BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

249 related articles for article (PubMed ID: 8401490)

  • 1. 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. PubMed ID: 8401490
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells.
    DiSanto JP; Rieux-Laucat F; Dautry-Varsat A; Fischer A; de Saint Basile G
    Proc Natl Acad Sci U S A; 1994 Sep; 91(20):9466-70. PubMed ID: 7937790
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding.
    DiSanto JP; Dautry-Varsat A; Certain S; Fischer A; de Saint Basile G
    Eur J Immunol; 1994 Feb; 24(2):475-9. PubMed ID: 8299698
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.
    Pepper AE; Buckley RH; Small TN; Puck JM
    Am J Hum Genet; 1995 Sep; 57(3):564-71. PubMed ID: 7668284
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis.
    Clark PA; Lester T; Genet S; Jones AM; Hendriks R; Levinsky RJ; Kinnon C
    Hum Genet; 1995 Oct; 96(4):427-32. PubMed ID: 7557965
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 89(6):1968-77. PubMed ID: 9058718
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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. PubMed ID: 9633906
    [TBL] [Abstract][Full Text] [Related]  

  • 10. B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation.
    Jones AM; Clark PA; Katz F; Genet S; McMahon C; Alterman L; Cant A; Kinnon C
    Hum Genet; 1997 May; 99(5):677-80. PubMed ID: 9150740
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency.
    Niemela JE; Puck JM; Fischer RE; Fleisher TA; Hsu AP
    Clin Immunol; 2000 Apr; 95(1 Pt 1):33-8. PubMed ID: 10794430
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Three novel mutations in the interleukin-2 receptor gamma chain gene in four Japanese patients with X-linked severe combined immunodeficiency.
    Minegishi Y; Ishii N; Maeda H; Takagi S; Tsuchida M; Okawa H; Sugamura K; Yata J
    Hum Genet; 1995 Dec; 96(6):681-3. PubMed ID: 8522327
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Intronic point mutation in the IL2RG gene causing X-linked severe combined immunodeficiency.
    Tassara C; Pepper AE; Puck JM
    Hum Mol Genet; 1995 Sep; 4(9):1693-5. PubMed ID: 8541866
    [No Abstract]   [Full Text] [Related]  

  • 14. Refinement of linkage of human severe combined immunodeficiency (SCIDX1) to polymorphic markers in Xq13.
    Puck JM; Conley ME; Bailey LC
    Am J Hum Genet; 1993 Jul; 53(1):176-84. PubMed ID: 8317482
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans.
    Noguchi M; Yi H; Rosenblatt HM; Filipovich AH; Adelstein S; Modi WS; McBride OW; Leonard WJ
    Cell; 1993 Apr; 73(1):147-57. PubMed ID: 8462096
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Characterization of cDNAs encoding the murine interleukin 2 receptor (IL-2R) gamma chain: chromosomal mapping and tissue specificity of IL-2R gamma chain expression.
    Cao X; Kozak CA; Liu YJ; Noguchi M; O'Connell E; Leonard WJ
    Proc Natl Acad Sci U S A; 1993 Sep; 90(18):8464-8. PubMed ID: 8378320
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing.
    Markiewicz S; Subtil A; Dautry-Varsat A; Fischer A; de Saint Basile G
    Genomics; 1994 May; 21(1):291-3. PubMed ID: 8088810
    [No Abstract]   [Full Text] [Related]  

  • 18. Fine mapping of the human SCIDX1 locus at Xq12-13.1.
    Markiewicz S; DiSanto JP; Chelly J; Fairweather N; Le Marec B; Griscelli C; Graeber MB; Müller U; Fischer A; Monaco AP
    Hum Mol Genet; 1993 Jun; 2(6):651-4. PubMed ID: 8353486
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency.
    Fugmann SD; Müller S; Friedrich W; Bartram CR; Schwarz K
    Hum Genet; 1998 Dec; 103(6):730-1. PubMed ID: 9921912
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.