Schwartz 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. Hum Mutat. 2007 Feb;28(2):205. doi: 10.1002/humu.9477. Hum Mutat. 2007. PMID: 17226814

2

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

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

3

Paternal inheritance of mitochondrial DNA.

Schwartz M, Vissing J. Schwartz M, et al. N Engl J Med. 2002 Aug 22;347(8):576-80. doi: 10.1056/NEJMoa020350. N Engl J Med. 2002. PMID: 12192017 Free article. No abstract available.

4

New patterns of inheritance in mitochondrial disease.

Schwartz M, Vissing J. Schwartz M, et al. Biochem Biophys Res Commun. 2003 Oct 17;310(2):247-51. doi: 10.1016/j.bbrc.2003.09.037. Biochem Biophys Res Commun. 2003. PMID: 14521902 Review.

5

No evidence for paternal inheritance of mtDNA in patients with sporadic mtDNA mutations.

Schwartz M, Vissing J. Schwartz M, et al. J Neurol Sci. 2004 Mar 15;218(1-2):99-101. doi: 10.1016/j.jns.2003.11.008. J Neurol Sci. 2004. PMID: 14759640

6

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. Among authors: schwartz m. Eur J Hum Genet. 2004 Sep;12(9):738-43. doi: 10.1038/sj.ejhg.5201218. Eur J Hum Genet. 2004. PMID: 15162127

7

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. Among authors: schwartz m. Hum Genet. 2004 Nov;115(6):459-67. doi: 10.1007/s00439-004-1174-y. Epub 2004 Sep 18. Hum Genet. 2004. PMID: 15378350

8

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: schwartz m. Ann Neurol. 2005 Jan;57(1):60-6. doi: 10.1002/ana.20320. Ann Neurol. 2005. PMID: 15622536

9

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: schwartz 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

10

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

Schwartz M, Hertz JM, Sveen ML, Vissing J. Schwartz M, et al. Neurology. 2005 May 10;64(9):1635-7. doi: 10.1212/01.WNL.0000157654.59374.E5. Neurology. 2005. PMID: 15883334

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