-
1
-
-
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
-
2
-
-
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
-
3
-
-
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
-
4
-
-
0025320994
-
Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation
-
Hu XY, Ray PN, Murphy EG, Thompson MW, Worton RG. Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation. Am J Hum Genet 1990; 46: 682-95.
-
(1990)
Am J Hum Genet
, vol.46
, pp. 682-695
-
-
Hu, X.Y.1
Ray, P.N.2
Murphy, E.G.3
Thompson, M.W.4
Worton, R.G.5
-
6
-
-
28144440030
-
Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene
-
Traverso M, Malnati M, Minetti C, Regis S, Tedeschi S, Pedemonte M, Bruno C, Biassoni R, Zara F. Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene. Biochem Biophys Res Commun 2006; 339: 145-50.
-
(2006)
Biochem Biophys Res Commun
, vol.339
, pp. 145-150
-
-
Traverso, M.1
Malnati, M.2
Minetti, C.3
Regis, S.4
Tedeschi, S.5
Pedemonte, M.6
Bruno, C.7
Biassoni, R.8
Zara, F.9
-
7
-
-
0030016279
-
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis
-
Yau SC, Bobrow M, Mathew CG, Abbs SJ. Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet 1996; 33: 550-8.
-
(1996)
J Med Genet
, vol.33
, pp. 550-558
-
-
Yau, S.C.1
Bobrow, M.2
Mathew, C.G.3
Abbs, S.J.4
-
8
-
-
20344366588
-
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)
-
Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, Guanciali-Franchi P, Calabrese G, Uncini A, Stuppia L. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Hum Genet 2005; 117: 92-8.
-
(2005)
Hum Genet
, vol.117
, pp. 92-98
-
-
Gatta, V.1
Scarciolla, O.2
Gaspari, A.R.3
Palka, C.4
De Angelis, M.V.5
Di Muzio, A.6
Guanciali-Franchi, P.7
Calabrese, G.8
Uncini, A.9
Stuppia, L.10
-
9
-
-
33644814036
-
Deletion and duplication screening in the DMD gene using MLPA
-
Lalic T, Vossen RH, Coffa J, Schouten JP, Guc-Scekic M, Radivojevic D, Djurisic M, Breuning MH, White SJ, den Dunnen JT. Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 2005; 13: 1231-4.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 1231-1234
-
-
Lalic, T.1
Vossen, R.H.2
Coffa, J.3
Schouten, J.P.4
Guc-Scekic, M.5
Radivojevic, D.6
Djurisic, M.7
Breuning, M.H.8
White, S.J.9
den Dunnen, J.T.10
-
10
-
-
0024245082
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
-
Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 1988; 16: 11141-56.
-
(1988)
Nucleic Acids Res
, vol.16
, pp. 11141-11156
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
Nguyen, P.N.4
Caskey, C.T.5
-
11
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 1990; 86: 45-8.
-
(1990)
Hum Genet
, vol.86
, pp. 45-48
-
-
Beggs, A.H.1
Koenig, M.2
Boyce, F.M.3
Kunkel, L.M.4
-
12
-
-
3543023204
-
Relative quantification of 40 nucleic acid sequences by multiplex ligationdependent probe amplification
-
Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligationdependent probe amplification. Nucleic Acids Res 2002; 30: e57.
-
(2002)
Nucleic Acids Res
, vol.30
-
-
Schouten, J.P.1
McElgunn, C.J.2
Waaijer, R.3
Zwijnenburg, D.4
Diepvens, F.5
Pals, G.6
-
13
-
-
33746137427
-
Detecting exon deletions and duplications of the DMD gene using Multiplex Ligation-dependent Probe Amplification (MLPA)
-
Lai KK, Lo IF, Tong TM, Cheng LY, Lam ST. 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
Cheng, L.Y.4
Lam, S.T.5
-
14
-
-
34250668773
-
Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects
-
Hwa HL, Chang YY, Chen CH, Kao YS, Jong YJ, Chao MC, Ko TM. 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
Chen, C.H.3
Kao, Y.S.4
Jong, Y.J.5
Chao, M.C.6
Ko, T.M.7
-
15
-
-
44149087381
-
Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations
-
Wang X, Wang Z, Yan M, Huang S, Chen TJ, Zhong N. Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations. Behav Brain Funct 2008; 4: 20.
-
(2008)
Behav Brain Funct
, vol.4
, pp. 20
-
-
Wang, X.1
Wang, Z.2
Yan, M.3
Huang, S.4
Chen, T.J.5
Zhong, N.6
-
16
-
-
33746125276
-
A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy
-
Lo IF, Lai KK, Tong TM, Lam ST. A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy. Chin Med J (Engl) 2006; 119: 1079-87.
-
(2006)
Chin Med J (Engl)
, vol.119
, pp. 1079-1087
-
-
Lo, I.F.1
Lai, K.K.2
Tong, T.M.3
Lam, S.T.4
-
17
-
-
0025745162
-
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies
-
Beggs AH, Hoffman EP, Snyder JR, Arahata K, Specht L, Shapiro F, Angelini C, Sugita H, Kunkel LM. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 1991; 49: 54-67.
-
(1991)
Am J Hum Genet
, vol.49
, pp. 54-67
-
-
Beggs, A.H.1
Hoffman, E.P.2
Snyder, J.R.3
Arahata, K.4
Specht, L.5
Shapiro, F.6
Angelini, C.7
Sugita, H.8
Kunkel, L.M.9
-
18
-
-
80054720841
-
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up
-
Magri F, Govoni A, D'Angelo MG, Del Bo R, Ghezzi S, Sandra G, Turconi AC, Sciacco M, Ciscato P, Bordoni A, Tedeschi S, Fortunato F, Lucchini V, Bonato S, Lamperti C, Coviello D, Torrente Y, Corti S, Moggio M, Bresolin N, Comi GP. Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J Neurol 2011; 258: 1610-23.
-
(2011)
J Neurol
, vol.258
, pp. 1610-1623
-
-
Magri, F.1
Govoni, A.2
D'Angelo, M.G.3
Del Bo, R.4
Ghezzi, S.5
Sandra, G.6
Turconi, A.C.7
Sciacco, M.8
Ciscato, P.9
Bordoni, A.10
Tedeschi, S.11
Fortunato, F.12
Lucchini, V.13
Bonato, S.14
Lamperti, C.15
Coviello, D.16
Torrente, Y.17
Corti, S.18
Moggio, M.19
Bresolin, N.20
Comi, G.P.21
more..
-
19
-
-
73249137367
-
Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them
-
Wu Y, Yin G, Fu K, Wu D, Zhai Q, Du H, Huang Z, Niu Y. Gene diagnosis for nine Chinese patients with DMD/BMD by multiplex ligation-dependent probe amplification and prenatal diagnosis for one of them. J Clin Lab Anal 2009; 23: 380-6.
-
(2009)
J Clin Lab Anal
, vol.23
, pp. 380-386
-
-
Wu, Y.1
Yin, G.2
Fu, K.3
Wu, D.4
Zhai, Q.5
Du, H.6
Huang, Z.7
Niu, Y.8
-
20
-
-
0026764256
-
Dystrophinopathy in isolated cases of myopathy in females
-
Hoffman EP, Arahata K, Minetti C, Bonilla E, Rowland LP. Dystrophinopathy in isolated cases of myopathy in females. Neurology 1992; 42: 967-75.
-
(1992)
Neurology
, vol.42
, pp. 967-975
-
-
Hoffman, E.P.1
Arahata, K.2
Minetti, C.3
Bonilla, E.4
Rowland, L.P.5
-
21
-
-
78650618417
-
Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy
-
Song TJ, Lee KA, Kang SW, Cho H, Choi YC. Three cases of manifesting female carriers in patients with Duchenne muscular dystrophy. Yonsei Med J 2011; 52: 192-5.
-
(2011)
Yonsei Med J
, vol.52
, pp. 192-195
-
-
Song, T.J.1
Lee, K.A.2
Kang, S.W.3
Cho, H.4
Choi, Y.C.5
-
22
-
-
0022297997
-
Clinical investigation in Duchenne dystrophy: V. use of creatine kinase and pyruvate kinase in carrier detection
-
Griggs RC, Mendell JR, Brooke MH, Fenichel GM, Miller JP, Province M, Moxley RT 3rd, Huntzinger D, Vaughn A, Cohen M. Clinical investigation in Duchenne dystrophy: V. use of creatine kinase and pyruvate kinase in carrier detection. Muscle Nerve 1985; 8: 60-7.
-
(1985)
Muscle Nerve
, vol.8
, pp. 60-67
-
-
Griggs, R.C.1
Mendell, J.R.2
Brooke, M.H.3
Fenichel, G.M.4
Miller, J.P.5
Province, M.6
Moxley III, R.T.7
Huntzinger, D.8
Vaughn, A.9
Cohen, M.10
-
23
-
-
15444370412
-
MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls
-
Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics 2005; 6: 29-35.
-
(2005)
Neurogenetics
, vol.6
, pp. 29-35
-
-
Janssen, B.1
Hartmann, C.2
Scholz, V.3
Jauch, A.4
Zschocke, J.5
-
24
-
-
2342578875
-
MLPA and MAPH: new techniques for detection of gene deletions
-
Sellner LN, Taylor GR. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 2004; 23: 413-9.
-
(2004)
Hum Mutat
, vol.23
, pp. 413-419
-
-
Sellner, L.N.1
Taylor, G.R.2
-
25
-
-
48049098511
-
Small mutations of the DMD gene in Taiwanese families
-
Hwa HL, Chang YY, Huang CH, Chen CH, Kao YS, Jong YJ, Chao MC, Ko TM. Small mutations of the DMD gene in Taiwanese families. J Formos Med Assoc 2008; 107: 463-9.
-
(2008)
J Formos Med Assoc
, vol.107
, pp. 463-469
-
-
Hwa, H.L.1
Chang, Y.Y.2
Huang, C.H.3
Chen, C.H.4
Kao, Y.S.5
Jong, Y.J.6
Chao, M.C.7
Ko, T.M.8
-
26
-
-
58149284049
-
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
-
Bovolenta M, Neri M, Fini S, Fabris M, Trabanelli C, Venturoli A, Martoni E, Bassi E, Spitali P, Brioschi S, Falzarano MS, Rimessi P, Ciccone R, Ashton E, McCauley J, Yau S, Abbs S, Muntoni F, Merlini L, Gualandi F, Ferlini A. A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies. BMC Genomics 2008; 9: 572.
-
(2008)
BMC Genomics
, vol.9
, pp. 572
-
-
Bovolenta, M.1
Neri, M.2
Fini, S.3
Fabris, M.4
Trabanelli, C.5
Venturoli, A.6
Martoni, E.7
Bassi, E.8
Spitali, P.9
Brioschi, S.10
Falzarano, M.S.11
Rimessi, P.12
Ciccone, R.13
Ashton, E.14
McCauley, J.15
Yau, S.16
Abbs, S.17
Muntoni, F.18
Merlini, L.19
Gualandi, F.20
Ferlini, A.21
more..
-
27
-
-
82055196671
-
Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies
-
Laing NG, Davis MR, Bayley K, Fletcher S, Wilton SD. Molecular diagnosis of duchenne muscular dystrophy: past, present and future in relation to implementing therapies. Clin Biochem Rev 2011; 32: 129-34.
-
(2011)
Clin Biochem Rev
, vol.32
, pp. 129-134
-
-
Laing, N.G.1
Davis, M.R.2
Bayley, K.3
Fletcher, S.4
Wilton, S.D.5
-
28
-
-
51549110163
-
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
-
del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat 2008; 29: 1100-7.
-
(2008)
Hum Mutat
, vol.29
, pp. 1100-1107
-
-
del Gaudio, D.1
Yang, Y.2
Boggs, B.A.3
Schmitt, E.S.4
Lee, J.A.5
Sahoo, T.6
Pham, H.T.7
Wiszniewska, J.8
Chinault, A.C.9
Beaudet, A.L.10
Eng, C.M.11
-
29
-
-
51549094171
-
Microarray-based mutation detection in the dystrophin gene
-
Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME. Microarray-based mutation detection in the dystrophin gene. Hum Mutat 2008; 29: 1091-9.
-
(2008)
Hum Mutat
, vol.29
, pp. 1091-1099
-
-
Hegde, M.R.1
Chin, E.L.2
Mulle, J.G.3
Okou, D.T.4
Warren, S.T.5
Zwick, M.E.6
-
30
-
-
38149091561
-
Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients
-
Zeng F, Ren ZR, Huang SZ, Kalf M, Mommersteeg M, Smit M, White S, Jin CL, Xu M, Zhou DW, Yan JB, Chen MJ, van Beuningen R, Huang SZ, den Dunnen J, Zeng YT, Wu Y. Array-MLPA: comprehensive detection of deletions and duplications and its application to DMD patients. Hum Mutat 2008; 29: 190-7.
-
(2008)
Hum Mutat
, vol.29
, pp. 190-197
-
-
Zeng, F.1
Ren, Z.R.2
Huang, S.Z.3
Kalf, M.4
Mommersteeg, M.5
Smit, M.6
White, S.7
Jin, C.L.8
Xu, M.9
Zhou, D.W.10
Yan, J.B.11
Chen, M.J.12
van Beuningen, R.13
Huang, S.Z.14
den Dunnen, J.15
Zeng, Y.T.16
Wu, Y.17
|