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Items: 1 to 20 of 83

1.

Primary immunodeficiency caused by an exonized retroposed gene copy inserted in the CYBB gene.

de Boer M, van Leeuwen K, Geissler J, Weemaes CM, van den Berg TK, Kuijpers TW, Warris A, Roos D.

Hum Mutat. 2014 Apr;35(4):486-96. doi: 10.1002/humu.22519. Epub 2014 Feb 24.

PMID:
24478191
2.

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.

PMID:
11511930
3.
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 1;105(1):61-6. Epub 2004 Aug 12.

5.

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 26;371(2):174-81. Epub 2006 Mar 3.

PMID:
16516412
7.

Evidence consistent with human L1 retrotransposition in maternal meiosis I.

Brouha B, Meischl C, Ostertag E, de Boer M, Zhang Y, Neijens H, Roos D, Kazazian HH Jr.

Am J Hum Genet. 2002 Aug;71(2):327-36. Epub 2002 Jul 1.

8.

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 1;91(1):252-7.

9.

Adult onset X-linked chronic granulomatous disease in a woman patient caused by a de novo mutation in paternal-origin CYBB gene and skewed inactivation of normal maternal X chromosome.

Gono T, Yazaki M, Agematsu K, Matsuda M, Yasui K, Yamaura M, Hidaka F, Mizukami T, Nunoi H, Kubota T, Ikeda S.

Intern Med. 2008;47(11):1053-6. Epub 2008 Jun 2.

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.

PMID:
16569599
11.

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.

PMID:
9099835
12.

Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells.

Yamada M, Okura Y, Suzuki Y, Fukumura S, Miyazaki T, Ikeda H, Takezaki S, Kawamura N, Kobayashi I, Ariga T.

Gene. 2012 Apr 10;497(1):110-5. doi: 10.1016/j.gene.2012.01.019. Epub 2012 Jan 28.

PMID:
22305980
13.

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. doi: 10.1371/journal.pone.0027782. Epub 2012 Feb 27.

14.

[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. Epub 2006 Nov 14. Spanish.

15.
16.

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 1;25(2):321-330. doi: 10.1016/j.ymthe.2016.11.012.

17.

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 15;53(2):123-8.

PMID:
9790760
18.

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 Nov-Dec;53(6):383-8. doi: 10.1016/j.ejmg.2010.08.003. Epub 2010 Sep 21.

PMID:
20813210
20.

Clinical evaluation of interferon-gamma treatment to chronic granulomatous disease patients with splice site mutations.

Nunoi H, Ishibashi F, Mizukami T, Hidaka F.

Jpn J Infect Dis. 2004 Oct;57(5):S25-6.

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