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Results: 1 to 20 of 134

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. doi: 10.1016/j.nmd.2009.08.011. Epub 2009 Sep 26.

PMID:
19783145
[PubMed - indexed for MEDLINE]
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.

PMID:
17041906
[PubMed - indexed for MEDLINE]
3.

Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells.

van Deutekom JC, Bremmer-Bout M, Janson AA, Ginjaar IB, Baas F, den Dunnen JT, van Ommen GJ.

Hum Mol Genet. 2001 Jul 15;10(15):1547-54.

PMID:
11468272
[PubMed - indexed for MEDLINE]
Free Article
4.

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.

PMID:
17041910
[PubMed - indexed for MEDLINE]
5.

Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation.

Fajkusová L, Lukás Z, Tvrdíková M, Kuhrová V, Hájek J, Fajkus J.

Neuromuscul Disord. 2001 Mar;11(2):133-8.

PMID:
11257468
[PubMed - indexed for MEDLINE]
6.

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.

PMID:
18059005
[PubMed - indexed for MEDLINE]
7.

Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection.

Hamed SA, Hoffman EP.

Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141B(1):44-50.

PMID:
16331671
[PubMed - indexed for MEDLINE]
8.

Splicing mutations in DMD/BMD detected by RT-PCR/PTT: detection of a 19AA insertion in the cysteine rich domain of dystrophin compatible with BMD.

Roest PA, Bout M, van der Tuijn AC, Ginjaar IB, Bakker E, Hogervorst FB, van Ommen GJ, den Dunnen JT.

J Med Genet. 1996 Nov;33(11):935-9.

PMID:
8950674
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene.

Béroud C, Carrié A, Beldjord C, Deburgrave N, Llense S, Carelle N, Peccate C, Cuisset JM, Pandit F, Carré-Pigeon F, Mayer M, Bellance R, Récan D, Chelly J, Kaplan JC, Leturcq F.

Neuromuscul Disord. 2004 Jan;14(1):10-8.

PMID:
14659407
[PubMed - indexed for MEDLINE]
10.

An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype.

Cagliani R, Sironi M, Ciafaloni E, Bardoni A, Fortunato F, Prelle A, Serafini M, Bresolin N, Comi GP.

Hum Genet. 2004 Jun;115(1):13-8. Epub 2004 Apr 30.

PMID:
15118904
[PubMed - indexed for MEDLINE]
11.

Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients.

Lenk U, Hanke R, Thiele H, Speer A.

Hum Mol Genet. 1993 Nov;2(11):1877-81.

PMID:
8281150
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
7581396
[PubMed - indexed for MEDLINE]
13.

Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense.

Aartsma-Rus A, Janson AA, Kaman WE, Bremmer-Bout M, van Ommen GJ, den Dunnen JT, van Deutekom JC.

Am J Hum Genet. 2004 Jan;74(1):83-92. Epub 2003 Dec 16.

PMID:
14681829
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies.

Stockley TL, Akber S, Bulgin N, Ray PN.

Genet Test. 2006 Winter;10(4):229-43.

PMID:
17253928
[PubMed - indexed for MEDLINE]
15.

Detection of a nonsense mutation in the dystrophin gene by multiple SSCP.

Nigro V, Politano L, Nigro G, Romano SC, Molinari AM, Puca GA.

Hum Mol Genet. 1992 Oct;1(7):517-20.

PMID:
1307253
[PubMed - indexed for MEDLINE]
16.

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. doi: 10.1038/jhg.2008.8. Epub 2009 Jan 9.

PMID:
19158820
[PubMed - indexed for MEDLINE]
17.

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.

PMID:
14695533
[PubMed - indexed for MEDLINE]
18.

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. doi: 10.1016/j.nmd.2008.06.369. Epub 2008 Jul 23.

PMID:
18653336
[PubMed - indexed for MEDLINE]
19.

Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort.

Dent KM, Dunn DM, von Niederhausern AC, Aoyagi AT, Kerr L, Bromberg MB, Hart KJ, Tuohy T, White S, den Dunnen JT, Weiss RB, Flanigan KM.

Am J Med Genet A. 2005 Apr 30;134(3):295-8.

PMID:
15723292
[PubMed - indexed for MEDLINE]
20.

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 Oct-Nov;7(7):765-70.

PMID:
10573008
[PubMed - indexed for MEDLINE]
Free Article

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