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Duplications in the DMD gene.
White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, Janson AA, Ginjaar HB, Breuning MH, den Dunnen JT. White SJ, et al. Hum Mutat. 2006 Sep;27(9):938-45. doi: 10.1002/humu.20367. Hum Mutat. 2006. PMID: 16917894
In one of the few cases where RNA was analyzed, a seemingly contiguous duplication turned out to be a duplication/deletion case generating a transcript with an unexpected single-exon deletion and an initially undetected duplication. ...Duplication freq …
In one of the few cases where RNA was analyzed, a seemingly contiguous duplication turned out to be a duplication/deletion cas …
Dissecting the structure and mechanism of a complex duplication-triplication rearrangement in the DMD gene.
Ishmukhametova A, Chen JM, Bernard R, de Massy B, Baudat F, Boyer A, Méchin D, Thorel D, Chabrol B, Vincent MC, Khau Van Kien P, Claustres M, Tuffery-Giraud S. Ishmukhametova A, et al. Hum Mutat. 2013 Aug;34(8):1080-4. doi: 10.1002/humu.22353. Epub 2013 Jun 3. Hum Mutat. 2013. PMID: 23649991
Here, we report the molecular characterization of a complex duplication-triplication rearrangement involving exons 45-60 of the DMD gene. Inverted repeats facilitated this complex rearrangement, which shares common genomic organization with the recently described duplic
Here, we report the molecular characterization of a complex duplication-triplication rearrangement involving exons 45-60 of the DMD g …
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, Barbot JC, Récan D, Peccate C, Burghes AH, Béroud C, Garcia L, Kaplan JC, Chelly J, Leturcq F. Deburgrave N, et al. Hum Mutat. 2007 Feb;28(2):183-95. doi: 10.1002/humu.20422. Hum Mutat. 2007. PMID: 17041906
Straightforward detectable Duchenne muscular dystrophy (DMD) gene rearrangements, such as deletions or duplications involving an entire exon or more, are involved in about 70% of dystrophinopathies. ...
Straightforward detectable Duchenne muscular dystrophy (DMD) gene rearrangements, such as deletions or duplications involving an enti …
Transcriptional behavior of DMD gene duplications in DMD/BMD males.
Gualandi F, Neri M, Bovolenta M, Martoni E, Rimessi P, Fini S, Spitali P, Fabris M, Pane M, Angelini C, Mora M, Morandi L, Mongini T, Bertini E, Ricci E, Vattemi G, Mercuri E, Merlini L, Ferlini A. Gualandi F, et al. Hum Mutat. 2009 Feb;30(2):E310-9. doi: 10.1002/humu.20881. Hum Mutat. 2009. PMID: 18853462
We describe 26 DMD gene duplications occurring in 33 unrelated patients and detected among a cohort of 194 mutation-positive DMD/BMD patients. We have characterized at the RNA level 16 of them. Four duplications (15%) behave as exception to the reading frame rule. I …
We describe 26 DMD gene duplications occurring in 33 unrelated patients and detected among a cohort of 194 mutation-positive DMD/BMD …
A single NGS-based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Nallamilli BRR, Chaubey A, Valencia CA, Stansberry L, Behlmann AM, Ma Z, Mathur A, Shenoy S, Ganapathy V, Jagannathan L, Ramachander V, Ferlini A, Bean L, Hegde M. Nallamilli BRR, et al. Hum Mutat. 2021 May;42(5):626-638. doi: 10.1002/humu.24191. Epub 2021 Mar 19. Hum Mutat. 2021. PMID: 33644936
Molecular diagnosis for Duchenne and Becker muscular dystrophies (DMD/BMD) involves a two-tiered approach for detection of deletions/duplications using MLPA or array CGH, followed by sequencing of coding and flanking intronic regions to detect sequence variants, which is t …
Molecular diagnosis for Duchenne and Becker muscular dystrophies (DMD/BMD) involves a two-tiered approach for detection of deletions/dupl