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Journal Abstract Search

337 related items for PubMed ID: 15025726

  • 1. 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. PubMed ID: 15025726
    [Abstract] [Full Text] [Related]

  • 2. 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. PubMed ID: 21624848
    [Abstract] [Full Text] [Related]

  • 3. Evolution of a T-B- SCID into an Omenn syndrome phenotype following parainfluenza 3 virus infection.
    Dalal I, Tabori U, Bielorai B, Golan H, Rosenthal E, Amariglio N, Rechavi G, Toren A.
    Clin Immunol; 2005 Apr; 115(1):70-3. PubMed ID: 15870023
    [Abstract] [Full Text] [Related]

  • 4. 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. PubMed ID: 21131235
    [Abstract] [Full Text] [Related]

  • 5. 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. PubMed ID: 25869295
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  • 8. Phenotypical heterogeneity in RAG-deficient patients from a highly consanguineous population.
    Meshaal SS, El Hawary RE, Abd Elaziz DS, Eldash A, Alkady R, Lotfy S, Mauracher AA, Opitz L, Pachlopnik Schmid J, van der Burg M, Chou J, Galal NM, Boutros JA, Geha R, Elmarsafy AM.
    Clin Exp Immunol; 2019 Feb; 195(2):202-212. PubMed ID: 30307608
    [Abstract] [Full Text] [Related]

  • 9. 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. PubMed ID: 21625022
    [Abstract] [Full Text] [Related]

  • 10. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 11. RAG-dependent primary immunodeficiencies.
    Sobacchi C, Marrella V, Rucci F, Vezzoni P, Villa A.
    Hum Mutat; 2006 Dec; 27(12):1174-84. PubMed ID: 16960852
    [Abstract] [Full Text] [Related]

  • 12. Prenatal diagnosis of RAG-deficient Omenn syndrome.
    Villa A, Bozzi F, Sobacchi C, Strina D, Fasth A, Pasic S, Notarangelo LD, Vezzoni P.
    Prenat Diagn; 2000 Jan; 20(1):56-9. PubMed ID: 10701853
    [Abstract] [Full Text] [Related]

  • 13. From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family.
    Martinez-Martinez L, Vazquez-Ortiz M, Gonzalez-Santesteban C, Martin-Nalda A, Vicente A, Plaza AM, Badell I, Alsina L, de la Calle-Martin O.
    Pediatr Allergy Immunol; 2012 Nov; 23(7):660-6. PubMed ID: 22882342
    [Abstract] [Full Text] [Related]

  • 14. Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.
    Gruber TA, Shah AJ, Hernandez M, Crooks GM, Abdel-Azim H, Gupta S, McKnight S, White D, Kapoor N, Kohn DB.
    Pediatr Transplant; 2009 Mar; 13(2):244-50. PubMed ID: 18822103
    [Abstract] [Full Text] [Related]

  • 15. 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. PubMed ID: 19912631
    [Abstract] [Full Text] [Related]

  • 16. More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.
    Niehues T, Perez-Becker R, Schuetz C.
    Clin Immunol; 2010 May 13; 135(2):183-92. PubMed ID: 20172764
    [Abstract] [Full Text] [Related]

  • 17. Evidence for defects in V(D)J rearrangements in patients with severe combined immunodeficiency.
    Abe T, Tsuge I, Kamachi Y, Torii S, Utsumi K, Akahori Y, Ichihara Y, Kurosawa Y, Matsuoka H.
    J Immunol; 1994 Jun 01; 152(11):5504-13. PubMed ID: 8189068
    [Abstract] [Full Text] [Related]

  • 18. Clinical, immunologic, and genetic characteristics of RAG mutations in 15 Chinese patients with SCID and Omenn syndrome.
    Bai X, Liu J, Zhang Z, Liu C, Zhang Y, Tang W, Dai R, Wu J, Tang X, Zhang Y, Ding Y, Jiang L, Zhao X.
    Immunol Res; 2016 Apr 01; 64(2):497-507. PubMed ID: 26476733
    [Abstract] [Full Text] [Related]

  • 19. PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
    Bergmann C, Senderek J, Schneider F, Dornia C, Küpper F, Eggermann T, Rudnik-Schöneborn S, Kirfel J, Moser M, Büttner R, Zerres K.
    Hum Mutat; 2004 May 01; 23(5):487-95. PubMed ID: 15108281
    [Abstract] [Full Text] [Related]

  • 20. Omenn's syndrome occurring in patients without mutations in recombination activating genes.
    Gennery AR, Hodges E, Williams AP, Harris S, Villa A, Angus B, Cant AJ, Smith JL.
    Clin Immunol; 2005 Sep 01; 116(3):246-56. PubMed ID: 15964782
    [Abstract] [Full Text] [Related]

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