-
1
-
-
0025774523
-
A convenient multiplex PCR system for the detection of dystrophin gene deletions - A comparative analysis with cDNA hybridization shows mistyping by both methods
-
Abbs S, Yau SC, Clark S, Mathew CG, Bobrow M (1991): A convenient multiplex PCR system for the detection of dystrophin gene deletions - A comparative analysis with cDNA hybridization shows mistyping by both methods. J Med Genet 28:304-311.
-
(1991)
J Med Genet
, vol.28
, pp. 304-311
-
-
Abbs, S.1
Yau, S.C.2
Clark, S.3
Mathew, C.G.4
Bobrow, M.5
-
2
-
-
0000500197
-
A study of contractures in muscular dystrophy
-
Archibald KC, Vignos PJ (1959): A study of contractures in muscular dystrophy. Arch Phys Med Rehabil 40:150-157.
-
(1959)
Arch Phys Med Rehabil
, vol.40
, pp. 150-157
-
-
Archibald, K.C.1
Vignos, P.J.2
-
3
-
-
0027936884
-
Duchenne and Becker muscular dystrophy prevalence in South Africa and molecular findings in 128 persons affected
-
Ballo R, Viljoen D, Beighton P (1994): Duchenne and Becker muscular dystrophy prevalence in South Africa and molecular findings in 128 persons affected. S Afr Med J 84:494-497.
-
(1994)
S Afr Med J
, vol.84
, pp. 494-497
-
-
Ballo, R.1
Viljoen, D.2
Beighton, P.3
-
4
-
-
0027160266
-
Dystrophin gene analysis and prenatal diagnosis of Duchenne muscular dystrophy in Russia
-
Baranov VS, Gorbunova VN, Malysheva OV, Artemyeva OV, Kascheeva TK, Evgrafov OV, Polyakov AV, Lebedev VM, Kuznetzova TV, Shlykova SN, Mikhailov AV, Vakharlovsky VG (1993): Dystrophin gene analysis and prenatal diagnosis of Duchenne muscular dystrophy in Russia. Prenat Diagn 13:323-333.
-
(1993)
Prenat Diagn
, vol.13
, pp. 323-333
-
-
Baranov, V.S.1
Gorbunova, V.N.2
Malysheva, O.V.3
Artemyeva, O.V.4
Kascheeva, T.K.5
Evgrafov, O.V.6
Polyakov, A.V.7
Lebedev, V.M.8
Kuznetzova, T.V.9
Shlykova, S.N.10
Mikhailov, A.V.11
Vakharlovsky, V.G.12
-
5
-
-
0024580404
-
Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies
-
Baumbach LL, Chamberlain JS, Ward PA, Farwell NJ, Caskey CT (1989): Molecular and clinical correlations of deletions leading to Duchenne and Becker muscular dystrophies. Neurology 39: 465-474.
-
(1989)
Neurology
, vol.39
, pp. 465-474
-
-
Baumbach, L.L.1
Chamberlain, J.S.2
Ward, P.A.3
Farwell, N.J.4
Caskey, C.T.5
-
6
-
-
0027289091
-
Genomic organization of exons 22 to 25 of the dystrophin gene
-
Bebchuk KG, Bulman DE, D'Souza VN, Worton RG, Ray PN (1993): Genomic organization of exons 22 to 25 of the dystrophin gene. Hum Mol Genet 2:593-594.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 593-594
-
-
Bebchuk, K.G.1
Bulman, D.E.2
D'Souza, V.N.3
Worton, R.G.4
Ray, P.N.5
-
7
-
-
0025244924
-
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
-
Beggs AH, Koenig M, Boyce FM, Kunkel LM (1990): Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet 86:45-48.
-
(1990)
Hum Genet
, vol.86
, pp. 45-48
-
-
Beggs, A.H.1
Koenig, M.2
Boyce, F.M.3
Kunkel, L.M.4
-
8
-
-
0024245082
-
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
-
Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT (1988): Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res 16: 11141-11156.
-
(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
-
9
-
-
0002503692
-
Multiplex PCR for the diagnosis of Duchenne muscular dystrophy
-
Innis MA, Gelfand DH, Sninsky JJ, White T (eds): New York: Academic Press
-
Chamberlain JS, Gibbs RA, Ranier JE, Caskey CT (1990): Multiplex PCR for the diagnosis of Duchenne muscular dystrophy. In Innis MA, Gelfand DH, Sninsky JJ, White T (eds): "PCR Protocols: A Guide to Methods and Applications." New York: Academic Press, pp 272-281.
-
(1990)
PCR Protocols: A Guide to Methods and Applications
, pp. 272-281
-
-
Chamberlain, J.S.1
Gibbs, R.A.2
Ranier, J.E.3
Caskey, C.T.4
-
10
-
-
0026720845
-
Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction - A multicenter study
-
Chamberlain JS, Chamberlain JR, Fenwick RG, Ward PA, Caskey CT, Dimnik LS, Bech-Hansen NT, Hoar DI, Tantravahi U, Richards S, Covone AE, Romeo G, Abbs S, Bentley DR, Bobrow M, Rysiecki G, Ray PN, Boileau C, Junien C, Boehm C, Venne VL, Fujimura FK, Spiga I, Ferrari M, Tedeschi S, Bakker E, Kneppers LJ, van Ommen GJB, Jain K, Spector E, Crandall B, Kiuru A, Savontaus ML (1992): Diagnosis of Duchenne and Becker muscular dystrophies by polymerase chain reaction - A multicenter study. JAMA 267: 2609-2615.
-
(1992)
JAMA
, vol.267
, pp. 2609-2615
-
-
Chamberlain, J.S.1
Chamberlain, J.R.2
Fenwick, R.G.3
Ward, P.A.4
Caskey, C.T.5
Dimnik, L.S.6
Bech-Hansen, N.T.7
Hoar, D.I.8
Tantravahi, U.9
Richards, S.10
Covone, A.E.11
Romeo, G.12
Abbs, S.13
Bentley, D.R.14
Bobrow, M.15
Rysiecki, G.16
Ray, P.N.17
Boileau, C.18
Junien, C.19
Boehm, C.20
Venne, V.L.21
Fujimura, F.K.22
Spiga, I.23
Ferrari, M.24
Tedeschi, S.25
Bakker, E.26
Kneppers, L.J.27
Van Ommen, G.J.B.28
Jain, K.29
Spector, E.30
Crandall, B.31
Kiuru, A.32
Savontaus, M.L.33
more..
-
11
-
-
0026698304
-
Screening Duchenne and Becker muscular dystrophy patients for deletions in 30 exons of the dystrophin gene by three multiplex PCRs
-
Covone AE, Caroli F, Romeo G (1992): Screening Duchenne and Becker muscular dystrophy patients for deletions in 30 exons of the dystrophin gene by three multiplex PCRs. Am J Hum Genet 51:675-677.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 675-677
-
-
Covone, A.E.1
Caroli, F.2
Romeo, G.3
-
12
-
-
0023745057
-
Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: Location of breakpoints on Hind III ad Bgl II exon-containing fragment maps, meiotic and mitotic origin of the mutations
-
Darras BT, Blattner P, Harper JF, Spiro AJ, Alter S, Francke U (1988): Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: Location of breakpoints on Hind III ad Bgl II exon-containing fragment maps, meiotic and mitotic origin of the mutations. Am J Hum Genet 43:620-629.
-
(1988)
Am J Hum Genet
, vol.43
, pp. 620-629
-
-
Darras, B.T.1
Blattner, P.2
Harper, J.F.3
Spiro, A.J.4
Alter, S.5
Francke, U.6
-
13
-
-
0024815723
-
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications
-
Den Dunnen JT, Grootscholten PM, Bakker E, Blonden LAJ, Ginjaar HB, Wapenaar MC, van Paassen HMB, van Broeckhoven C, Pearson PL, van Ommen GJB (1989): Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 45:835-847.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 835-847
-
-
Den Dunnen, J.T.1
Grootscholten, P.M.2
Bakker, E.3
Blonden, L.A.J.4
Ginjaar, H.B.5
Wapenaar, M.C.6
Van Paassen, H.M.B.7
Van Broeckhoven, C.8
Pearson, P.L.9
Van Ommen, G.J.B.10
-
15
-
-
0023241485
-
Preferential deletion of exons in Duchenne and Becker muscular dystrophies
-
Forrest SM, Cross GS, Speer A, Gardner-Medwin D, Burnas J, Davies KE (1987): Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature 329:638-640.
-
(1987)
Nature
, vol.329
, pp. 638-640
-
-
Forrest, S.M.1
Cross, G.S.2
Speer, A.3
Gardner-Medwin, D.4
Burnas, J.5
Davies, K.E.6
-
16
-
-
0023957073
-
Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies
-
Forrest SM, Cross GS, Flint T, Speer A, Robson KJH, Davies KE (1988): Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics 2:109-114.
-
(1988)
Genomics
, vol.2
, pp. 109-114
-
-
Forrest, S.M.1
Cross, G.S.2
Flint, T.3
Speer, A.4
Robson, K.J.H.5
Davies, K.E.6
-
17
-
-
0024430346
-
Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene
-
Gillard EF, Chamberlain JS, Murphy EG, Duff CL, Smith B, Burghes AHM, Thompson MW, Sutherland J, Oss I, Bodrug SE, Klamut HJ, Ray PN, Worton RG (1989): Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am J Hum Genet 45:507-520.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 507-520
-
-
Gillard, E.F.1
Chamberlain, J.S.2
Murphy, E.G.3
Duff, C.L.4
Smith, B.5
Burghes, A.H.M.6
Thompson, M.W.7
Sutherland, J.8
Oss, I.9
Bodrug, S.E.10
Klamut, H.J.11
Ray, P.N.12
Worton, R.G.13
-
18
-
-
0002562211
-
Neuroepidemiological study in semiurban and rural areas in South India-Pattern of neurological disorders including motor neurone disease
-
Gourie-Devi M (ed): New Delhi: Oxford & IBH Publishing Co.
-
Gourie-Devi M, Rao VN, Prakashi R (1987): Neuroepidemiological study in semiurban and rural areas in South India-Pattern of neurological disorders including motor neurone disease. In Gourie-Devi M (ed): "Motor Neurone Disease-Global Clinical Patterns and International Research." New Delhi: Oxford & IBH Publishing Co., pp 11-12.
-
(1987)
Motor Neurone Disease-Global Clinical Patterns and International Research
, pp. 11-12
-
-
Gourie-Devi, M.1
Rao, V.N.2
Prakashi, R.3
-
19
-
-
0024447280
-
Correlation of clinical and deletion data in Duchenne and Decker muscular dystrophy
-
Hodgson S, Hart K, Abbs S, Heckmatt J, Rodillo E, Bobrow M, Dubowitz V (1989): Correlation of clinical and deletion data in Duchenne and Decker muscular dystrophy. J Med Genet 26: 682-693.
-
(1989)
J Med Genet
, vol.26
, pp. 682-693
-
-
Hodgson, S.1
Hart, K.2
Abbs, S.3
Heckmatt, J.4
Rodillo, E.5
Bobrow, M.6
Dubowitz, V.7
-
20
-
-
0023676470
-
Partial gene duplication in Duchenne and Becker muscular dystrophy
-
Hu X, Burghes AHM, Ray PN, Thompson MW, Murphy EG, Worton RG (1988): Partial gene duplication in Duchenne and Becker muscular dystrophy. J Med Genet 25:369-376.
-
(1988)
J Med Genet
, vol.25
, pp. 369-376
-
-
Hu, X.1
Burghes, A.H.M.2
Ray, P.N.3
Thompson, M.W.4
Murphy, E.G.5
Worton, R.G.6
-
21
-
-
0027429105
-
Topographic pattern of the rearrangement of the dystrophin gene in Japanese Duchenne muscular dystrophy
-
Imoto N, Arinami T, Hamano K, Matsumura K, Yamada H, Hamaguchi H, Takita H (1993): Topographic pattern of the rearrangement of the dystrophin gene in Japanese Duchenne muscular dystrophy. Hum Genet 92:533-536.
-
(1993)
Hum Genet
, vol.92
, pp. 533-536
-
-
Imoto, N.1
Arinami, T.2
Hamano, K.3
Matsumura, K.4
Yamada, H.5
Hamaguchi, H.6
Takita, H.7
-
22
-
-
0026386883
-
Frequency and distribution of deletions in dystrophin gene in Duchenne muscular dystrophy patients from an East-European Slavonic population
-
Kádasi L, Gécz J, Saksová L (1991): Frequency and distribution of deletions in dystrophin gene in Duchenne muscular dystrophy patients from an East-European Slavonic population. Gene Geography 5:137-140.
-
(1991)
Gene Geography
, vol.5
, pp. 137-140
-
-
Kádasi, L.1
Gécz, J.2
Saksová, L.3
-
23
-
-
0023904860
-
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
-
Koenig M, Monaco AP, Kunkle LM (1988): The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53:219-228.
-
(1988)
Cell
, vol.53
, pp. 219-228
-
-
Koenig, M.1
Monaco, A.P.2
Kunkle, L.M.3
-
24
-
-
0024466501
-
The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion
-
Koenig M, Beggs AH, Moyer M, Scherpf S, Heindrich K, Bettecken T, Meng G, Savontaus M-L, Gilgenkrawtz H, Recan D, Chelly J, Kaplan J-C, Covone AE, Archidiacono N, Romeo G, Liechti-Gallati S, Schneider V, Braga S, Moser H, Darras BT, Murphy P, Francke U, Chen JD, Morgan G, Denton M, Greenberg CR, van Ommen GJB, Kunkel LM (1989): The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion. Am J Hum Genet 45:498-506.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 498-506
-
-
Koenig, M.1
Beggs, A.H.2
Moyer, M.3
Scherpf, S.4
Heindrich, K.5
Bettecken, T.6
Meng, G.7
Savontaus, M.-L.8
Gilgenkrawtz, H.9
Recan, D.10
Chelly, J.11
Kaplan, J.-C.12
Covone, A.E.13
Archidiacono, N.14
Romeo, G.15
Liechti-Gallati, S.16
Schneider, V.17
Braga, S.18
Moser, H.19
Darras, B.T.20
Murphy, P.21
Francke, U.22
Chen, J.D.23
Morgan, G.24
Denton, M.25
Greenberg, C.R.26
Van Ommen, G.J.B.27
Kunkel, L.M.28
more..
-
25
-
-
0023848792
-
Microdeletions in patients with X-linked muscular dystrophy: Molecular-clinical correlations
-
Lindlof M, Kaarianen H, van Ommen GJB, de la Chapelle A (1988): Microdeletions in patients with X-linked muscular dystrophy: Molecular-clinical correlations. Clin Genet 33:131-139.
-
(1988)
Clin Genet
, vol.33
, pp. 131-139
-
-
Lindlof, M.1
Kaarianen, H.2
Van Ommen, G.J.B.3
De La Chapelle, A.4
-
26
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
-
Monaco AP, Bartelson CJ, Liechti-Gallati S, Moser H, Kunkel LM (1988): An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2:90-95.
-
(1988)
Genomics
, vol.2
, pp. 90-95
-
-
Monaco, A.P.1
Bartelson, C.J.2
Liechti-Gallati, S.3
Moser, H.4
Kunkel, L.M.5
-
27
-
-
0019918301
-
Linkage relationship of a cloned DNA sequence on the short arm of the X-chromosome to Duchenne muscular dystrophy
-
Murray JM, Davies KE, Harper PS, Meredith L, Mueller CR, Williamson R (1982): Linkage relationship of a cloned DNA sequence on the short arm of the X-chromosome to Duchenne muscular dystrophy. Nature 300:69-71.
-
(1982)
Nature
, vol.300
, pp. 69-71
-
-
Murray, J.M.1
Davies, K.E.2
Harper, P.S.3
Meredith, L.4
Mueller, C.R.5
Williamson, R.6
-
28
-
-
0026793658
-
Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy
-
Niemann-Seyde S, Slomski R, Rininsland F, Ellermeyer U, Kwiatkowska J, Reiss J (1992): Molecular genetic analysis of 67 patients with Duchenne/Becker muscular dystrophy. Hum Genet 90:65-70.
-
(1992)
Hum Genet
, vol.90
, pp. 65-70
-
-
Niemann-Seyde, S.1
Slomski, R.2
Rininsland, F.3
Ellermeyer, U.4
Kwiatkowska, J.5
Reiss, J.6
-
30
-
-
0141979487
-
Racial incidence of Duchenne muscular dystrophy in the West Midlands
-
Roddie A, Bundey S (1992): Racial incidence of Duchenne muscular dystrophy in the West Midlands. J Med Genet 29:280.
-
(1992)
J Med Genet
, vol.29
, pp. 280
-
-
Roddie, A.1
Bundey, S.2
-
32
-
-
0026936289
-
Detection of gene deletions in the central region of DMD locus using polymerase chain reaction
-
Sinha S, Pradhan S, Mittal R, Mittal B (1992): Detection of gene deletions in the central region of DMD locus using polymerase chain reaction. Indian J Med Res 96:297-301.
-
(1992)
Indian J Med Res
, vol.96
, pp. 297-301
-
-
Sinha, S.1
Pradhan, S.2
Mittal, R.3
Mittal, B.4
-
33
-
-
0026062480
-
DNA polymorphisms and deletion analysis of the Duchenne-Becker muscular dystrophy gene in the Chinese
-
Soong BW, Tsai TF, Su CH, Kao KP, Hsiao KJ, Su TS (1991): DNA polymorphisms and deletion analysis of the Duchenne-Becker muscular dystrophy gene in the Chinese. Am J Med Genet 38:593-600.
-
(1991)
Am J Med Genet
, vol.38
, pp. 593-600
-
-
Soong, B.W.1
Tsai, T.F.2
Su, C.H.3
Kao, K.P.4
Hsiao, K.J.5
Su, T.S.6
-
34
-
-
0024805416
-
Molecular-genetic study of Duchenne and Becker muscular dystrophies: Deletion analysis of 45 Japanese patients and segregration analysis in their families with RFLPs based on the data from normal Japanese females
-
Sugino S, Fujishita S, Kamimura N, Matsumoto T, Wapenaar MC, Deng HX, Shibuya N, Miike T, Niikawa N (1989): Molecular-genetic study of Duchenne and Becker muscular dystrophies: Deletion analysis of 45 Japanese patients and segregration analysis in their families with RFLPs based on the data from normal Japanese females. Am J Med Genet 34:555-561.
-
(1989)
Am J Med Genet
, vol.34
, pp. 555-561
-
-
Sugino, S.1
Fujishita, S.2
Kamimura, N.3
Matsumoto, T.4
Wapenaar, M.C.5
Deng, H.X.6
Shibuya, N.7
Miike, T.8
Niikawa, N.9
-
35
-
-
0025815192
-
Molecular study of Duchenne and Becker muscular dystrophies in Japanese
-
Tsukamoto H, Inui K, Fukushima H, Nishigaki T, Taniike M, Tanaka J, Okada S (1991): Molecular study of Duchenne and Becker muscular dystrophies in Japanese. J Inherited Metab Dis 14:819-824.
-
(1991)
J Inherited Metab Dis
, vol.14
, pp. 819-824
-
-
Tsukamoto, H.1
Inui, K.2
Fukushima, H.3
Nishigaki, T.4
Taniike, M.5
Tanaka, J.6
Okada, S.7
-
36
-
-
0003489880
-
-
Oxford, UK: Oxford University Press
-
UNICEF (1996): "The State of the World's Children, 1996." Oxford, UK: Oxford University Press, p 80.
-
(1996)
The State of the World's Children, 1996
, pp. 80
-
-
-
37
-
-
0025897394
-
Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies
-
Vainzof M, Pavanello RCM, Pavanello-Filho I, Rapaport D, Passos-Bueno MR, Zubrzycka-Gaarn EE, Bulman DE, Zatz M (1991): Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies. Am J Med Genet 39:38-41.
-
(1991)
Am J Med Genet
, vol.39
, pp. 38-41
-
-
Vainzof, M.1
Pavanello, R.C.M.2
Pavanello-Filho, I.3
Rapaport, D.4
Passos-Bueno, M.R.5
Zubrzycka-Gaarn, E.E.6
Bulman, D.E.7
Zatz, M.8
-
38
-
-
0028319843
-
Detection of dystrophin gene deletion in Chinese Duchenne/Becker muscular dystrophy patients utilizing multiplex polymerase chain reaction
-
Yang RC, Yang SL, Jin SH, Chen HW, Jong YT, Chen SS, Suzuki Y (1994): Detection of dystrophin gene deletion in Chinese Duchenne/Becker muscular dystrophy patients utilizing multiplex polymerase chain reaction. Kaohsiung J Med Sci 10:1-8.
-
(1994)
Kaohsiung J Med Sci
, vol.10
, pp. 1-8
-
-
Yang, R.C.1
Yang, S.L.2
Jin, S.H.3
Chen, H.W.4
Jong, Y.T.5
Chen, S.S.6
Suzuki, Y.7
|