Dunø M - Search Results

1

Deletion of exon 16 of the dystrophin gene is not associated with disease.

Schwartz M, Dunø M, Palle AL, Krag T, Vissing J. Schwartz M, et al. Among authors: duno m. Hum Mutat. 2007 Feb;28(2):205. doi: 10.1002/humu.9477. Hum Mutat. 2007. PMID: 17226814

2

Multiple mtDNA deletions with features of MNGIE.

Vissing J, Ravn K, Danielsen ER, Dunø M, Wibrand F, Wevers RA, Schwartz M. Vissing J, et al. Among authors: duno m. Neurology. 2002 Sep 24;59(6):926-9. doi: 10.1212/wnl.59.6.926. Neurology. 2002. PMID: 12297582

3

Decrement of compound muscle action potential is related to mutation type in myotonia congenita.

Colding-Jørgensen E, DunØ M, Schwartz M, Vissing J. Colding-Jørgensen E, et al. Among authors: duno m. Muscle Nerve. 2003 Apr;27(4):449-55. doi: 10.1002/mus.10347. Muscle Nerve. 2003. PMID: 12661046

4

Characterization of two new dominant ClC-1 channel mutations associated with myotonia.

Grunnet M, Jespersen T, Colding-Jørgensen E, Schwartz M, Klaerke DA, Vissing J, Olesen SP, Dunø M. Grunnet M, et al. Among authors: duno m. Muscle Nerve. 2003 Dec;28(6):722-32. doi: 10.1002/mus.10501. Muscle Nerve. 2003. PMID: 14639587 Clinical Trial.

5

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.

Dunø M, Colding-Jørgensen E, Grunnet M, Jespersen T, Vissing J, Schwartz M. Dunø M, et al. Eur J Hum Genet. 2004 Sep;12(9):738-43. doi: 10.1038/sj.ejhg.5201218. Eur J Hum Genet. 2004. PMID: 15162127

6

Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.

Dunø M, Hove H, Kirchhoff M, Devriendt K, Schwartz M. Dunø M, et al. Hum Genet. 2004 Nov;115(6):459-67. doi: 10.1007/s00439-004-1174-y. Epub 2004 Sep 18. Hum Genet. 2004. PMID: 15378350

7

Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.

Ørngreen MC, Dunø M, Ejstrup R, Christensen E, Schwartz M, Sacchetti M, Vissing J. Ørngreen MC, et al. Among authors: duno m. Ann Neurol. 2005 Jan;57(1):60-6. doi: 10.1002/ana.20320. Ann Neurol. 2005. PMID: 15622536

8

Multiplex ligation-dependent probe amplification is superior for detecting deletions/duplications in Duchenne muscular dystrophy.

Schwartz M, Dunø M. Schwartz M, et al. Among authors: duno m. Clin Genet. 2005 Feb;67(2):189-91. doi: 10.1111/j.1399-0004.2004.00382.x. Clin Genet. 2005. PMID: 15679833 No abstract available.

9

Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method.

Schwartz M, Dunø M. Schwartz M, et al. Among authors: duno m. Genet Test. 2004 Winter;8(4):361-7. doi: 10.1089/gte.2004.8.361. Genet Test. 2004. PMID: 15684864 Clinical Trial.

10

dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations.

Melchior L, Schwartz M, Duno M. Melchior L, et al. Among authors: duno m. Ann Hum Genet. 2005 Mar;69(Pt 2):222-6. doi: 10.1046/j.1529-8817.2004.00150.x. Ann Hum Genet. 2005. PMID: 15720303

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