Publikationer fra Center for Rett Syndrom

​26. Grønskov K, Diness B, Stahlhut M, Zilmer M, Tümer Z, Bisgaard AM, Brøndum-Nielsen K.
Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.
Eur J Med Genet. 2014 May-Jun;57(6):284-7. doi: 10.1016/j.ejmg.2014.03.009. Epub 2014 Apr 13.

25. Roende G, Petersen J, Ravn K, Fuglsang K, Andersen H, Nielsen JB, Brøndum-Nielsen K, Jensen JE
Low bone turnover phenotype in Rett syndrome: results of biochemical bone marker analysis.
Pediatr Res. 2014 Apr;75(4):551-8. doi: 10.1038/pr.2013.252. Epub 2013 Dec 
27.

24. What led professionals to order a mutation analysis of MECP2 in girls who turned out to have a mutation?
Anne-Marie Bisgaard, Jane Lunding Larsen, Birgit Syhler, Kirstine Ravn
Poster, 3rd European Rett Syndrome Conference, Maastricht. Oktober 2013
 
23. A study of mortality in Rett Syndrome in Denmark
Line Møller Lybech, Birgit Syhler, Marlene B. Lauritsen, Anne-Marie Bisgaard
Poster, 3rd European Rett Syndrome Conference, Maastricht. Oktober 2013

22. Rett networked database: An integrated clinical and genetic network of rett syndrome databases
Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong J, Martinez AR, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaški Bošnjak V, Polgár N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A, Renieri A.
Hum Mutat. 2012 Jul;33(7):1031-6. doi: 10.1002/humu.22072. Epub 2012 Apr 13

21. Center for Rett Syndrome in Denmark is now permanent: A solid basis for clinical and molecular research and for optimizing treatment strategies.
Anne-Marie Bisgaard, Jakob Lorentzen, Birgit Syhler, Karina Kragerup, Kirstine Ravn.
Poster. 7th World Rett syndrome Congress. Juni 2012

20. A Genotype-phenotype study focused on Motor Function in 64 Danish persons with Rett Syndrome.
Jakob Lorentzen, Kirstine Ravn, Gitte Roende, Kathrine Fuglsang, Birgit Syhler, Anne-Marie Bisgaard.
Poster. 7th World Rett syndrome Congress. Juni 2012.
 
19. Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases.
Pini G, Bigoni S, Engerström IW, Calabrese O, Felloni B, Scusa MF, Di Marco P, Borelli P, Bonuccelli U, Julu PO, Nielsen JB, Morin B, Hansen S, Gobbi G, Visconti P, Pintaudi M, Edvige V, Romanelli A, Bianchi F, Casarano M, Battini R, Cioni G, Ariani F, Renieri A, Benincasa A, Delamont RS, Zappella M; ESRRA group.
Neuropediatrics. 2012 Feb;43(1):37-43.
 
18. DXA measurements in Rett syndrome reveal small bones with low bone mass.
Roende G, Ravn K, Fuglsang K, Andersen H, Nielsen JB, Brøndum-Nielsen K, Jensen JE.
J Bone Miner Res. 2011 Sep;26(9):2280-6. doi: 10.1002/jbmr.423.

17. 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.
Orphanet J Rare Dis. 2011 Aug 30;6:58.

16. 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.
Pediatr Res. 2011 Apr;69(4):359-64.
 
15. Ravn K, Nielsen J. A thorough MECP2 mutation analysis. Clin Genet. 2008 74(6):574 [Epub ahead of print]
 
14. Evans JC, Archer HL, Colley JP, Ravn K, Nielsen JB, Kerr A, Williams E, Jardine P, Wright M, Christodoulou J, Gécz J, Pilz DT, Lazarou L, Cooper DN, Sampson JR, Butler R, Whatley SD, Clarke A. Three new cases of early-onset seizures with some features of Rett syndrome caused by mutations in CDKL5. Eur J Hum Genet. 2005
 
13. Ravn K, Nielsen JB, Schwartz M. Mutations found within exon 1 of MECP2 in Danish patients with Rett Syndrome. Clin Genet. 2005 Jun;67(6):532-3
 
12. Ravn K, Nielsen JB, Skjeldal OH, Kerr S, Hulten M, Schwartz M. Large genomic rearrangements in the MECP2 gene. Hum Mutat. 2005;25(3):324

11. Ravn K, Nielsen JB, Uldall P, Hansen FJ, Schwartz M. No correlation between phenotype and genotype in boys with a truncating MECP2 mutation. J Med Genet 2003;40(1):E5

10. Nielsen JB, Ravn K, Schwartz M. A 77-year-old woman and preserved speech variant among the Danish Rett patients with mutations in MECP2. Brain Dev 2001;23 suppl 1, S230-S232

9. Nielsen JB, Henriksen KF, Hansen C, Silahtaroglu A, Schwartz M, Tommerup N. 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. Eur J Hum Genet 2001;9:178-84
 
8. Nielsen JB, Skovby F. Retts syndrom: Medfødt defekt i et transkriptionshæmmende protein. Ugeskr for læger 2000;162:672

7. Nielsen, JB. Rett Syndrom. Progredierende neurodegeneration eller neuronal udviklingsdefekt. Prævalens, klinik og patogenese. Disputats 1999, Forlaget LEV, Hvidovre.

6. Nielsen JB, Toft PB, Reske-Nielsen E, Nielsen KE, Christiansen P, Thomsen C, Henriksen O, Lou HC. Cerebral magnetic resonance spectroscopy in Rett syndrome. Failure to detect mitochondrial disorder. Brain Dev 1993;15:107-112

5. Nielsen JB, Bertelsen A, Lou HC. Low CSF HVA levels in Rett syndrome: A reflection of restricted synapse formation? Brain Dev 1992;14,suppl.:63-65

4. Nielsen JB, Bach FW, Buchholt J, Lou H. Cerebrospinal fluid ß-endorphin in Rett syndrome. Dev Med Child Neurol 1991;33:406-411

3. Nielsen JB, Friberg L, Lou H, Lassen NA, Sam ILK. Immature pattern of brain activity in Rett syndrome. Arch Neurol 1990;47:982-986

2. Nielsen JB, Lou HC, Andresen J. Biochemical and clinical effects of tyrosine and tryptophan in the Rett syndrome. Brain Dev 1990;12:143-147

1. Nielsen JB. Rett syndrom. En hyppig årsag til mental retardering blandt piger. Oversigtsartikel. Ugeskr for Læger, 1988;150:1597-1602


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