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Journal Abstract Search

101 related items for PubMed ID: 19830075

  • 1. Homozygous R396H mutation of the RAG1 gene in a Saudi infant with Omenn's syndrome: a case report.
    Al Balwi M, Al Ajaji S, Al Abdulkareem I, Hajeer A.
    Cases J; 2009 Jul 30; 2():8391. PubMed ID: 19830075
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  • 2. Novel RAG1 mutation in a case of severe combined immunodeficiency.
    Zhang J, Quintal L, Atkinson A, Williams B, Grunebaum E, Roifman CM.
    Pediatrics; 2005 Sep 30; 116(3):e445-9. PubMed ID: 16061569
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  • 3. N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.
    Santagata S, Gomez CA, Sobacchi C, Bozzi F, Abinun M, Pasic S, Cortes P, Vezzoni P, Villa A.
    Proc Natl Acad Sci U S A; 2000 Dec 19; 97(26):14572-7. PubMed ID: 11121059
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  • 4. 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 19; 65(4):322-6. PubMed ID: 15025726
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  • 5. 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
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  • 6. A variant of RAG1 gene identified in severe combined immunodeficiency: a case report.
    Zhang X, Kang X, Yang M, Cai Z, Song Y, Zhou X, Cao J, Wang C, Huang K, Peng Y, He J, Xiao Z.
    BMC Pediatr; 2023 Feb 03; 23(1):56. PubMed ID: 36732712
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  • 7. A Homozygous RAG1 Gene Mutation in a Case of Combined Immunodeficiency: Clinical, Molecular, and Computational Analysis.
    Essadssi S, Benhsaien I, Bakhchane A, Charoute H, Abdelghaffar H, Bousfiha AA, Barakat A.
    Hum Hered; 2019 Feb 03; 84(6):272-278. PubMed ID: 33075768
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  • 8. Oligoclonal expansion of T lymphocytes with multiple second-site mutations leads to Omenn syndrome in a patient with RAG1-deficient severe combined immunodeficiency.
    Wada T, Toma T, Okamoto H, Kasahara Y, Koizumi S, Agematsu K, Kimura H, Shimada A, Hayashi Y, Kato M, Yachie A.
    Blood; 2005 Sep 15; 106(6):2099-101. PubMed ID: 15845893
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  • 13. Omenn's Syndrome: A rare primary immunodeficiency disorder.
    Elnour IB, Ahmed S, Halim K, Nirmala V.
    Sultan Qaboos Univ Med J; 2007 Aug 15; 7(2):133-8. PubMed ID: 21748095
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  • 14. Omenn's reticulosis associated with the nephrotic syndrome.
    Rybojad M, Cambiaghi S, Moraillon I, Vignon-Pennmen MD, Morel P, Baudoin V, Loirat C.
    Br J Dermatol; 1996 Jul 15; 135(1):124-7. PubMed ID: 8776375
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  • 19. [Neonatal erythrodermia - early manifestation of Omenn's syndrome].
    Wozniakowska-Gesicka T, Wisniewska-Ligier M, Borowska-Rybus B.
    Med Wieku Rozwoj; 2002 Jul 15; 6(1):23-9. PubMed ID: 12177510
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  • 20. Collaboration of RAG2 with RAG1-like proteins during the evolution of V(D)J recombination.
    Carmona LM, Fugmann SD, Schatz DG.
    Genes Dev; 2016 Apr 15; 30(8):909-17. PubMed ID: 27056670
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