124 related articles for article (PubMed ID: 23302618)
1. [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. PubMed ID: 23302618
[TBL] [Abstract][Full Text] [Related]
2. [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; 94(16):1227-31. PubMed ID: 24924886
[TBL] [Abstract][Full Text] [Related]
3. 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; 14(2):6164-72. PubMed ID: 26125817
[TBL] [Abstract][Full Text] [Related]
4. [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. PubMed ID: 25476427
[TBL] [Abstract][Full Text] [Related]
5. Identification of IL2RG and CYBB mutations in two Chinese primary immunodeficiency patients by whole-exome sequencing.
Xu S; Li Q; Wu J; Chen G; Zhu B; Gu W
Immunol Invest; 2018 Apr; 47(3):221-228. PubMed ID: 29388853
[TBL] [Abstract][Full Text] [Related]
6. Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
Tuovinen EA; Grönholm J; Öhman T; Pöysti S; Toivonen R; Kreutzman A; Heiskanen K; Trotta L; Toiviainen-Salo S; Routes JM; Verbsky J; Mustjoki S; Saarela J; Kere J; Varjosalo M; Hänninen A; Seppänen MRJ
J Clin Immunol; 2020 Apr; 40(3):503-514. PubMed ID: 32072341
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 27566612
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 26409833
[TBL] [Abstract][Full Text] [Related]
9. Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization.
Puck JM; Middelton L; Pepper AE
Hum Genet; 1997 May; 99(5):628-33. PubMed ID: 9150730
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 23653982
[No Abstract] [Full Text] [Related]
11. Case Report: A Novel IL2RG Frame-Restoring Rescue Mutation Mimics Early T Cell Engraftment Following Haploidentical Hematopoietic Stem Cell Transplantation in a Patient With X-SCID.
Steininger J; Leiss-Piller A; Geier CB; Rossmanith R; Elfeky R; Bra D; Pichler H; Lawitschka A; Zubarovskaya N; Artacker G; Matthes-Leodolter S; Eibl MM; Wolf HM
Front Immunol; 2021; 12():644687. PubMed ID: 33959125
[TBL] [Abstract][Full Text] [Related]
12. The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.
Arcas-García A; Garcia-Prat M; Magallón-Lorenz M; Martín-Nalda A; Drechsel O; Ossowski S; Alonso L; Rivière JG; Soler-Palacín P; Colobran R; Sayós J; Martínez-Gallo M; Franco-Jarava C
Clin Exp Immunol; 2020 Apr; 200(1):61-72. PubMed ID: 31799703
[TBL] [Abstract][Full Text] [Related]
13. Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.
Puck JM; Pepper AE; Bédard PM; Laframboise R
J Clin Invest; 1995 Feb; 95(2):895-9. PubMed ID: 7860773
[TBL] [Abstract][Full Text] [Related]
14. [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. PubMed ID: 19087561
[TBL] [Abstract][Full Text] [Related]
15. [Prenatal diagnosis and genetic counseling of X-linked Alport syndrome in China].
Zhang HW; Ding J; Wang F; Yang HX
Zhonghua Er Ke Za Zhi; 2007 Jul; 45(7):484-9. PubMed ID: 17953801
[TBL] [Abstract][Full Text] [Related]
16. Prenatal diagnosis and genetic counseling of a Chinese Alport syndrome kindred.
Zhang H; Ding J; Wang F; Yang H
Genet Test; 2008 Mar; 12(1):1-7. PubMed ID: 18373399
[TBL] [Abstract][Full Text] [Related]
17. T
Stepensky P; Keller B; Shamriz O; von Spee-Mayer C; Friedmann D; Shadur B; Unger S; Fuchs S; NaserEddin A; Rumman N; Amro S; Molho Pessach V; Abuzaitoun O; Somech R; Elpeleg O; Ehl S; Warnatz K
J Clin Immunol; 2018 May; 38(4):527-536. PubMed ID: 29948574
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 26310054
[No Abstract] [Full Text] [Related]
19. 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. PubMed ID: 21732012
[TBL] [Abstract][Full Text] [Related]
20. [Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II].
Jia B; Xue JJ; Liang DS; Wu LQ
Zhonghua Er Ke Za Zhi; 2009 Feb; 47(2):109-13. PubMed ID: 19573456
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
