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Items: 1 to 20 of 210

1.

Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children.

Lee PP, Chan KW, Chen TX, Jiang LP, Wang XC, Zeng HS, Chen XY, Liew WK, Chen J, Chu KM, Chan LL, Shek L, Lee AC, Yu HH, Li Q, Xu CG, Sultan-Ugdoracion G, Latiff ZA, Latiff AH, Jirapongsananuruk O, Ho MH, Lee TL, Yang XQ, Lau YL.

J Clin Immunol. 2011 Apr;31(2):281-96. doi: 10.1007/s10875-010-9489-z.

PMID:
21184155
2.

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.

3.

Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review.

Kalman L, Lindegren ML, Kobrynski L, Vogt R, Hannon H, Howard JT, Buckley R.

Genet Med. 2004 Jan-Feb;6(1):16-26. Review.

PMID:
14726805
4.

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.

PMID:
21771083
5.

Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011).

Yao CM, Han XH, Zhang YD, Zhang H, Jin YY, Cao RM, Wang X, Liu QH, Zhao W, Chen TX.

J Clin Immunol. 2013 Apr;33(3):526-39. doi: 10.1007/s10875-012-9854-1.

PMID:
23250629
6.

Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome.

Tabori U, Mark Z, Amariglio N, Etzioni A, Golan H, Biloray B, Toren A, Rechavi G, Dalal I.

Clin Genet. 2004 Apr;65(4):322-6.

PMID:
15025726
7.

Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.

Puel A, Ziegler SF, Buckley RH, Leonard WJ.

Nat Genet. 1998 Dec;20(4):394-7.

PMID:
9843216
8.

Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID.

Karaca NE, Aksu G, Genel F, Gulez N, Can S, Aydinok Y, Aksoylar S, Karaca E, Altuglu I, Kutukculer N.

Clin Exp Med. 2009 Dec;9(4):339-42. doi: 10.1007/s10238-009-0053-1.

PMID:
19458910
9.

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.

PMID:
21624848
10.

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.

PMID:
19011808
11.

Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.

Alsmadi O, Al-Ghonaium A, Al-Muhsen S, Arnaout R, Al-Dhekri H, Al-Saud B, Al-Kayal F, Al-Saud H, Al-Mousa H.

BMC Med Genet. 2009 Nov 13;10:116. doi: 10.1186/1471-2350-10-116.

12.

Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience.

Pasic S, Vujic D, Veljković D, Slavkovic B, Mostarica-Stojkovic M, Minic P, Minic A, Ristic G, Giliani S, Villa A, Sobacchi C, Lilić D, Abinun M.

J Clin Immunol. 2014 Apr;34(3):304-8. doi: 10.1007/s10875-014-9991-9.

PMID:
24481607
13.

Severe combined immunodeficiency in Greek children over a 20-year period: rarity of γc-chain deficiency (X-linked) type.

Michos A, Tzanoudaki M, Villa A, Giliani S, Chrousos G, Kanariou M.

J Clin Immunol. 2011 Oct;31(5):778-83. doi: 10.1007/s10875-011-9564-0.

PMID:
21732012
14.

Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray.

Lebet T, Chiles R, Hsu AP, Mansfield ES, Warrington JA, Puck JM.

Genet Med. 2008 Aug;10(8):575-85. doi: 10.1097GIM.0b013e31818063bc.

PMID:
18641513
15.

Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.

Morinishi Y, Imai K, Nakagawa N, Sato H, Horiuchi K, Ohtsuka Y, Kaneda Y, Taga T, Hisakawa H, Miyaji R, Endo M, Oh-Ishi T, Kamachi Y, Akahane K, Kobayashi C, Tsuchida M, Morio T, Sasahara Y, Kumaki S, Ishigaki K, Yoshida M, Urabe T, Kobayashi N, Okimoto Y, Reichenbach J, Hashii Y, Tsuji Y, Kogawa K, Yamaguchi S, Kanegane H, Miyawaki T, Yamada M, Ariga T, Nonoyama S.

J Pediatr. 2009 Dec;155(6):829-33. doi: 10.1016/j.jpeds.2009.05.026.

PMID:
19628217
16.

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.

PMID:
21131235
17.

Defining combined immunodeficiency.

Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E.

J Allergy Clin Immunol. 2012 Jul;130(1):177-83. doi: 10.1016/j.jaci.2012.04.029.

PMID:
22664165
18.

Three-dimensional clustering of human RAG2 gene mutations in severe combined immune deficiency.

Corneo B, Moshous D, Callebaut I, de Chasseval R, Fischer A, de Villartay JP.

J Biol Chem. 2000 Apr 28;275(17):12672-5.

19.

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.

PMID:
25869295
20.
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