-
1
-
-
0030271537
-
Prognostic factors in mild dystrophinopathies
-
Angelini C, Fanin M, Freda MP, Martinello F, Miorin M, Malacini P, Siciliano G, Pegoraro E, Rosa M, Danieli GA. 1996. Prognostic factors in mild dystrophinopathies. J Neurol Sci 142:70-78.
-
(1996)
J Neurol Sci
, vol.142
, pp. 70-78
-
-
Angelini, C.1
Fanin, M.2
Freda, M.P.3
Martinello, F.4
Miorin, M.5
Malacini, P.6
Siciliano, G.7
Pegoraro, E.8
Rosa, M.9
Danieli, G.A.10
-
2
-
-
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. 1991. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 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
-
3
-
-
0027417446
-
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy II. Correlation of phenotype with genetic and protein abnormalities
-
Bushby KM, Gardner-Medwin D, Nicholson LV, Johnson MA, Haggerty ID, Cleghorn NJ, Harris JB, Bhattacharya SS. 1993. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy II. Correlation of phenotype with genetic and protein abnormalities. J Neurol 240:105-112.
-
(1993)
J Neurol
, vol.240
, pp. 105-112
-
-
Bushby, K.M.1
Gardner-Medwin, D.2
Nicholson, L.V.3
Johnson, M.A.4
Haggerty, I.D.5
Cleghorn, N.J.6
Harris, J.B.7
Bhattacharya, S.S.8
-
4
-
-
0028902949
-
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA>G, produces a new exon, high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype
-
Chillon M, Dork T, Casals T, Gimenez J, Fonknechten N, Will K, Ramos D, Nunes V, Estivill X. 1995. A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA>G, produces a new exon, high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. Am J Hum Genet 56:623-629.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 623-629
-
-
Chillon, M.1
Dork, T.2
Casals, T.3
Gimenez, J.4
Fonknechten, N.5
Will, K.6
Ramos, D.7
Nunes, V.8
Estivill, X.9
-
5
-
-
0038367709
-
Deletion and dublication analysis in males affected with Duchenne or Becker muscular dystrophy
-
Bushby KMD, Anderson LVB, editors. Totowa, NJ: Humana Press, Inc.
-
Curtis A, Haggerty D. 2001. Deletion and dublication analysis in males affected with Duchenne or Becker muscular dystrophy. In: Bushby KMD, Anderson LVB, editors. Methods in molecular medicine, vol 43: Muscular dystrophy: methods and protocols. Totowa, NJ: Humana Press, Inc. 5:53-84.
-
(2001)
Methods in Molecular Medicine, Vol 43: Muscular Dystrophy: Methods and Protocols
, vol.43
, Issue.5
, pp. 53-84
-
-
Curtis, A.1
Haggerty, D.2
-
6
-
-
0031594471
-
A G>A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2
-
De Klein A, Riegman PH, Bijlsma EK, Heldoom A, Muijtjens M, den Bakker MA, Avezaat CJ, Zwarthoff EC. 1998. A G>A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2. Hum Mol Genet 7:393-398.
-
(1998)
Hum Mol Genet
, vol.7
, pp. 393-398
-
-
De Klein, A.1
Riegman, P.H.2
Bijlsma, E.K.3
Heldoom, A.4
Muijtjens, M.5
Den Bakker, M.A.6
Avezaat, C.J.7
Zwarthoff, E.C.8
-
7
-
-
79960655760
-
The DNA sequence of human chromosome 22
-
Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, Bruskiewich R, Beare DM, Clamp M, Smink LJ, Ainscough R, Almeida JP, Babbage A, Bagguley C, Bailey J, Barlow K, Bates KN, Beasley O, Bird CP, Blakey S, Bridgeman AM, Buck D, Burgess J, Burrill WD, O'Brien KP, et al. 1999. The DNA sequence of human chromosome 22. Nature 402:489-495.
-
(1999)
Nature
, vol.402
, pp. 489-495
-
-
Dunham, I.1
Shimizu, N.2
Roe, B.A.3
Chissoe, S.4
Hunt, A.R.5
Collins, J.E.6
Bruskiewich, R.7
Beare, D.M.8
Clamp, M.9
Smink, L.J.10
Ainscough, R.11
Almeida, J.P.12
Babbage, A.13
Bagguley, C.14
Bailey, J.15
Barlow, K.16
Bates, K.N.17
Beasley, O.18
Bird, C.P.19
Blakey, S.20
Bridgeman, A.M.21
Buck, D.22
Burgess, J.23
Burrill, W.D.24
O'Brien, K.P.25
more..
-
8
-
-
0033841262
-
Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy
-
Felisari G, Martinelli Boneschi F, Bardoni A, Sironi M, Comi GP, Robotti M, Turconi AC, Lai M, Corrao G, Bresolin N. 2000. Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy. Neurology 2000 55:559-564.
-
(2000)
Neurology 2000
, vol.55
, pp. 559-564
-
-
Felisari, G.1
Martinelli Boneschi, F.2
Bardoni, A.3
Sironi, M.4
Comi, G.P.5
Robotti, M.6
Turconi, A.C.7
Lai, M.8
Corrao, G.9
Bresolin, N.10
-
9
-
-
0024332141
-
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy
-
Hoffman EP, Kunkel LM. 1988. Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron 2:1019-1029.
-
(1988)
Neuron
, vol.2
, pp. 1019-1029
-
-
Hoffman, E.P.1
Kunkel, L.M.2
-
10
-
-
0032617734
-
Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy. Mutation in brief no. 213
-
Online
-
Ikezawa M, Nishino I, Goto Y, Miike T, Nonaka I. 1998. Newly recognized exons induced by a splicing abnormality from an intronic mutation of the dystrophin gene resulting in Duchenne muscular dystrophy. Mutation in Brief No. 213. Online. Hum Mutat 13:170.
-
(1998)
Hum Mutat
, vol.13
, pp. 170
-
-
Ikezawa, M.1
Nishino, I.2
Goto, Y.3
Miike, T.4
Nonaka, I.5
-
11
-
-
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. 1992. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet 90:41-54.
-
(1992)
Hum Genet
, vol.90
, pp. 41-54
-
-
Krawczak, M.1
Reiss, J.2
Cooper, D.N.3
-
12
-
-
0034068415
-
Brain dystrophin, neurogenetics and mental retardation
-
Mehler ME 2000. Brain dystrophin, neurogenetics and mental retardation. Brain Res Rev 32:277-307.
-
(2000)
Brain Res Rev
, vol.32
, pp. 277-307
-
-
Mehler, M.E.1
-
13
-
-
0034892609
-
Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity
-
Metherell LA, Akker SA, Munroe PB, Rose SJ, Caulfield M, Savage MO, Chew SL, Clark AJL. 2001. Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity. Am J Hum Genet 69:641-646.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 641-646
-
-
Metherell, L.A.1
Akker, S.A.2
Munroe, P.B.3
Rose, S.J.4
Caulfield, M.5
Savage, M.O.6
Chew, S.L.7
Clark, A.J.L.8
-
14
-
-
0031666477
-
Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?
-
Moizard MP, Billard C, Toutain A, Berret F, Marmin N, Moraine C. 1998. Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy? Am J Med Genet 80:32-41.
-
(1998)
Am J Med Genet
, vol.80
, pp. 32-41
-
-
Moizard, M.P.1
Billard, C.2
Toutain, A.3
Berret, F.4
Marmin, N.5
Moraine, C.6
-
15
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
-
Monaco AP, Bertelson CJ, Liechti-Galliti 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
Bertelson, C.J.2
Liechti-Galliti, S.3
Moser, H.4
Kunkel, L.M.5
-
16
-
-
0036544858
-
A new type of mutation causes a splicing defect in ATM
-
Pagani F, Buratti E, Stuani C, Bendix R, Dork T, Baralle FE. 2002. A new type of mutation causes a splicing defect in ATM. Nat Genet 30:426-429.
-
(2002)
Nat Genet
, vol.30
, pp. 426-429
-
-
Pagani, F.1
Buratti, E.2
Stuani, C.3
Bendix, R.4
Dork, T.5
Baralle, F.E.6
-
17
-
-
0023651307
-
RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
-
Shapiro MB, Senapathy P. 1987. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucleic Acids Res 15:7155-7174.
-
(1987)
Nucleic Acids Res
, vol.15
, pp. 7155-7174
-
-
Shapiro, M.B.1
Senapathy, P.2
-
18
-
-
0032957008
-
Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family
-
Smith TA, Yau SC, Bobrow M, Abbs SA. 1999. Identification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy family. J Med Genet 36:313-315.
-
(1999)
J Med Genet
, vol.36
, pp. 313-315
-
-
Smith, T.A.1
Yau, S.C.2
Bobrow, M.3
Abbs, S.A.4
-
19
-
-
0033846543
-
Multiple splicing defects in an intronic false exon
-
Sun H, Chasin LA. 2000. Multiple splicing defects in an intronic false exon. Mol Cell Biol 20:6414-6425.
-
(2000)
Mol Cell Biol
, vol.20
, pp. 6414-6425
-
-
Sun, H.1
Chasin, L.A.2
-
20
-
-
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, Claustres M. 1999. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. Hum Mutat:359-368.
-
(1999)
Hum Mutat
, pp. 359-368
-
-
Tuffery-Giraud, S.1
Chambert, S.2
Demaille, J.3
Claustres, M.4
-
21
-
-
0026571472
-
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: A European study
-
van Essen AJ, Abbs S, Baiget M, Bakker E, Boileau C, van Broeckhoven C, Bushby K, Clarke A, Claustres M, Covone AE, et al. 1992. Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. Hum Genet 88:249-257.
-
(1992)
Hum Genet
, vol.88
, pp. 249-257
-
-
Van Essen, A.J.1
Abbs, S.2
Baiget, M.3
Bakker, E.4
Boileau, C.5
Van Broeckhoven, C.6
Bushby, K.7
Clarke, A.8
Claustres, M.9
Covone, A.E.10
-
22
-
-
0032406569
-
A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element intron 8 of the B-glucuronidase gene
-
Vervoort R, Gitzelmann R, Lissens W, Liebaers I. 1998. A mutation (IVS8+0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element intron 8 of the B-glucuronidase gene. Hum Genet 103:686-693.
-
(1998)
Hum Genet
, vol.103
, pp. 686-693
-
-
Vervoort, R.1
Gitzelmann, R.2
Lissens, W.3
Liebaers, I.4
-
23
-
-
0030949095
-
A point mutation in the human estrogen receptor gene is associated with the expression of an abnormal estrogen receptor mRNA containing a 69 novel nucleotide insertion
-
Wang M, Dotzlaw H, Fuqua SA, Murphy LC. 1997. A point mutation in the human estrogen receptor gene is associated with the expression of an abnormal estrogen receptor mRNA containing a 69 novel nucleotide insertion. Breast Cancer Treat 44:145-151.
-
(1997)
Breast Cancer Treat
, vol.44
, pp. 145-151
-
-
Wang, M.1
Dotzlaw, H.2
Fuqua, S.A.3
Murphy, L.C.4
|