198 related articles for article (PubMed ID: 12186364)
1. A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita.
Hiramatsu H; Fujii T; Kitoh T; Sawada M; Osaka M; Koami K; Irino T; Miyajima T; Ito M; Sugiyama T; Okuno T
Pediatr Hematol Oncol; 2002 Sep; 19(6):413-9. PubMed ID: 12186364
[TBL] [Abstract][Full Text] [Related]
2. Missense mutation in a patient with X-linked dyskeratosis congenita.
Kraemer DM; Goebeler M
Haematologica; 2003 Apr; 88(4):ECR11. PubMed ID: 12681984
[TBL] [Abstract][Full Text] [Related]
3. Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita.
Kanegane H; Kasahara Y; Okamura J; Hongo T; Tanaka R; Nomura K; Kojima S; Miyawaki T
Br J Haematol; 2005 May; 129(3):432-4. PubMed ID: 15842668
[TBL] [Abstract][Full Text] [Related]
4. Identification of a novel mutation in DKC1 in dyskeratosis congenita.
Kurnikova M; Shagina I; Khachatryan L; Schagina O; Maschan M; Shagin D
Pediatr Blood Cancer; 2009 Jan; 52(1):135-7. PubMed ID: 18802941
[TBL] [Abstract][Full Text] [Related]
5. One novel and two recurrent missense DKC1 mutations in patients with dyskeratosis congenita (DKC).
Heiss NS; Mégarbané A; Klauck SM; Kreuz FR; Makhoul E; Majewski F; Poustka A
Genet Couns; 2001; 12(2):129-36. PubMed ID: 11491307
[TBL] [Abstract][Full Text] [Related]
6. Mapping and characterization of the X-linked dyskeratosis congenita (DKC) gene.
Hassock S; Vetrie D; Giannelli F
Genomics; 1999 Jan; 55(1):21-7. PubMed ID: 9888995
[TBL] [Abstract][Full Text] [Related]
7. Targeted disruption of Dkc1, the gene mutated in X-linked dyskeratosis congenita, causes embryonic lethality in mice.
He J; Navarrete S; Jasinski M; Vulliamy T; Dokal I; Bessler M; Mason PJ
Oncogene; 2002 Oct; 21(50):7740-4. PubMed ID: 12400016
[TBL] [Abstract][Full Text] [Related]
8. Recurrent A353V mutation in a Thai family with X-linked dyskeratosis congenita.
Viprakasit V; Tanphaichitr VS
Haematologica; 2001 Aug; 86(8):871-2. PubMed ID: 11522545
[No Abstract] [Full Text] [Related]
9. Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1.
Heiss NS; Bächner D; Salowsky R; Kolb A; Kioschis P; Poustka A
Genomics; 2000 Jul; 67(2):153-63. PubMed ID: 10903840
[TBL] [Abstract][Full Text] [Related]
10. Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita.
Rostamiani K; Klauck SM; Heiss N; Poustka A; Khaleghi M; Rosales R; Metzenberg AB
Blood Cells Mol Dis; 2010; 44(2):88. PubMed ID: 19879169
[No Abstract] [Full Text] [Related]
11. Dyskeratosis congenita--two siblings with a new missense mutation in the DKC1 gene.
Coelho JD; Lestre S; Kay T; Lopes MJ; Fiadeiro T; Apetato M
Pediatr Dermatol; 2011; 28(4):464-6. PubMed ID: 21736606
[TBL] [Abstract][Full Text] [Related]
12. DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita.
Lin JH; Lee JY; Tsao CJ; Chao SC
Kaohsiung J Med Sci; 2002 Nov; 18(11):573-7. PubMed ID: 12513020
[TBL] [Abstract][Full Text] [Related]
13. Severity of X-linked dyskeratosis congenita (DKCX) cellular defects is not directly related to dyskerin (DKC1) activity in ribosomal RNA biogenesis or mRNA translation.
Thumati NR; Zeng XL; Au HH; Jang CJ; Jan E; Wong JM
Hum Mutat; 2013 Dec; 34(12):1698-707. PubMed ID: 24115260
[TBL] [Abstract][Full Text] [Related]
14. [Genetic analysis of a patient with dyskeratosis congenita].
Yoshimoto T; Yanabe Y; Mizukami T; Ishibashi F; Adachi N; Takaki K; Nunoi H
Rinsho Ketsueki; 2000 Jun; 41(6):524-9. PubMed ID: 10921354
[TBL] [Abstract][Full Text] [Related]
15. Naevus anaemicus-like hypopigmented macules in dyskeratosis congenita.
Lee YP; Chao SC; Lee JY
Australas J Dermatol; 2011 May; 52(2):142-5. PubMed ID: 21605101
[TBL] [Abstract][Full Text] [Related]
16. Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita.
Vulliamy TJ; Knight SW; Mason PJ; Dokal I
Blood Cells Mol Dis; 2001; 27(2):353-7. PubMed ID: 11259155
[TBL] [Abstract][Full Text] [Related]
17. Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.
Marrone A; Dokal I
Expert Rev Mol Med; 2004 Dec; 6(26):1-23. PubMed ID: 15613268
[TBL] [Abstract][Full Text] [Related]
18. Dyskeratosis congenita.
Handley TP; McCaul JA; Ogden GR
Oral Oncol; 2006 Apr; 42(4):331-6. PubMed ID: 16140563
[TBL] [Abstract][Full Text] [Related]
19. X-linked dyskeratosis congenita in Malaysia.
Hamidah A; Rashid RA; Jamal R; Zhao M; Kanegane H
Pediatr Blood Cancer; 2008 Feb; 50(2):432. PubMed ID: 17417794
[No Abstract] [Full Text] [Related]
20. A rare X-linked inherited mucocutaneous syndrome in two siblings.
Chong LA; Ariffin H
Med J Malaysia; 2009 Dec; 64(4):327-9. PubMed ID: 20954562
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]