Hansen FJ - Search Results

1

A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysis.

Wallgren-Pettersson C, Avela K, Marchand S, Kolehmainen J, Tahvanainen E, Hansen FJ, Muntoni F, Dubowitz V, De Visser M, Van Langen IM, et al. Wallgren-Pettersson C, et al. Among authors: hansen fj. Neuromuscul Disord. 1995 Nov;5(6):441-3. doi: 10.1016/0960-8966(95)00022-f. Neuromuscul Disord. 1995. PMID: 8580725

2

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.

Poulton J, Morten K, Freeman-Emmerson C, Potter C, Sewry C, Dubowitz V, Kidd H, Stephenson J, Whitehouse W, Hansen FJ, et al. Poulton J, et al. Among authors: hansen fj. Hum Mol Genet. 1994 Oct;3(10):1763-9. doi: 10.1093/hmg/3.10.1763. Hum Mol Genet. 1994. PMID: 7849699

3

An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.

Ravn K, Wibrand F, Hansen FJ, Horn N, Rosenberg T, Schwartz M. Ravn K, et al. Among authors: hansen fj. Eur J Hum Genet. 2001 Oct;9(10):805-9. doi: 10.1038/sj.ejhg.5200712. Eur J Hum Genet. 2001. PMID: 11781695

4

Quantification, by solid-phase minisequencing, of the telomeric and centromeric copies of the survival motor neuron gene in families with spinal muscular atrophy.

Schwartz M, Sørensen N, Hansen FJ, Hertz JM, Nørby S, Tranebjaerg L, Skovby F. Schwartz M, et al. Among authors: hansen fj. Hum Mol Genet. 1997 Jan;6(1):99-104. doi: 10.1093/hmg/6.1.99. Hum Mol Genet. 1997. PMID: 9002676

5

Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.

Ostergaard E, Hansen FJ, Sorensen N, Duno M, Vissing J, Larsen PL, Faeroe O, Thorgrimsson S, Wibrand F, Christensen E, Schwartz M. Ostergaard E, et al. Among authors: hansen fj. Brain. 2007 Mar;130(Pt 3):853-61. doi: 10.1093/brain/awl383. Epub 2007 Feb 7. Brain. 2007. PMID: 17287286

6

Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome.

Jensen PR, Hansen FJ, Skovby F. Jensen PR, et al. Among authors: hansen fj. Neuroradiology. 1995 May;37(4):328-30. doi: 10.1007/BF00588349. Neuroradiology. 1995. PMID: 7666974

7

No correlation between phenotype and genotype in boys with a truncating MECP2 mutation.

Ravn K, Nielsen JB, Uldall P, Hansen FJ, Schwartz M. Ravn K, et al. Among authors: hansen fj. J Med Genet. 2003 Jan;40(1):e5. doi: 10.1136/jmg.40.1.e5. J Med Genet. 2003. PMID: 12525553 Free PMC article. Review. No abstract available.

8

A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.

Ostergaard E, Joensen F, Sundberg K, Duno M, Hansen FJ, Batbayli M, Sørensen N, Born AP. Ostergaard E, et al. Among authors: hansen fj. Acta Paediatr. 2012 Nov;101(11):e509-13. doi: 10.1111/j.1651-2227.2012.02807.x. Epub 2012 Sep 5. Acta Paediatr. 2012. PMID: 22882256

9

Hypertrichosis in patients with SURF1 mutations.

Ostergaard E, Bradinova I, Ravn SH, Hansen FJ, Simeonov E, Christensen E, Wibrand F, Schwartz M. Ostergaard E, et al. Among authors: hansen fj. Am J Med Genet A. 2005 Nov 1;138(4):384-8. doi: 10.1002/ajmg.a.30972. Am J Med Genet A. 2005. PMID: 16222681

10

A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features.

Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M. Kirchhoff M, et al. Among authors: hansen fj. Eur J Med Genet. 2007 Jul-Aug;50(4):256-63. doi: 10.1016/j.ejmg.2007.05.001. Epub 2007 May 18. Eur J Med Genet. 2007. PMID: 17576104

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