 19(1):18. PubMed ID: 33602264
    [Abstract] [Full Text] [Related]

  • 3. Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome.
    Ahmad M, Hermanson ME, Enzenauer R, Palestine A, Lin C, Meeks N, McCourt E.
    J AAPOS; 2017 Jun 18; 21(3):249-251. PubMed ID: 28532706
    [Abstract] [Full Text] [Related]

  • 4. Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome).
    Carreño E, Guly CM, Chilov M, Hinchcliffe A, Arostegui JI, Lee RW, Dick AD, Ramanan AV.
    Acta Ophthalmol; 2015 May 18; 93(3):253-7. PubMed ID: 25209167
    [Abstract] [Full Text] [Related]

  • 5. A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis.
    Ebrahimiadib N, Samra KA, Domina AM, Stiles ER, Ewer R, Bocian CP, Foster CS.
    Ocul Immunol Inflamm; 2018 May 18; 26(1):57-64. PubMed ID: 27419275
    [Abstract] [Full Text] [Related]

  • 6. Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene with good response to infliximab.
    Toral-López J, González-Huerta LM, Martín-Del Campo M, Messina-Baas O, Cuevas-Covarrubias SA.
    Pediatr Dermatol; 2018 May 18; 35(3):e180-e183. PubMed ID: 29570830
    [Abstract] [Full Text] [Related]

  • 7. Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the NOD2 mutation.
    Matsuda T, Kambe N, Ueki Y, Kanazawa N, Izawa K, Honda Y, Kawakami A, Takei S, Tonomura K, Inoue M, Kobayashi H, Okafuji I, Sakurai Y, Kato N, Maruyama Y, Inoue Y, Otsubo Y, Makino T, Okada S, Kobayashi I, Yashiro M, Ito S, Fujii H, Kondo Y, Okamoto N, Ito S, Iwata N, Kaneko U, Doi M, Hosokawa J, Ohara O, Saito MK, Nishikomori R, PIDJ members in the JSIAD, PIDJ (Primary Immunodeficiency and Autoinflammatory Diseases Database Project) members in the JSIAD (Japanese Society for Immunodeficiency and Autoinflammatory Diseases).
    Ann Rheum Dis; 2020 Nov 18; 79(11):1492-1499. PubMed ID: 32647028
    [Abstract] [Full Text] [Related]

  • 8. A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome.
    Rodrigues FG, Petrushkin H, Webster AR, Bickerstaff M, Moraitis E, Rowczenio D, Aróstegui JI, Westcott M.
    Ophthalmic Genet; 2021 Dec 18; 42(6):753-764. PubMed ID: 34251956
    [Abstract] [Full Text] [Related]

  • 9. Case Report: Methotrexate and hydroxychloroquine in combination for the treatment of NOD2-mutation-associated Blau syndrome.
    Jensen ME, Harrell K, McBride JD.
    Front Immunol; 2023 Dec 18; 14():1279329. PubMed ID: 37868966
    [Abstract] [Full Text] [Related]

  • 10. Blau syndrome with a rare mutation in exon 9 of NOD2 gene.
    Velickovic J, Silan F, Bir FD, Silan C, Albuz B, Ozdemir O.
    Autoimmunity; 2019 Dec 18; 52(7-8):256-263. PubMed ID: 31556326
    [Abstract] [Full Text] [Related]

  • 11. Blau Syndrome: NOD2-related systemic autoinflammatory granulomatosis.
    Takada S, Saito MK, Kambe N.
    G Ital Dermatol Venereol; 2020 Oct 18; 155(5):537-541. PubMed ID: 32618442
    [Abstract] [Full Text] [Related]

  • 12. Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene.
    Raiji VR, Miller MM, Jung LK.
    J AAPOS; 2011 Apr 18; 15(2):205-7. PubMed ID: 21596301
    [Abstract] [Full Text] [Related]

  • 13. Blau syndrome with NOD2 mutation in a 54-year-old man: A case report.
    Wang Z, Yang M, Zhang Q, Zhang S, Sui H, Liu J, Yang Q.
    Int J Rheum Dis; 2023 Oct 18; 26(10):2080-2084. PubMed ID: 37246600
    [Abstract] [Full Text] [Related]

  • 14. Blau Syndrome: Report of a Rare Entity with Congenital Ostium Secundum Atrial Septal Defect in a 7-year-old Chinese Girl.
    Yang XH, Lin L, Sun JF, Jiang YQ.
    Acta Derm Venereol; 2019 Sep 01; 99(10):923-924. PubMed ID: 31120540
    [No Abstract] [Full Text] [Related]

  • 15. Exacerbation of symptoms in Blau syndrome/early-onset sarcoidosis following delivery.
    Mizawa M, Makino T, Nakamura T, Yamaguchi S, Taki H, Shimizu T.
    Eur J Dermatol; 2015 Sep 01; 25(6):620-2. PubMed ID: 26712281
    [No Abstract] [Full Text] [Related]

  • 16. A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?
    Inoue Y, Kawaguchi Y, Shimojo N, Yamaguchi K, Morita Y, Nakano T, Arima T, Tomiita M, Kohno Y.
    Mod Rheumatol; 2013 Jul 01; 23(4):837-9. PubMed ID: 22821420
    [Abstract] [Full Text] [Related]

  • 17. Blau syndrome with pulmonary nodule in a child.
    Su J, Liu D.
    Australas J Dermatol; 2021 May 01; 62(2):217-220. PubMed ID: 33742458
    [Abstract] [Full Text] [Related]

  • 18. A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function.
    Ong LT, Nachbur U, Rowczenio D, Ziegler JB, Fischer E, Lin MW.
    Innate Immun; 2017 Oct 01; 23(7):578-583. PubMed ID: 28836875
    [Abstract] [Full Text] [Related]

  • 19. Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.
    Mensa-Vilaro A, Cham WT, Tang SP, Lim SC, González-Roca E, Ruiz-Ortiz E, Ariffin R, Yagüe J, Aróstegui JI.
    Arthritis Rheumatol; 2016 Apr 01; 68(4):1039-44. PubMed ID: 26606664
    [Abstract] [Full Text] [Related]

  • 20. Familial Blau syndrome:First molecularly confirmed report from India.
    Janarthanan M, Poddar C, Sudharshan S, Seabra L, Crow YJ.
    Indian J Ophthalmol; 2019 Jan 01; 67(1):165-167. PubMed ID: 30574935
    [Abstract] [Full Text] [Related]

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