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Items: 1 to 20 of 101

1.

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations.

Roberts RG, Gardner RJ, Bobrow M.

Hum Mutat. 1994;4(1):1-11. Review.

PMID:
7951253
2.
3.
4.

[Genotypic diagnosis of Duchenne and Becker muscular dystrophies].

Tuffery-Giraud S, Chambert S, Demaille J, Claustres M.

Ann Biol Clin (Paris). 1999 Jul-Aug;57(4):417-26. Review. French.

5.

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
6.

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.

7.

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
8.

Mutation analysis of the dystrophin gene in Southern French DMD or BMD families: from Southern blot to protein truncation test.

Tuffery S, Chambert S, Bareil C, Sarda P, Coubes C, Echenne B, Demaille J, Claustres M.

Hum Genet. 1998 Mar;102(3):334-42.

PMID:
9544849
9.

Spectrum of small mutations in the dystrophin coding region.

Prior TW, Bartolo C, Pearl DK, Papp AC, Snyder PJ, Sedra MS, Burghes AH, Mendell JR.

Am J Hum Genet. 1995 Jul;57(1):22-33.

10.

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
11.

[Genetic diagnosis of Duchenne/Becker muscular dystrophy; clinical application and problems].

Takeshima Y.

No To Hattatsu. 1998 Mar;30(2):141-7. Japanese.

PMID:
9545779
12.

Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations.

Pillers DA, Fitzgerald KM, Duncan NM, Rash SM, White RA, Dwinnell SJ, Powell BR, Schnur RE, Ray PN, Cibis GW, Weleber RG.

Hum Genet. 1999 Jul-Aug;105(1-2):2-9.

PMID:
10480348
13.

A missense mutation in the dystrophin gene in a Duchenne muscular dystrophy patient.

Prior TW, Papp AC, Snyder PJ, Burghes AH, Bartolo C, Sedra MS, Western LM, Mendell JR.

Nat Genet. 1993 Aug;4(4):357-60.

PMID:
8401582
14.

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.

PMID:
10533061
15.

Prediction of dystrophin phenotype by DNA analysis in Duchenne/Becker muscular dystrophy.

Specht LA, Beggs AH, Korf B, Kunkel LM, Shapiro F.

Pediatr Neurol. 1992 Nov-Dec;8(6):432-6.

PMID:
1476571
16.
17.

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
18.
19.

Characterization of translational frame exception patients in Duchenne/Becker muscular dystrophy.

Winnard AV, Klein CJ, Coovert DD, Prior T, Papp A, Snyder P, Bulman DE, Ray PN, McAndrew P, King W, et al.

Hum Mol Genet. 1993 Jun;2(6):737-44. Erratum in: Hum Mol Genet 1993 Aug;2(8):1347.

PMID:
8353493

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