-
1
-
-
0023718118
-
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
-
PMID: 3384440
-
Monaco AP, Bertelson CJ, Liechti-Gallati S. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 1988, 2(1):90-95. PMID: 3384440
-
(1988)
Genomics
, vol.2
, Issue.1
, pp. 90-95
-
-
Monaco, A.P.1
Bertelson, C.J.2
Liechti-Gallati, S.3
-
2
-
-
0344420060
-
Dystrophin and mutations: one gene, several proteins, multiple phenotypes [Review]
-
PMID: 14636778
-
Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes [Review]. Lancet Neurol 2003, 2(12):731-740. PMID: 14636778
-
(2003)
Lancet Neurol
, vol.2
, Issue.12
, pp. 731-740
-
-
Muntoni, F.1
Torelli, S.2
Ferlini, A.3
-
3
-
-
42949155147
-
Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule
-
PMID: 18348289
-
Kesari A, Pirra LN, Bremadesam L. Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule. Hum Mutat 2008, 29(5):728-737. PMID: 18348289
-
(2008)
Hum Mutat
, vol.29
, Issue.5
, pp. 728-737
-
-
Kesari, A.1
Pirra, L.N.2
Bremadesam, L.3
-
4
-
-
51549094171
-
Microarray-based mutation detection in the dystrophin gene
-
PMID: 18663755
-
Hegde MR, Chin EL, Mulle JG. Microarray-based mutation detection in the dystrophin gene. Hum Mutat 2008, 29(9):1091-1099. PMID: 18663755
-
(2008)
Hum Mutat
, vol.29
, Issue.9
, pp. 1091-1099
-
-
Hegde, M.R.1
Chin, E.L.2
Mulle, J.G.3
-
5
-
-
51549110163
-
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization
-
PMID: 18752307
-
del Gaudio D, Yang Y, Boggs BA. Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat 2008, 29(9):1100-1107. PMID: 18752307
-
(2008)
Hum Mutat
, vol.29
, Issue.9
, pp. 1100-1107
-
-
del Gaudio, D.1
Yang, Y.2
Boggs, B.A.3
-
6
-
-
58149284049
-
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
-
PMID: 19040728
-
Bovolenta M, Neri M, Fini S. 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. PMID: 19040728
-
(2008)
BMC Genomics
, vol.9
, pp. 572
-
-
Bovolenta, M.1
Neri, M.2
Fini, S.3
-
7
-
-
17644397384
-
Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome
-
[Epub 2005 Mar 8]. PubMed PMID: 15756638
-
Dhami P, Coffey AJ, Abbs S. Exon array CGH: detection of copy-number changes at the resolution of individual exons in the human genome. Am J Hum Genet 2005, 76(5):750-762. [Epub 2005 Mar 8]. PubMed PMID: 15756638
-
(2005)
Am J Hum Genet
, vol.76
, Issue.5
, pp. 750-762
-
-
Dhami, P.1
Coffey, A.J.2
Abbs, S.3
-
8
-
-
51549110776
-
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method
-
PubMed PMID: 18683213
-
Saillour Y, Cossée M, Leturcq F. Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method. Hum Mutat 2008, 29(9):1083-1090. PubMed PMID: 18683213
-
(2008)
Hum Mutat
, vol.29
, Issue.9
, pp. 1083-1090
-
-
Saillour, Y.1
Cossée, M.2
Leturcq, F.3
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