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 *

122 related articles for article (PubMed ID: 9790760)

  • 1. Nonhomologous recombination between the cytochrome b558 heavy chain gene (CYBB) and LINE-1 causes an X-linked chronic granulomatous disease.
    Kumatori A; Faizunnessa NN; Suzuki S; Moriuchi T; Kurozumi H; Nakamura M
    Genomics; 1998 Oct; 53(2):123-8. PubMed ID: 9790760
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A 25-kb deletion in the 5' region of the cytochrome b558 heavy chain gene (CYBB) in a patient with X-linked chronic granulomatous disease.
    Faizunnessa NN; Tsuchiya T; Kumatori A; Kurozumi H; Imajoh-Ohmi S; Kanegasaki S; Nakamura M
    Hum Genet; 1997 Apr; 99(4):469-73. PubMed ID: 9099835
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Analysis of three deletion breakpoints in Xp21.1 and the further localization of RP3.
    Brown J; Dry KL; Edgar AJ; Pryde FE; Hardwick LJ; Aldred MA; Lester DH; Boyle S; Kaplan J; Dufier JL; Ho MF; Monaco AM; Musarella MA; Wright AF
    Genomics; 1996 Oct; 37(2):200-10. PubMed ID: 8921393
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4.
    Stasia MJ; Bordigoni P; Martel C; Morel F
    Hum Genet; 2002 May; 110(5):444-50. PubMed ID: 12073015
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene).
    Gérard B; El Benna J; Alcain F; Gougerot-Pocidalo MA; Grandchamp B; Chollet-Martin S
    Hum Mutat; 2001 Aug; 18(2):163. PubMed ID: 11462241
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Emerin deletion reveals a common X-chromosome inversion mediated by inverted repeats.
    Small K; Iber J; Warren ST
    Nat Genet; 1997 May; 16(1):96-9. PubMed ID: 9140403
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245.
    Teahan C; Rowe P; Parker P; Totty N; Segal AW
    Nature; 1987 Jun 25-Jul 1; 327(6124):720-1. PubMed ID: 3600769
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Determination of the deletion breakpoints in two patients with contiguous gene syndrome encompassing CYBB gene.
    Yamada M; Arai T; Oishi T; Hatano N; Kobayashi I; Kubota M; Suzuki N; Yoda M; Kawamura N; Ariga T
    Eur J Med Genet; 2010; 53(6):383-8. PubMed ID: 20813210
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Human peripheral eosinophils have a specific mechanism to express gp91-phox, the large subunit of cytochrome b558.
    Kuribayashi F; Kumatori A; Suzuki S; Nakamura M; Matsumoto T; Tsuji Y
    Biochem Biophys Res Commun; 1995 Apr; 209(1):146-52. PubMed ID: 7726828
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Characterization of 17 new cases of X-linked chronic granulomatous disease with seven novel mutations in the CYBB gene.
    von Goessel H; Hossle JP; Seger R; Gungor T
    Exp Hematol; 2006 Apr; 34(4):528-35. PubMed ID: 16569599
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease.
    Meischl C; Boer M; Ahlin A; Roos D
    Eur J Hum Genet; 2000 Sep; 8(9):697-703. PubMed ID: 10980575
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination?
    Hiltunen M; Helisalmi S; Mannermaa A; Alafuzoff I; Koivisto AM; Lehtovirta M; Pirskanen M; Sulkava R; Verkkoniemi A; Soininen H
    Eur J Hum Genet; 2000 Apr; 8(4):259-66. PubMed ID: 10854108
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD).
    Rump A; Rösen-Wolff A; Gahr M; Seidenberg J; Roos C; Walter L; Günther V; Roesler J
    Gene; 2006 Apr; 371(2):174-81. PubMed ID: 16516412
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Severe clinical forms of cytochrome b-negative chronic granulomatous disease (X91-) in 3 brothers with a point mutation in the promoter region of CYBB.
    Stasia MJ; Brion JP; Boutonnat J; Morel F
    J Infect Dis; 2003 Nov; 188(10):1593-604. PubMed ID: 14624387
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Chronic granulomatous disease: mutations in cytochrome b558.
    Roos D; De Boer M; De Klein A; Bolscher BG; Weening RS
    Immunodeficiency; 1993; 4(1-4):289-301. PubMed ID: 8167720
    [No Abstract]   [Full Text] [Related]  

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

  • 17. Two distinct deletions in the IDS gene and the gene W: a novel type of mutation associated with the Hunter syndrome.
    Karsten SL; Lagerstedt K; Carlberg BM; Kleijer WJ; Zaremba J; Van Diggelen OP; Czartoryska B; Pettersson U; Bondeson ML
    Genomics; 1997 Jul; 43(2):123-9. PubMed ID: 9244428
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs.
    Abeysinghe SS; Chuzhanova N; Krawczak M; Ball EV; Cooper DN
    Hum Mutat; 2003 Sep; 22(3):229-44. PubMed ID: 12938088
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Somatic triple mosaicism in a carrier of X-linked chronic granulomatous disease.
    de Boer M; Bakker E; Van Lierde S; Roos D
    Blood; 1998 Jan; 91(1):252-7. PubMed ID: 9414292
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease.
    Ariga T; Sakiyama Y; Tomizawa K; Imajoh-Ohmi S; Kanegasaki S; Matsumoto S
    Eur J Pediatr; 1993 Jun; 152(6):469-72. PubMed ID: 8101486
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.