169 related articles for article (PubMed ID: 19783145)
1. Point mutations in Czech DMD/BMD patients and their phenotypic outcome.
Sedlácková J; Vondrácek P; Hermanová M; Zámecník J; Hrubá Z; Haberlová J; Kraus J; Maríková T; Hedvicáková P; Vohánka S; Fajkusová L
Neuromuscul Disord; 2009 Nov; 19(11):749-53. PubMed ID: 19783145
[TBL] [Abstract][Full Text] [Related]
2. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene.
Deburgrave N; Daoud F; Llense S; Barbot JC; Récan D; Peccate C; Burghes AH; Béroud C; Garcia L; Kaplan JC; Chelly J; Leturcq F
Hum Mutat; 2007 Feb; 28(2):183-95. PubMed ID: 17041906
[TBL] [Abstract][Full Text] [Related]
3. Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.
Béroud C; Tuffery-Giraud S; Matsuo M; Hamroun D; Humbertclaude V; Monnier N; Moizard MP; Voelckel MA; Calemard LM; Boisseau P; Blayau M; Philippe C; Cossée M; Pagès M; Rivier F; Danos O; Garcia L; Claustres M
Hum Mutat; 2007 Feb; 28(2):196-202. PubMed ID: 17041910
[TBL] [Abstract][Full Text] [Related]
4. DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy.
Gurvich OL; Tuohy TM; Howard MT; Finkel RS; Medne L; Anderson CB; Weiss RB; Wilton SD; Flanigan KM
Ann Neurol; 2008 Jan; 63(1):81-9. PubMed ID: 18059005
[TBL] [Abstract][Full Text] [Related]
5. Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
Tuffery S; Lenk U; Roberts RG; Coubes C; Demaille J; Claustres M
Hum Mutat; 1995; 6(2):126-35. PubMed ID: 7581396
[TBL] [Abstract][Full Text] [Related]
6. Characterization of deletion breakpoints in patients with dystrophinopathy carrying a deletion of exons 45-55 of the Duchenne muscular dystrophy (DMD) gene.
Miyazaki D; Yoshida K; Fukushima K; Nakamura A; Suzuki K; Sato T; Takeda S; Ikeda S
J Hum Genet; 2009 Feb; 54(2):127-30. PubMed ID: 19158820
[TBL] [Abstract][Full Text] [Related]
7. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients.
Hofstra RM; Mulder IM; Vossen R; de Koning-Gans PA; Kraak M; Ginjaar IB; van der Hout AH; Bakker E; Buys CH; van Ommen GJ; van Essen AJ; den Dunnen JT
Hum Mutat; 2004 Jan; 23(1):57-66. PubMed ID: 14695533
[TBL] [Abstract][Full Text] [Related]
8. MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients.
Todorova A; Todorov T; Georgieva B; Lukova M; Guergueltcheva V; Kremensky I; Mitev V
Neuromuscul Disord; 2008 Aug; 18(8):667-70. PubMed ID: 18653336
[TBL] [Abstract][Full Text] [Related]
9. Identification of point mutations in Turkish DMD/BMD families using multiplex-single stranded conformation analysis (SSCA).
Eraslan S; Kayserili H; Apak MY; Kirdar B
Eur J Hum Genet; 1999; 7(7):765-70. PubMed ID: 10573008
[TBL] [Abstract][Full Text] [Related]
10. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects.
Tuffery-Giraud S; Chambert S; Demaille J; Claustres M
Hum Mutat; 1999; 14(5):359-68. PubMed ID: 10533061
[TBL] [Abstract][Full Text] [Related]
11. [Identification of disease-causing point mutations in DMD patients' dystrophin gene without large deletions/duplications].
Shen BC; Zhang C; Chen SL; Sun XF; Li SY; Yao XL; Wang SH; Lu XL
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Aug; 23(4):392-6. PubMed ID: 16883524
[TBL] [Abstract][Full Text] [Related]
12. Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase.
Tuffery-Giraud S; Béroud C; Leturcq F; Yaou RB; Hamroun D; Michel-Calemard L; Moizard MP; Bernard R; Cossée M; Boisseau P; Blayau M; Creveaux I; Guiochon-Mantel A; de Martinville B; Philippe C; Monnier N; Bieth E; Khau Van Kien P; Desmet FO; Humbertclaude V; Kaplan JC; Chelly J; Claustres M
Hum Mutat; 2009 Jun; 30(6):934-45. PubMed ID: 19367636
[TBL] [Abstract][Full Text] [Related]
13. Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients.
Chaturvedi LS; Mukherjee M; Srivastava S; Mittal RD; Mittal B
Exp Mol Med; 2001 Dec; 33(4):251-6. PubMed ID: 11795488
[TBL] [Abstract][Full Text] [Related]
14. Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.
Tuffery-Giraud S; Saquet C; Chambert S; Claustres M
Hum Mutat; 2003 Jun; 21(6):608-14. PubMed ID: 12754707
[TBL] [Abstract][Full Text] [Related]
15. Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene.
Baskin B; Banwell B; Khater RA; Hawkins C; Ray PN
Neuromuscul Disord; 2009 Mar; 19(3):189-92. PubMed ID: 19230662
[TBL] [Abstract][Full Text] [Related]
16. [Detection of genomic duplications and deletions of the DMD gene in affected males and female carriers by using mutiplex ligation-dependent probe amplification].
Shen BC; Zhang C; Sun XF; Zhang HM; Li SY
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):460-3. PubMed ID: 17680544
[TBL] [Abstract][Full Text] [Related]
17. A G-to-A transition at the fifth position of intron-32 of the dystrophin gene inactivates a splice-donor site both in vivo and in vitro.
Thi Tran HT; Takeshima Y; Surono A; Yagi M; Wada H; Matsuo M
Mol Genet Metab; 2005 Jul; 85(3):213-9. PubMed ID: 15979033
[TBL] [Abstract][Full Text] [Related]
18. Towards a therapeutic inhibition of dystrophin exon 23 splicing in mdx mouse muscle induced by antisense oligoribonucleotides (splicomers): target sequence optimisation using oligonucleotide arrays.
Graham IR; Hill VJ; Manoharan M; Inamati GB; Dickson G
J Gene Med; 2004 Oct; 6(10):1149-58. PubMed ID: 15386737
[TBL] [Abstract][Full Text] [Related]
19. [From gene to disease; the dystrophin gene involved in Duchenne and Becker muscular dystrophy].
den Dunnen JT; de Visser M; Bakker E
Ned Tijdschr Geneeskd; 2002 Feb; 146(8):364-7. PubMed ID: 11887623
[TBL] [Abstract][Full Text] [Related]
20. [Combining approach with multiplex PCR and MLPA to detect deletion and duplication in DMD patients, carriers, and prenatal diagnosis].
Li H; Ding J; Wang W; Chen Y; Lu W; Shao H; Wu BL
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun; 26(3):318-22. PubMed ID: 19504448
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]