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Items: 1 to 20 of 96

1.

Novel presentation of Omenn syndrome in association with aniridia.

Sheehan WJ, Delmonte OM, Miller DT, Roberts AE, Bonilla FA, Morra M, Giliani S, Pai SY, Notarangelo LD, Oettgen HC.

J Allergy Clin Immunol. 2009 Apr;123(4):966-9. doi: 10.1016/j.jaci.2008.12.007. No abstract available.

2.

Omenn syndrome with mutation in RAG1 gene.

Jaouad IC, Ouldim K, Ali Ou Alla S, Kriouile Y, Villa A, Sefiani A.

Indian J Pediatr. 2008 Sep;75(9):944-6. doi: 10.1007/s12098-008-0197-0. Epub 2008 Nov 15.

PMID:
19011808
3.

[Clinical phenotype and gene diagnostic analysis of Omenn syndrome].

Wang YQ, Cui YX, Feng J.

Zhonghua Er Ke Za Zhi. 2013 Jan;51(1):64-8. Chinese.

PMID:
23527934
4.

Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.

Kato M, Kimura H, Seki M, Shimada A, Hayashi Y, Morio T, Kumaki S, Ishida Y, Kamachi Y, Yachie A.

Allergol Int. 2006 Jun;55(2):115-9. Review.

5.

Omenn syndrome due to mutation of the RAG2 gene.

Ktiouet S, Bertrand Y, Rival-Tringali AL, Kanitakis J, Malcus C, Poitevin F, Picard C, Claudy A, Faure M.

J Eur Acad Dermatol Venereol. 2009 Dec;23(12):1449-51. doi: 10.1111/j.1468-3083.2009.03232.x. Epub 2009 Mar 12. No abstract available.

PMID:
19470080
6.

Analysis of mutations and recombination activity in RAG-deficient patients.

Asai E, Wada T, Sakakibara Y, Toga A, Toma T, Shimizu T, Nampoothiri S, Imai K, Nonoyama S, Morio T, Muramatsu H, Kamachi Y, Ohara O, Yachie A.

Clin Immunol. 2011 Feb;138(2):172-7. doi: 10.1016/j.clim.2010.11.005. Epub 2010 Dec 4.

PMID:
21131235
7.

Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.

Dalal I, Tasher D, Somech R, Etzioni A, Garti BZ, Lev D, Cohen S, Somekh E, Leshinsky-Silver E.

Clin Immunol. 2011 Sep;140(3):284-90. doi: 10.1016/j.clim.2011.04.011. Epub 2011 May 7.

PMID:
21624848
8.

Mutations in Recombination Activating Gene 1 and 2 in patients with severe combined immunodeficiency disorders in Egypt.

Meshaal S, El Hawary R, Elsharkawy M, Mousa RK, Farid RJ, Abd Elaziz D, Alkady R, Galal N, Massaad MJ, Boutros J, Elmarsafy A.

Clin Immunol. 2015 Jun;158(2):167-73. doi: 10.1016/j.clim.2015.04.003. Epub 2015 Apr 11.

PMID:
25869295
9.

[Hypomorphic RAG1 mutations and CMV infection: a new phenotype of severe combined immunodeficiency].

Le Deist F, de Villartay JP, Lim A, Déchanet J, Fischer A.

Med Sci (Paris). 2006 Mar;22(3):239-40. French. No abstract available.

10.

Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.

Wada T, Takei K, Kudo M, Shimura S, Kasahara Y, Koizumi S, Kawa-Ha K, Ishida Y, Imashuku S, Seki H, Yachie A.

Clin Exp Immunol. 2000 Jan;119(1):148-55.

11.

Prenatal diagnosis of RAG-deficient Omenn syndrome.

Villa A, Bozzi F, Sobacchi C, Strina D, Fasth A, Pasic S, Notarangelo LD, Vezzoni P.

Prenat Diagn. 2000 Jan;20(1):56-9.

PMID:
10701853
12.

[Analysis of genetic mutations and pathogenesis for two children with Omenn syndrome].

Xu Y, Chen Y, Chen H, Zeng H.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Feb;33(1):38-43. doi: 10.3760/cma.j.issn.1003-9406.2016.01.010. Chinese.

PMID:
26829731
13.

Omenn syndrome due to ARTEMIS mutations.

Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR, Schwarz K, Pannicke U.

Blood. 2005 Jun 1;105(11):4179-86. Epub 2005 Feb 24.

14.

Partial V(D)J recombination activity leads to Omenn syndrome.

Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E.

Cell. 1998 May 29;93(5):885-96.

15.

IL7R and RAG1/2 genes mutations/polymorphisms in patients with SCID.

Safaei S, Pourpak Z, Moin M, Houshmand M.

Iran J Allergy Asthma Immunol. 2011 Jun;10(2):129-32. doi: 010.02/ijaai.129132.

16.

A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.

Chou J, Hanna-Wakim R, Tirosh I, Kane J, Fraulino D, Lee YN, Ghanem S, Mahfouz I, Mégarbané A, Lefranc G, Inati A, Dbaibo G, Giliani S, Notarangelo LD, Geha RS, Massaad MJ.

J Allergy Clin Immunol. 2012 Dec;130(6):1414-6. doi: 10.1016/j.jaci.2012.06.012. Epub 2012 Jul 25. No abstract available.

17.

Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection.

Dalal I, Tabori U, Bielorai B, Golan H, Rosenthal E, Amariglio N, Rechavi G, Toren A.

Clin Immunol. 2005 Apr;115(1):70-3.

PMID:
15870023
18.

Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.

Zhang ZY, Zhao XD, Jiang LP, Liu EM, Cui YX, Wang M, Wei H, Yu J, An YF, Yang XQ.

Pediatr Allergy Immunol. 2011 Aug;22(5):482-7. doi: 10.1111/j.1399-3038.2010.01126.x. Epub 2011 Mar 29.

PMID:
21771083
19.

Omenn's syndrome occurring in patients without mutations in recombination activating genes.

Gennery AR, Hodges E, Williams AP, Harris S, Villa A, Angus B, Cant AJ, Smith JL.

Clin Immunol. 2005 Sep;116(3):246-56.

PMID:
15964782
20.

Omenn syndrome: a disorder of Rag1 and Rag2 genes.

Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo LD.

J Clin Immunol. 1999 Mar;19(2):87-97. Review.

PMID:
10226883
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