-
1
-
-
0025998134
-
Population frequencies of inherited neuromuscular diseases: A world survey
-
Emery AE. Population frequencies of inherited neuromuscular diseases: a world survey. Neuromuscul Disord 1991;1: 19-29.
-
(1991)
Neuromuscul Disord
, vol.1
, pp. 19-29
-
-
Emery, A.E.1
-
2
-
-
0024370782
-
Dystrophin. The gene and its product
-
Mandel JL. Dystrophin. The gene and its product. Nature 1989;339:584-6.
-
(1989)
Nature
, vol.339
, pp. 584-586
-
-
Mandel, J.L.1
-
3
-
-
0023614271
-
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
-
Koenig M, Hoffman EP, Berteison CJ, et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 1987;50:509-17.
-
(1987)
Cell
, vol.50
, pp. 509-517
-
-
Koenig, M.1
Hoffman, E.P.2
Berteison, C.J.3
-
4
-
-
0344420060
-
Dystrophin and mutations: One gene, several proteins, multiple phenotypes
-
Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol 2003; 2:731-40.
-
(2003)
Lancet Neurol
, vol.2
, pp. 731-740
-
-
Muntoni, F.1
Torelli, S.2
Ferlini, A.3
-
5
-
-
33746766278
-
Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule
-
Aartsma-Rus A, Van Deutekom JCT, Fokkema IF, et al. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve 2006;34:135-44.
-
(2006)
Muscle Nerve
, vol.34
, pp. 135-144
-
-
Aartsma-Rus, A.1
Van Deutekom, J.C.T.2
Fokkema, I.F.3
-
6
-
-
85031383334
-
-
den Dunnen JT. Leiden Muscular Dystrophy Pages, Center for Human and Clinical Genetics, Leiden University Medical Center. Dystrophin database. Available at: http://www.dmd.nl. [Date accessed: June 7, 2007]
-
den Dunnen JT. Leiden Muscular Dystrophy Pages, Center for Human and Clinical Genetics, Leiden University Medical Center. Dystrophin database. Available at: http://www.dmd.nl. [Date accessed: June 7, 2007]
-
-
-
-
7
-
-
11444268506
-
Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification methods
-
Schwartz M, Morten D. Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification methods. Genetic Testing 2004;8:361-7.
-
(2004)
Genetic Testing
, vol.8
, pp. 361-367
-
-
Schwartz, M.1
Morten, D.2
-
8
-
-
33746137427
-
Detecting exon deletions and duplications of the DMD gene using multiplex ligation-dependent probe amplification (MLPA)
-
Lai KK, Lo IF, Tong TM, et al. Detecting exon deletions and duplications of the DMD gene using multiplex ligation-dependent probe amplification (MLPA). Clin Biochem 2006;39:367-72.
-
(2006)
Clin Biochem
, vol.39
, pp. 367-372
-
-
Lai, K.K.1
Lo, I.F.2
Tong, T.M.3
-
9
-
-
34250668773
-
Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects
-
Hwa HL, Chang YY, Huang CH, et al. Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects. J Formos Med Assoc 2007;106: 339-46.
-
(2007)
J Formos Med Assoc
, vol.106
, pp. 339-346
-
-
Hwa, H.L.1
Chang, Y.Y.2
Huang, C.H.3
-
10
-
-
23844539257
-
Experience and strategy for the molecular testing of Duchenne muscular dystrophy
-
Prior TW, Bridgeman SJ. Experience and strategy for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn 2005;7:317-26.
-
(2005)
J Mol Diagn
, vol.7
, pp. 317-326
-
-
Prior, T.W.1
Bridgeman, S.J.2
-
11
-
-
85031376891
-
-
HUGO Mutation Database Initiative. The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff. Available at: http://www.hgmd.cf.ac.uk/ac/index.php [Date accessed: June 22, 2007]
-
HUGO Mutation Database Initiative. The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff. Available at: http://www.hgmd.cf.ac.uk/ac/index.php [Date accessed: June 22, 2007]
-
-
-
-
12
-
-
9144231281
-
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients
-
Hofstra RM, Mulder IM, Vossen R, et al. DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients. Hum Mutat 2004;23:57-66.
-
(2004)
Hum Mutat
, vol.23
, pp. 57-66
-
-
Hofstra, R.M.1
Mulder, I.M.2
Vossen, R.3
-
13
-
-
0030016360
-
A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave
-
Lenk U, Oexle K, Voit T, et al. A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave. Hum Mol Genet 1996; 5:973-5.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 973-975
-
-
Lenk, U.1
Oexle, K.2
Voit, T.3
-
14
-
-
0024293567
-
The chicken dystrophin cDNA: Striking conservation of the C-terminal coding and 3′ untranslated regions between man and chicken
-
Le Maire C, Heilig R, Mandel JL. The chicken dystrophin cDNA: striking conservation of the C-terminal coding and 3′ untranslated regions between man and chicken. EMBO J 1988;7:4157-62.
-
(1988)
EMBO J
, vol.7
, pp. 4157-4162
-
-
Le Maire, C.1
Heilig, R.2
Mandel, J.L.3
-
15
-
-
13444257350
-
Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide
-
Buzin CH, Feng J, Yan J, et al. Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide. Hum Mutat 2005;25:177-88.
-
(2005)
Hum Mutat
, vol.25
, pp. 177-188
-
-
Buzin, C.H.1
Feng, J.2
Yan, J.3
-
16
-
-
0035964228
-
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations
-
Mendell JR, Buzin CH, Feng J, et al. Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology 2001;57:645-50.
-
(2001)
Neurology
, vol.57
, pp. 645-650
-
-
Mendell, J.R.1
Buzin, C.H.2
Feng, J.3
-
17
-
-
33846932068
-
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, et al. 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. Hum Mutat 2007;28:183-95.
-
(2007)
Hum Mutat
, vol.28
, pp. 183-195
-
-
Deburgrave, N.1
Daoud, F.2
Llense, S.3
-
18
-
-
0029089582
-
Dystrophin-associated proteins in muscular dystrophy
-
Ozawa E, Yoshida M, Suzuki A, et al. Dystrophin-associated proteins in muscular dystrophy. Hum Mol Genet 1995;4: 1711-6.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1711-1716
-
-
Ozawa, E.1
Yoshida, M.2
Suzuki, A.3
-
19
-
-
0000586458
-
The nature and mechanism of human gene mutation
-
Scriver CR, Beaudet AL, Sly WS, et al, eds, 7th edition. New York: McGraw-Hill
-
Cooper DN, Kwrawczak M, Antonarakis SE. The nature and mechanism of human gene mutation. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease, Volume 1, 7th edition. New York: McGraw-Hill, 1995:259-92.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, vol.1
, pp. 259-292
-
-
Cooper, D.N.1
Kwrawczak, M.2
Antonarakis, S.E.3
-
20
-
-
0028985719
-
Mammalian alpha 1- and beta 1-syntrophin bind to the alternative splice-prone region of the dystrophin COOH-terminus
-
Suzuki A, Yoshida M, Ozawa E. Mammalian alpha 1- and beta 1-syntrophin bind to the alternative splice-prone region of the dystrophin COOH-terminus. J Cell Biol 1995;128: 373-81.
-
(1995)
J Cell Biol
, vol.128
, pp. 373-381
-
-
Suzuki, A.1
Yoshida, M.2
Ozawa, E.3
-
21
-
-
0032756947
-
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, et al. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. Hum Mutat 1999;14:359-68.
-
(1999)
Hum Mutat
, vol.14
, pp. 359-368
-
-
Tuffery-Giraud, S.1
Chambert, S.2
Demaille, J.3
-
22
-
-
0026794668
-
The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences
-
Krawczak M, Reiss J, Cooper DN. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 1992;90:41-54.
-
(1992)
Hum Genet
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.N.3
-
23
-
-
0029949594
-
Cis-acting elements distinct from the 5′ splice site promote U1-independent pre-mRNA splicing
-
Crispino JD, Mermoud JE, Lamond AI, et al. Cis-acting elements distinct from the 5′ splice site promote U1-independent pre-mRNA splicing. RNA 1996;2:664-73.
-
(1996)
RNA
, vol.2
, pp. 664-673
-
-
Crispino, J.D.1
Mermoud, J.E.2
Lamond, A.I.3
-
24
-
-
85031390836
-
-
Basic Local Alignment Search Tool. Available at: http://www.ncbi.nlm.nih.gov/BLAST/ [Date accessed: May 30, 2007]
-
Basic Local Alignment Search Tool. Available at: http://www.ncbi.nlm.nih.gov/BLAST/ [Date accessed: May 30, 2007]
-
-
-
|