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5. 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; 23(7):578-583. PubMed ID: 28836875 [TBL] [Abstract][Full Text] [Related]
6. Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. Dugan J; Griffiths E; Snow P; Rosenzweig H; Lee E; Brown B; Carr DW; Rose C; Rosenbaum J; Davey MP J Immunol; 2015 Jan; 194(1):349-57. PubMed ID: 25429073 [TBL] [Abstract][Full Text] [Related]
7. 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 [TBL] [Abstract][Full Text] [Related]
8. Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. Raiji VR; Miller MM; Jung LK J AAPOS; 2011 Apr; 15(2):205-7. PubMed ID: 21596301 [TBL] [Abstract][Full Text] [Related]
9. Blau syndrome with a rare mutation in exon 9 of Velickovic J; Silan F; Bir FD; Silan C; Albuz B; Ozdemir O Autoimmunity; 2019; 52(7-8):256-263. PubMed ID: 31556326 [TBL] [Abstract][Full Text] [Related]
10. Granulomatous skin involvement in a patient with an unusual NOD2 mutation. Kuye IO; Adisa M; Nazarian RM; Arvikar SL; Smith GP Australas J Dermatol; 2017 May; 58(2):142-144. PubMed ID: 26768519 [TBL] [Abstract][Full Text] [Related]
11. Blau syndrome NOD2 mutations result in loss of NOD2 cross-regulatory function. Mao L; Dhar A; Meng G; Fuss I; Montgomery-Recht K; Yang Z; Xu Q; Kitani A; Strober W Front Immunol; 2022; 13():988862. PubMed ID: 36189261 [TBL] [Abstract][Full Text] [Related]
12. 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; 35(3):e180-e183. PubMed ID: 29570830 [TBL] [Abstract][Full Text] [Related]
13. 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; 68(4):1039-44. PubMed ID: 26606664 [TBL] [Abstract][Full Text] [Related]
14. Familial Blau syndrome:First molecularly confirmed report from India. Janarthanan M; Poddar C; Sudharshan S; Seabra L; Crow YJ Indian J Ophthalmol; 2019 Jan; 67(1):165-167. PubMed ID: 30574935 [TBL] [Abstract][Full Text] [Related]
15. Ocular Features in Chinese Patients with Blau Syndrome. Wu S; Zhong L; Sun Z; Zhu T; Song H; Sui R Ocul Immunol Inflamm; 2020; 28(1):79-85. PubMed ID: 30806112 [No Abstract] [Full Text] [Related]
16. Clinical characteristics and treatment of 50 cases of Blau syndrome in Japan confirmed by genetic analysis of the 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; ; Ann Rheum Dis; 2020 Nov; 79(11):1492-1499. PubMed ID: 32647028 [TBL] [Abstract][Full Text] [Related]
17. 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; 21(3):249-251. PubMed ID: 28532706 [TBL] [Abstract][Full Text] [Related]
18. Blau Syndrome: A Systemic Granulomatous Disease of Cutaneous Onset and Phenotypic Complexity. Rose CD Pediatr Dermatol; 2017 Mar; 34(2):216-218. PubMed ID: 27874205 [No Abstract] [Full Text] [Related]
19. Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. Kurokawa T; Kikuchi T; Ohta K; Imai H; Yoshimura N Ophthalmology; 2003 Oct; 110(10):2040-4. PubMed ID: 14522785 [TBL] [Abstract][Full Text] [Related]
20. Blau-Jabs Syndrome in a Tertiary Ophthalmologic Center. Nascimento H; Sousa JM; Fernández DG; Salomão GHA; Sato EH; Muccioli C; Belfort R Ophthalmic Surg Lasers Imaging Retina; 2018 Jan; 49(1):70-75. PubMed ID: 29304271 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]