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Items: 1 to 20 of 131

1.

[Mutation analyses and prenatal diagnosis in two families of X linked severe combined immunodeficiency caused by IL2RG gene novel mutation].

Kong X, Liu N, Xu X, Wu Q, Zhao Z, Bai Q, Meng J.

Zhonghua Yi Xue Za Zhi. 2014 Apr 29;94(16):1227-31. Chinese.

PMID:
24924886
2.

Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rγ gene novel mutation.

Bai QL, Liu N, Kong XD, Xu XJ, Zhao ZH.

Genet Mol Res. 2015 Jun 11;14(2):6164-72. doi: 10.4238/2015.June.9.2.

3.

[Mutation analysis and prenatal diagnosis of a Chinese family with X-linked severe combined immunodeficiency].

Wu QH, Shi HR, Liu N, Jiang M, Lu N, Zhao ZH, Kong XD.

Zhonghua Er Ke Za Zhi. 2012 Nov;50(11):851-4. Chinese.

PMID:
23302618
4.

[Mutation analysis and prenatal diagnosis in families of X-linked agammaglobulinemia caused by BTK gene mutation].

Kong X, Mo G, Liu N, Tian P, Chen M.

Zhonghua Yi Xue Za Zhi. 2014 May 13;94(18):1405-8. Chinese.

PMID:
25142992
5.
6.

[Mutation analysis of WASP gene and prenatal diagnosis of Wiskott-Aldrich syndrome].

Liu N, Shi H, Kong X, Wu Q, Xu X, Bai Q, Feng Y, Zhao Z.

Zhonghua Er Ke Za Zhi. 2014 Sep;52(9):662-6. Chinese.

PMID:
25476427
7.

A novel common gamma chain mutation in a Chinese family with X-linked severe combined immunodeficiency (X-SCID; T(-)NK(-)B(+)).

Tan W, Yu S, Lei J, Wu B, Wu C.

Immunogenetics. 2015 Nov;67(11-12):629-39. doi: 10.1007/s00251-015-0871-0. Epub 2015 Sep 26.

PMID:
26409833
8.

Alport syndrome. Molecular genetic aspects.

Hertz JM.

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

PMID:
19728970
9.

A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype.

Mou W, He J, Chen X, Zhang H, Ren X, Wu X, Ni X, Xu B, Gui J.

Immunogenetics. 2017 Jan;69(1):29-38. doi: 10.1007/s00251-016-0949-3. Epub 2016 Aug 26.

PMID:
27566612
10.
11.

Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria.

Kong XD, Shi HR, Liu N, Wu QH, Xu XJ, Zhao ZH, Lu N, Li-Ling J, Luo D.

Genet Mol Res. 2014 Oct 8;13(4):8234-40. doi: 10.4238/2014.October.8.5.

12.

Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1).

Wengler GS, Giliani S, Fiorini M, Mella P, Mantuano E, Zanola A, Pollonini G, Eibl MM, Ugazio AG, Notarangelo LD, Parolini O.

Br J Haematol. 1998 Jun;101(3):586-91.

PMID:
9633906
13.

Novel mutation of IL2RG gene in a Korean boy with X-linked severe combined immunodeficiency.

Lee YW, Yang EA, Kang HJ, Yang X, Mitsuiki N, Ohara O, Miyawaki T, Kanegane H, Lee JH.

J Investig Allergol Clin Immunol. 2013;23(1):65-7. No abstract available.

14.

A mutation in the IL-2 receptor gamma chain gene associated with X-linked severe combined immunodeficiency accompanying opisthotonus.

Kashiwagi Y, Kawashima H, Kato N, Takekuma K, Hoshika A, Kumaki S.

Tohoku J Exp Med. 2009 May;218(1):1-3.

15.

Mutation analysis of IL2RG in human X-linked severe combined immunodeficiency.

Puck JM, Pepper AE, Henthorn PS, Candotti F, Isakov J, Whitwam T, Conley ME, Fischer RE, Rosenblatt HM, Small TN, Buckley RH.

Blood. 1997 Mar 15;89(6):1968-77.

16.

Analysis of Mutations in the IL2RG Gene in 2 Asian Infants With X-linked Severe Combined Immunodeficiency.

Hara Y, Kobayashi N, Maruyama Y, Motobayashi M, Shigemura T, Ohara O, Agematsu K, Koike K.

J Investig Allergol Clin Immunol. 2015;25(4):313-5. No abstract available.

17.

[Early prenatal genetic diagnosis of oculocutaneous albinism type I in seven families].

Wu Q, Shi HR, Liu N, Lu N, Jiang M, Zhao ZH, Kong XD.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2012 Aug;29(4):377-81. doi: 10.3760/cma.j.issn.1003-9406.2012.04.001. Chinese.

PMID:
22875490
18.

The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

Puck JM, Deschênes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, Henthorn PS.

Hum Mol Genet. 1993 Aug;2(8):1099-104.

PMID:
8401490
19.

[Rapid genetic prenatal diagnosis for achondroplasia].

Zhu HY, Yang Y, Li J, Ru T, Hu YL.

Zhonghua Fu Chan Ke Za Zhi. 2008 Nov;43(11):810-3. Chinese.

PMID:
19087561
20.

A New IL-2RG Gene Mutation in an X-linked SCID Identified through TREC/KREC Screening: a Case Report.

Nourizadeh M, Borte S, Fazlollahi MR, Hammarström L, Pourpak Z.

Iran J Allergy Asthma Immunol. 2015 Aug;14(4):457-61.

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