Nielsen JB - Search Results

1

MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.

Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N. Nielsen JB, et al. Eur J Hum Genet. 2001 Mar;9(3):178-84. doi: 10.1038/sj.ejhg.5200600. Eur J Hum Genet. 2001. PMID: 11313756

2

A 77-year-old woman and a preserved speech variant among the Danish Rett patients with mutations in MECP2.

Nielsen JB, Ravn K, Schwartz M. Nielsen JB, et al. Brain Dev. 2001 Dec;23 Suppl 1:S230-2. doi: 10.1016/s0387-7604(01)00365-5. Brain Dev. 2001. PMID: 11738879

3

Large genomic rearrangements in MECP2.

Ravn K, Nielsen JB, Skjeldal OH, Kerr A, Hulten M, Schwartz M. Ravn K, et al. Among authors: nielsen jb. Hum Mutat. 2005 Mar;25(3):324. doi: 10.1002/humu.9320. Hum Mutat. 2005. PMID: 15712379

4

Mutations found within exon 1 of MECP2 in Danish patients with Rett syndrome.

Ravn K, Nielsen JB, Schwartz M. Ravn K, et al. Among authors: nielsen jb. Clin Genet. 2005 Jun;67(6):532-3. doi: 10.1111/j.1399-0004.2005.00444.x. Clin Genet. 2005. PMID: 15857422 No abstract available.

5

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: nielsen jb. 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.

6

Early onset seizures and Rett-like features associated with mutations in CDKL5.

Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Christodoulou J, Gécz J, Jardine PE, Wright MJ, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke AJ. Evans JC, et al. Among authors: nielsen jb. Eur J Hum Genet. 2005 Oct;13(10):1113-20. doi: 10.1038/sj.ejhg.5201451. Eur J Hum Genet. 2005. PMID: 16015284

7

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.

Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z, Nielsen JB, Skjeldal OH. Ravn K, et al. Among authors: nielsen jb. Orphanet J Rare Dis. 2011 Aug 30;6:58. doi: 10.1186/1750-1172-6-58. Orphanet J Rare Dis. 2011. PMID: 21878110 Free PMC article. Review.

8

Low bone turnover phenotype in Rett syndrome: results of biochemical bone marker analysis.

Roende G, Petersen J, Ravn K, Fuglsang K, Andersen H, Nielsen JB, Brøndum-Nielsen K, Jensen JE. Roende G, et al. Among authors: nielsen jb. Pediatr Res. 2014 Apr;75(4):551-8. doi: 10.1038/pr.2013.252. Epub 2013 Dec 27. Pediatr Res. 2014. PMID: 24375084

9

Patients with Rett syndrome sustain low-energy fractures.

Roende G, Ravn K, Fuglsang K, Andersen H, Vestergaard A, Brøndum-Nielsen K, Jensen JE, Nielsen JB. Roende G, et al. Among authors: nielsen jb. Pediatr Res. 2011 Apr;69(4):359-64. doi: 10.1203/PDR.0b013e31820bc6d3. Pediatr Res. 2011. PMID: 21178819

10

A thorough MECP2 mutation analysis.

Ravn K, Nielsen JB. Ravn K, et al. Among authors: nielsen jb. Clin Genet. 2008 Dec;74(6):574. doi: 10.1111/j.1399-0004.2008.01082.x. Epub 2008 Oct 24. Clin Genet. 2008. PMID: 18983638 Free PMC article. No abstract available.

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