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Results: 1 to 20 of 90

1.

Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa.

Tadaki H, Saitsu H, Kanegane H, Miyake N, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Nishimura A, Doi H, Tsurusaki Y, Sakai H, Yokota S, Matsumoto N.

Int J Immunogenet. 2011 Aug;38(4):287-93. doi: 10.1111/j.1744-313X.2011.01005.x. Epub 2011 Mar 7.

PMID:
21382177
[PubMed - indexed for MEDLINE]
2.

De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis.

Tadaki H, Saitsu H, Nishimura-Tadaki A, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Miyake N, Doi H, Tsurusaki Y, Sakai H, Yokota S, Matsumoto N.

J Hum Genet. 2011 May;56(5):343-7. doi: 10.1038/jhg.2011.16. Epub 2011 Feb 17.

PMID:
21326309
[PubMed - indexed for MEDLINE]
3.

Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.

Cerutti E, Campagnoli MF, Ferretti M, Garelli E, Crescenzio N, Rosolen A, Chiocchetti A, Lenardo MJ, Ramenghi U, Dianzani U.

BMC Immunol. 2007 Nov 13;8:28.

PMID:
17999750
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Identification of new Fas mutations in a patient with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia.

Aspinall AI, Pinto A, Auer IA, Bridges P, Luider J, Dimnik L, Patel KD, Jorgenson K, Woodman RC.

Blood Cells Mol Dis. 1999 Jun-Aug;25(3-4):227-38.

PMID:
10575548
[PubMed - indexed for MEDLINE]
5.

Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.

Sneller MC, Wang J, Dale JK, Strober W, Middelton LA, Choi Y, Fleisher TA, Lim MS, Jaffe ES, Puck JM, Lenardo MJ, Straus SE.

Blood. 1997 Feb 15;89(4):1341-8.

PMID:
9028957
[PubMed - indexed for MEDLINE]
Free Article
6.

Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms.

Zhang K, Biroschak J, Glass DN, Thompson SD, Finkel T, Passo MH, Binstadt BA, Filipovich A, Grom AA.

Arthritis Rheum. 2008 Sep;58(9):2892-6. doi: 10.1002/art.23734.

PMID:
18759271
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.

Zhu S, Hsu AP, Vacek MM, Zheng L, Schäffer AA, Dale JK, Davis J, Fischer RE, Straus SE, Boruchov D, Saulsbury FT, Lenardo MJ, Puck JM.

Hum Genet. 2006 Apr;119(3):284-94. Epub 2006 Jan 31.

PMID:
16446975
[PubMed - indexed for MEDLINE]
8.

Association of SLC11A1 (NRAMP1) with persistent oligoarticular and polyarticular rheumatoid factor-negative juvenile idiopathic arthritis in Finnish patients: haplotype analysis in Finnish families.

Runstadler JA, Säilä H, Savolainen A, Leirisalo-Repo M, Aho K, Tuomilehto-Wolf E, Tuomilehto J, Seldin MF.

Arthritis Rheum. 2005 Jan;52(1):247-56.

PMID:
15641099
[PubMed - indexed for MEDLINE]
Free Article
9.

The -174G allele of the interleukin-6 gene confers susceptibility to systemic arthritis in children: a multicenter study using simplex and multiplex juvenile idiopathic arthritis families.

Ogilvie EM, Fife MS, Thompson SD, Twine N, Tsoras M, Moroldo M, Fisher SA, Lewis CM, Prieur AM, Glass DN, Woo P.

Arthritis Rheum. 2003 Nov;48(11):3202-6.

PMID:
14613283
[PubMed - indexed for MEDLINE]
Free Article
10.

Tumor necrosis factor receptor-associated periodic syndrome mimicking systemic juvenile idiopathic arthritis.

Manki A, Nishikomori R, Nakata-Hizume M, Kunitomi T, Takei S, Urakami T, Morishima T.

Allergol Int. 2006 Sep;55(3):337-41.

PMID:
17075277
[PubMed - indexed for MEDLINE]
Free Article
11.

Characteristic T helper 2 T cell cytokine abnormalities in autoimmune lymphoproliferative syndrome, a syndrome marked by defective apoptosis and humoral autoimmunity.

Fuss IJ, Strober W, Dale JK, Fritz S, Pearlstein GR, Puck JM, Lenardo MJ, Straus SE.

J Immunol. 1997 Feb 15;158(4):1912-8.

PMID:
9029133
[PubMed - indexed for MEDLINE]
12.

CD4+CD25bright regulatory T cells actively regulate inflammation in the joints of patients with the remitting form of juvenile idiopathic arthritis.

de Kleer IM, Wedderburn LR, Taams LS, Patel A, Varsani H, Klein M, de Jager W, Pugayung G, Giannoni F, Rijkers G, Albani S, Kuis W, Prakken B.

J Immunol. 2004 May 15;172(10):6435-43.

PMID:
15128835
[PubMed - indexed for MEDLINE]
Free Article
13.

The association with the -159C/T polymorphism in the promoter region of the CD14 gene and juvenile idiopathic arthritis in a Chinese Han population.

Zeng HS, Chen XY, Luo XP.

J Rheumatol. 2009 Sep;36(9):2025-8. doi: 10.3899/jrheum.081093. Epub 2009 Jul 15.

PMID:
19605672
[PubMed - indexed for MEDLINE]
14.

Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene.

Hinks A, Barton A, John S, Bruce I, Hawkins C, Griffiths CE, Donn R, Thomson W, Silman A, Worthington J.

Arthritis Rheum. 2005 Jun;52(6):1694-9.

PMID:
15934099
[PubMed - indexed for MEDLINE]
Free Article
15.

Autoimmune lymphoproliferative syndrome, a disorder of apoptosis.

Jackson CE, Puck JM.

Curr Opin Pediatr. 1999 Dec;11(6):521-7. Review.

PMID:
10590910
[PubMed - indexed for MEDLINE]
16.

Lack of association between juvenile idiopathic arthritis and fas gene polymorphism.

Donn R, Zeggini E, Shelley E, Ollier W, Thomson W; British Paediatric Rheumatology Study Group.

J Rheumatol. 2002 Jan;29(1):166-8.

PMID:
11824955
[PubMed - indexed for MEDLINE]
17.

Inactivating mutations of CASP10 gene in non-Hodgkin lymphomas.

Shin MS, Kim HS, Kang CS, Park WS, Kim SY, Lee SN, Lee JH, Park JY, Jang JJ, Kim CW, Kim SH, Lee JY, Yoo NJ, Lee SH.

Blood. 2002 Jun 1;99(11):4094-9.

PMID:
12010812
[PubMed - indexed for MEDLINE]
Free Article
18.

Autoimmune lymphoproliferative syndrome: report of two cases and review of the literature.

Oren H, Ozkal S, Gülen H, Duman M, Uçar C, Atabay B, Yilmaz S, Kargi A, Irken G.

Ann Hematol. 2002 Nov;81(11):651-3. Epub 2002 Oct 23. Review.

PMID:
12454704
[PubMed - indexed for MEDLINE]
19.

Association of the HLA-G 14-bp insertion/deletion polymorphism with juvenile idiopathic arthritis and rheumatoid arthritis.

Veit TD, Vianna P, Scheibel I, Brenol CV, Brenol JC, Xavier RM, Delgado-Cañedo A, Gutierrez JE, Brandalize AP, Schuler-Faccini L, Chies JA.

Tissue Antigens. 2008 May;71(5):440-6. doi: 10.1111/j.1399-0039.2008.01019.x. Epub 2008 Mar 10. Erratum in: Tissue Antigens. 2008 Aug;72(2):185. Brenol, Claiton [corrected to Brenol, Claiton Viegas].

PMID:
18331529
[PubMed - indexed for MEDLINE]
20.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

Dan Med Bull. 2009 Aug;56(3):105-52.

PMID:
19728970
[PubMed - indexed for MEDLINE]

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