BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

128 related articles for article (PubMed ID: 8541866)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.
    O'Marcaigh AS; Puck JM; Pepper AE; De Santes K; Cowan MJ
    J Clin Immunol; 1997 Jan; 17(1):29-33. PubMed ID: 9049783
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells.
    Stephan V; Wahn V; Le Deist F; Dirksen U; Broker B; Müller-Fleckenstein I; Horneff G; Schroten H; Fischer A; de Saint Basile G
    N Engl J Med; 1996 Nov; 335(21):1563-7. PubMed ID: 8900089
    [No Abstract]   [Full Text] [Related]  

  • 14. 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]  

  • 15. Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).
    Kumaki S; Ishii N; Minegishi M; Ohashi Y; Hakozaki I; Nonoyama S; Imai K; Morio T; Tsuge I; Sakiyama Y; Miyanoshita A; Miura J; Mayumi M; Heike T; Katamura K; Takada H; Izumi I; Kamizono J; Hibi S; Sasaki H; Kimura M; Kikuta A; Date Y; Sako M; Tanaka H; Sano K; Sugamura K; Tsuchiya S
    Hum Genet; 2000 Oct; 107(4):406-8. PubMed ID: 11129345
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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. PubMed ID: 18641513
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Haemophagocytic lymphohistiocytosis in X-linked severe combined immunodeficiency.
    Grunebaum E; Zhang J; Dadi H; Roifman CM
    Br J Haematol; 2000 Mar; 108(4):834-7. PubMed ID: 10792291
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.