BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 33964732)

  • 1. Omenn syndrome caused by a novel homozygous mutation in recombination activating gene 1.
    Benhsaien I; Essadssi S; Elkhattabi L; Bakhchane A; Abdelghaffar H; Bousfiha AA; Badou A; Barakat A
    Immunobiology; 2021 May; 226(3):152090. PubMed ID: 33964732
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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; 10():116. PubMed ID: 19912631
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.
    Zhang ZY; Zhao XD; Jiang LP; Liu EM; Cui YX; Wang M; Wei H; Yu J; An YF; Yang XQ
    Pediatr Allergy Immunol; 2011 Aug; 22(5):482-7. PubMed ID: 21771083
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Whole-exome sequencing identified a homozygous novel
    Wang W; Wang J; Wang J; Liu J; Pei J; Li W; Wang Y; Banerjee S; Xu R; Meng Z; Yi B
    Allergol Immunopathol (Madr); 2022; 50(6):32-46. PubMed ID: 36335443
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Characterization of immune function and analysis of RAG gene mutations in Omenn syndrome and related disorders.
    Wada T; Takei K; Kudo M; Shimura S; Kasahara Y; Koizumi S; Kawa-Ha K; Ishida Y; Imashuku S; Seki H; Yachie A
    Clin Exp Immunol; 2000 Jan; 119(1):148-55. PubMed ID: 10606976
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Clinical phenotype and gene diagnostic analysis of Omenn syndrome].
    Wang YQ; Cui YX; Feng J
    Zhonghua Er Ke Za Zhi; 2013 Jan; 51(1):64-8. PubMed ID: 23527934
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Omenn syndrome with mutation in RAG1 gene.
    Jaouad IC; Ouldim K; Ali Ou Alla S; Kriouile Y; Villa A; Sefiani A
    Indian J Pediatr; 2008 Sep; 75(9):944-6. PubMed ID: 19011808
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes.
    IJspeert H; Driessen GJ; Moorhouse MJ; Hartwig NG; Wolska-Kusnierz B; Kalwak K; Pituch-Noworolska A; Kondratenko I; van Montfrans JM; Mejstrikova E; Lankester AC; Langerak AW; van Gent DC; Stubbs AP; van Dongen JJ; van der Burg M
    J Allergy Clin Immunol; 2014 Apr; 133(4):1124-33. PubMed ID: 24418478
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome.
    Corneo B; Moshous D; Güngör T; Wulffraat N; Philippet P; Le Deist FL; Fischer A; de Villartay JP
    Blood; 2001 May; 97(9):2772-6. PubMed ID: 11313270
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Omenn Syndrome due to RAG1 Mutation Presenting With Nonimmune Hydrops Fetalis in Two Siblings.
    Valeri L; Lugli L; Iughetti L; Soresina A; Giliani S; Porta F; Berardi A
    Pediatrics; 2022 Jan; 149(1):. PubMed ID: 34889447
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel homozygous
    Melika S; Hossein E; Mona S; Elham R; Samaneh Z; Sepideh S; Raul Jimenez H; Ana K; Kaan B; Nima R
    Allergol Immunopathol (Madr); 2021; 49(4):91-97. PubMed ID: 34224223
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Clinical characteristics of human recombination activating gene 1 mutations in 8 immunodeficiency patients with diverse phenotypes].
    Yu G; Wang WJ; Liu DR; Tao ZF; Hui XY; Hou J; Sun JQ; Wang XC
    Zhonghua Er Ke Za Zhi; 2018 Mar; 56(3):186-191. PubMed ID: 29518828
    [No Abstract]   [Full Text] [Related]  

  • 13. Compound heterozygous DCLRE1C mutations lead to clinically typical Severe Combined Immunodeficiency presenting with Graft Versus Host Disease.
    Mou W; Gao L; He J; Yin J; Xu B; Gui J
    Immunogenetics; 2021 Dec; 73(6):425-434. PubMed ID: 34406419
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Omenn syndrome in an infant with IL7RA gene mutation.
    Giliani S; Bonfim C; de Saint Basile G; Lanzi G; Brousse N; Koliski A; Malvezzi M; Fischer A; Notarangelo LD; Le Deist F
    J Pediatr; 2006 Feb; 148(2):272-4. PubMed ID: 16492442
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 116(3):e445-9. PubMed ID: 16061569
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.
    Mou W; Yang Z; Wang X; Hei M; Wang Y; Gui J
    Immunogenetics; 2023 Aug; 75(4):385-393. PubMed ID: 37269334
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 64(2):497-507. PubMed ID: 26476733
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.
    Gennery AR; Slatter MA; Rice J; Hoefsloot LH; Barge D; McLean-Tooke A; Montgomery T; Goodship JA; Burt AD; Flood TJ; Abinun M; Cant AJ; Johnson D
    Clin Exp Immunol; 2008 Jul; 153(1):75-80. PubMed ID: 18505430
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.
    Kato M; Kimura H; Seki M; Shimada A; Hayashi Y; Morio T; Kumaki S; Ishida Y; Kamachi Y; Yachie A
    Allergol Int; 2006 Jun; 55(2):115-9. PubMed ID: 17075247
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 106(6):2099-101. PubMed ID: 15845893
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.