These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 22382877)

  • 1. Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families.
    Stasia MJ; van Leeuwen K; de Boer M; Martel C; Mollin M; Thuret I; Michel G; Hanson C; Augustine NH; Coutton C; Satre V; Wittwer CT; Hill H; Roos D
    J Clin Immunol; 2012 Aug; 32(4):653-62. PubMed ID: 22382877
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Copy number variations due to large genomic deletion in X-linked chronic granulomatous disease.
    Arai T; Oh-ishi T; Yamamoto H; Nunoi H; Kamizono J; Uehara M; Kubota T; Sakurai T; Kizaki T; Ohno H
    PLoS One; 2012; 7(2):e27782. PubMed ID: 22383943
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.
    Martel C; Mollin M; Beaumel S; Brion JP; Coutton C; Satre V; Vieville G; Callanan M; Lefebvre C; Salmon A; Pagnier A; Plantaz D; Bost-Bru C; Eitenschenck L; Durieu I; Floret D; Galambrun C; Chambost H; Michel G; Stephan JL; Hermine O; Blanche S; Blot N; Rubié H; Pouessel G; Drillon-Haus S; Conrad B; Posfay-Barbe KM; Havlicekova Z; Voskresenky-Baricic T; Jadranka K; Arriazu MC; Garcia LA; Sfaihi L; Bordigoni P; Stasia MJ
    J Clin Immunol; 2012 Oct; 32(5):942-58. PubMed ID: 22562447
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB.
    Wolach B; Scharf Y; Gavrieli R; de Boer M; Roos D
    Blood; 2005 Jan; 105(1):61-6. PubMed ID: 15308575
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study.
    Di Matteo G; Giordani L; Finocchi A; Ventura A; Chiriaco M; Blancato J; Sinibaldi C; Plebani A; Soresina A; Pignata C; Dellepiane RM; Trizzino A; Cossu F; Rondelli R; Rossi P; De Mattia D; Martire B;
    Mol Immunol; 2009 Jun; 46(10):1935-41. PubMed ID: 19410294
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Report of a new mutation in CYBB gene in two patients with X linked chronic granulomatous disease].
    Agudelo-Flórez P; Navarro S; Luttges P; López JA; Norambuena X; Navarrete S CL; Quezada A; Spencer M; Condino-Neto A; Cornejo de M
    Rev Med Chil; 2006 Aug; 134(8):965-72. PubMed ID: 17130983
    [TBL] [Abstract][Full Text] [Related]  

  • 7. An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease.
    Noack D; Heyworth PG; Newburger PE; Cross AR
    Biochim Biophys Acta; 2001 Sep; 1537(2):125-31. PubMed ID: 11566256
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Targeted Repair of CYBB in X-CGD iPSCs Requires Retention of Intronic Sequences for Expression and Functional Correction.
    Sweeney CL; Zou J; Choi U; Merling RK; Liu A; Bodansky A; Burkett S; Kim JW; De Ravin SS; Malech HL
    Mol Ther; 2017 Feb; 25(2):321-330. PubMed ID: 28153086
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Hematologically important mutations: X-linked chronic granulomatous disease (third update).
    Roos D; Kuhns DB; Maddalena A; Roesler J; Lopez JA; Ariga T; Avcin T; de Boer M; Bustamante J; Condino-Neto A; Di Matteo G; He J; Hill HR; Holland SM; Kannengiesser C; Köker MY; Kondratenko I; van Leeuwen K; Malech HL; Marodi L; Nunoi H; Stasia MJ; Ventura AM; Witwer CT; Wolach B; Gallin JI
    Blood Cells Mol Dis; 2010 Oct; 45(3):246-65. PubMed ID: 20729109
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of six novel mutations in the CYBB gene leading to different sub-types of X-linked chronic granulomatous disease.
    Stasia MJ; Bordigoni P; Floret D; Brion JP; Bost-Bru C; Michel G; Gatel P; Durant-Vital D; Voelckel MA; Li XJ; Guillot M; Maquet E; Martel C; Morel F
    Hum Genet; 2005 Jan; 116(1-2):72-82. PubMed ID: 15538631
    [TBL] [Abstract][Full Text] [Related]  

  • 11. X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation.
    Lewis EM; Singla M; Sergeant S; Koty PP; McPhail LC
    Clin Immunol; 2008 Nov; 129(2):372-80. PubMed ID: 18774749
    [TBL] [Abstract][Full Text] [Related]  

  • 12. X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase.
    Rae J; Newburger PE; Dinauer MC; Noack D; Hopkins PJ; Kuruto R; Curnutte JT
    Am J Hum Genet; 1998 Jun; 62(6):1320-31. PubMed ID: 9585602
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Different unequal cross-over events between NCF1 and its pseudogenes in autosomal p47(phox)-deficient chronic granulomatous disease.
    Hayrapetyan A; Dencher PC; van Leeuwen K; de Boer M; Roos D
    Biochim Biophys Acta; 2013 Oct; 1832(10):1662-72. PubMed ID: 23688784
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical, functional and genetic characterization of 16 patients suffering from chronic granulomatous disease variants - identification of 11 novel mutations in CYBB.
    Mollin M; Beaumel S; Vigne B; Brault J; Roux-Buisson N; Rendu J; Barlogis V; Catho G; Dumeril C; Fouyssac F; Monnier D; Gandemer V; Revest M; Brion JP; Bost-Bru C; Jeziorski E; Eitenschenck L; Jarrasse C; Drillon Haus S; Houachée-Chardin M; Hancart M; Michel G; Bertrand Y; Plantaz D; Kelecic J; Traberg R; Kainulainen L; Fauré J; Fieschi F; Stasia MJ
    Clin Exp Immunol; 2021 Feb; 203(2):247-266. PubMed ID: 32954498
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A second case of somatic triple mosaicism in the CYBB gene causing chronic granulomatous disease.
    Noack D; Heyworth PG; Kyono W; Cross AR
    Hum Genet; 2001 Aug; 109(2):234-8. PubMed ID: 11511930
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Interferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation.
    Condino-Neto A; Newburger PE
    Blood; 2000 Jun; 95(11):3548-54. PubMed ID: 10828042
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Two X-linked chronic granulomatous disease patients with unusual NADPH oxidase properties.
    Wolach B; Broides A; Zeeli T; Gavrieli R; de Boer M; van Leeuwen K; Levy J; Roos D
    J Clin Immunol; 2011 Aug; 31(4):560-6. PubMed ID: 21604087
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Point mutations in the promoter region of the CYBB gene leading to mild chronic granulomatous disease.
    Weening RS; De Boer M; Kuijpers TW; Neefjes VM; Hack WW; Roos D
    Clin Exp Immunol; 2000 Dec; 122(3):410-7. PubMed ID: 11122248
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel missense mutation in the NADPH binding domain of CYBB abolishes the NADPH oxidase activity in a male patient with increased susceptibility to infections.
    Khan TA; Kalsoom K; Iqbal A; Asif H; Rahman H; Farooq SO; Naveed H; Nasir U; Amin MU; Hussain M; Tipu HN; Florea A
    Microb Pathog; 2016 Nov; 100():163-169. PubMed ID: 27666509
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox.
    Patiño PJ; Rae J; Noack D; Erickson R; Ding J; de Olarte DG; Curnutte JT
    Blood; 1999 Oct; 94(7):2505-14. PubMed ID: 10498624
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.