136 related articles for article (PubMed ID: 9454688)
1. Hematologically important mutations: X-linked chronic granulomatous disease--an update.
Heyworth PG; Curnutte JT; Noack D; Cross AR
Blood Cells Mol Dis; 1997 Dec; 23(3):443-50. PubMed ID: 9454688
[No Abstract] [Full Text] [Related]
2. Hematologically important mutations: X-linked chronic granulomatous disease (second update).
Heyworth PG; Curnutte JT; Rae J; Noack D; Roos D; van Koppen E; Cross AR
Blood Cells Mol Dis; 2001; 27(1):16-26. PubMed ID: 11162142
[No Abstract] [Full Text] [Related]
3. 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]
4. 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]
5. Unusual late onset of X-linked chronic granulomatous disease in an adult woman after unsuspicious childhood.
Lun A; Roesler J; Renz H
Clin Chem; 2002 May; 48(5):780-1. PubMed ID: 11978610
[No Abstract] [Full Text] [Related]
6. Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease.
Roesler J; Heyden S; Burdelski M; Schäfer H; Kreth HW; Lehmann R; Paul D; Marzahn J; Gahr M; Rösen-Wolff A
Exp Hematol; 1999 Mar; 27(3):505-11. PubMed ID: 10089913
[TBL] [Abstract][Full Text] [Related]
7. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease.
Roos D; de Boer M; Kuribayashi F; Meischl C; Weening RS; Segal AW; Ahlin A; Nemet K; Hossle JP; Bernatowska-Matuszkiewicz E; Middleton-Price H
Blood; 1996 Mar; 87(5):1663-81. PubMed ID: 8634410
[No Abstract] [Full Text] [Related]
8. A novel polymorphism in the coding region of CYBB, the human gp91-phox gene.
Kuribayashi F; de Boer M; Leusen JH; Verhoeven AJ; Roos D
Hum Genet; 1996 May; 97(5):611-3. PubMed ID: 8655140
[TBL] [Abstract][Full Text] [Related]
9. An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity.
Jendrossek V; Ritzel A; Neubauer B; Heyden S; Gahr M
Eur J Haematol; 1997 Feb; 58(2):78-85. PubMed ID: 9111587
[TBL] [Abstract][Full Text] [Related]
10. A novel mutation at a probable heme-binding ligand in neutrophil cytochrome b558 in atypical X-linked chronic granulomatous disease.
Tsuda M; Kaneda M; Sakiyama T; Inana I; Owada M; Kiryu C; Shiraishi T; Kakinuma K
Hum Genet; 1998 Oct; 103(4):377-81. PubMed ID: 9856476
[TBL] [Abstract][Full Text] [Related]
11. Detection of gp91-phox precursor protein in B-cell lines from patients with X-linked chronic granulomatous disease as an indicator for mutations impairing cytochrome b558 biosynthesis.
Porter CD; Kuribayashi F; Parkar MH; Roos D; Kinnon C
Biochem J; 1996 Apr; 315 ( Pt 2)(Pt 2):571-5. PubMed ID: 8615831
[TBL] [Abstract][Full Text] [Related]
12. A 15-base pair (bp) palindromic insertion associated with a 3-bp deletion in exon 10 of the gp91-phox gene, detected in two patients with X-linked chronic granulomatous disease.
Ariga T; Sakiyama Y; Matsumoto S
Hum Genet; 1995 Jul; 96(1):6-8. PubMed ID: 7607656
[TBL] [Abstract][Full Text] [Related]
13. Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency.
Ishibashi F; Nunoi H; Endo F; Matsuda I; Kanegasaki S
Hum Genet; 2000 May; 106(5):473-81. PubMed ID: 10914676
[TBL] [Abstract][Full Text] [Related]
14. Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease.
Hui YF; Chan SY; Lau YL
Blood; 1996 Nov; 88(10):4021-8. PubMed ID: 8916969
[TBL] [Abstract][Full Text] [Related]
15. Towards routine screening of rare genetic diseases: the example of chronic granulomatous disease.
Stasia MJ
J Mol Diagn; 2010 May; 12(3):269-71. PubMed ID: 20304942
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. A novel mutation in the CYBB gene resulting in an unexpected pattern of exon skipping and chronic granulomatous disease.
Noack D; Heyworth PG; Curnutte JT; Rae J; Cross AR
Biochim Biophys Acta; 1999 Aug; 1454(3):270-4. PubMed ID: 10452961
[TBL] [Abstract][Full Text] [Related]
19. Gene therapy for X-linked chronic granulomatous disease.
Haematologica; 2000 May; 85(5):450. PubMed ID: 10800157
[No Abstract] [Full Text] [Related]
20. Identification of (CA/GT)n polymorphisms within the X-linked chronic granulomatous disease (X-CGD) gene: utility for prenatal diagnosis.
Gorlin JB
J Pediatr Hematol Oncol; 1998; 20(2):112-9. PubMed ID: 9544160
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
