Melchior L - Search Results

1

Deletions and rearrangements of the H19/IGF2 enhancer region in patients with Silver-Russell syndrome and growth retardation.

Grønskov K, Poole RL, Hahnemann JM, Thomson J, Tümer Z, Brøndum-Nielsen K, Murphy R, Ravn K, Melchior L, Dedic A, Dolmer B, Temple IK, Boonen SE, Mackay DJ. Grønskov K, et al. Among authors: melchior l. J Med Genet. 2011 May;48(5):308-11. doi: 10.1136/jmg.2010.086504. Epub 2011 Jan 28. J Med Genet. 2011. PMID: 21278389

2

Glioneuronal tumor with ATRX alteration, kinase fusion and anaplastic features (GTAKA): a molecularly distinct brain tumor type with recurrent NTRK gene fusions.

Bogumil H, Sill M, Schrimpf D, Ismer B, Blume C, Rahmanzade R, Hinz F, Cherkezov A, Banan R, Friedel D, Reuss DE, Selt F, Ecker J, Milde T, Pajtler KW, Schittenhelm J, Hench J, Frank S, Boldt HB, Kristensen BW, Scheie D, Melchior LC, Olesen V, Sehested A, Boué DR, Abdullaev Z, Satgunaseelan L, Kurth I, Seidlitz A, White CL, Ng HK, Shi ZF, Haberler C, Deckert M, Timmer M, Goldbrunner R, Tauziède-Espariat A, Varlet P, Brandner S, Alexandrescu S, Snuderl M, Aldape K, Korshunov A, Witt O, Herold-Mende C, Unterberg A, Wick W, Pfister SM, von Deimling A, Jones DTW, Sahm F, Sievers P. Bogumil H, et al. Among authors: melchior lc. Acta Neuropathol. 2023 May;145(5):667-680. doi: 10.1007/s00401-023-02558-0. Epub 2023 Mar 18. Acta Neuropathol. 2023. PMID: 36933012 Free PMC article.

3

[The genetics of Gilles de la Tourette syndrome].

Bertelsen B, Melchior L, Debes NM, Skov L, Brøndum-Nielsen K, Tümer Z. Bertelsen B, et al. Among authors: melchior l. Ugeskr Laeger. 2012 Feb 20;174(8):484-7. Ugeskr Laeger. 2012. PMID: 22348669 Danish.

4

Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature.

Yasmeen S, Melchior L, Bertelsen B, Skov L, Mol Debes N, Tümer Z. Yasmeen S, et al. Among authors: melchior l. Psychiatr Genet. 2013 Jun;23(3):130-3. doi: 10.1097/YPG.0b013e328360c880. Psychiatr Genet. 2013. PMID: 23528612 Review.

5

Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.

Melchior L, Bertelsen B, Debes NM, Groth C, Skov L, Mikkelsen JD, Brøndum-Nielsen K, Tümer Z. Melchior L, et al. Am J Med Genet B Neuropsychiatr Genet. 2013 Dec;162B(8):825-31. doi: 10.1002/ajmg.b.32186. Epub 2013 Jul 27. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23894120

6

Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome.

Bertelsen B, Melchior L, Jensen LR, Groth C, Glenthøj B, Rizzo R, Debes NM, Skov L, Brøndum-Nielsen K, Paschou P, Silahtaroglu A, Tümer Z. Bertelsen B, et al. Among authors: melchior l. Eur J Hum Genet. 2014 Nov;22(11):1283-9. doi: 10.1038/ejhg.2014.24. Epub 2014 Feb 19. Eur J Hum Genet. 2014. PMID: 24549057 Free PMC article.

7

Association of the CHRNA7 promoter variant -86T with Tourette syndrome and comorbid obsessive-compulsive disorder.

Bertelsen B, Melchior L, Groth C, Mol Debes N, Skov L, Holst KK, Fagerlund B, Mikkelsen JD, Tümer Z. Bertelsen B, et al. Among authors: melchior l. Psychiatry Res. 2014 Nov 30;219(3):710-1. doi: 10.1016/j.psychres.2014.06.032. Epub 2014 Jun 28. Psychiatry Res. 2014. PMID: 25024057 No abstract available.

8

A t(3;9)(q25.1;q34.3) translocation leading to OLFM1 fusion transcripts in Gilles de la Tourette syndrome, OCD and ADHD.

Bertelsen B, Melchior L, Jensen LR, Groth C, Nazaryan L, Debes NM, Skov L, Xie G, Sun W, Brøndum-Nielsen K, Kuss AW, Chen W, Tümer Z. Bertelsen B, et al. Among authors: melchior l. Psychiatry Res. 2015 Feb 28;225(3):268-75. doi: 10.1016/j.psychres.2014.12.028. Epub 2014 Dec 30. Psychiatry Res. 2015. PMID: 25595337

9

A mosaic small supernumerary marker chromosome 17 in a patient with Tourette syndrome, ADHD and intellectual disability: A case story and review of the literature.

Cornelius N, Bertelsen B, Melchior L, Nazaryan L, Debes NM, Groth C, Skov L, Tümer Z. Cornelius N, et al. Among authors: melchior l. Psychiatry Res. 2015 Jul 30;228(1):179-81. doi: 10.1016/j.psychres.2015.03.022. Epub 2015 Mar 31. Psychiatry Res. 2015. PMID: 25935373 No abstract available.

10

Association Study of CHRNA7 Promoter Variants with Sensory and Sensorimotor Gating in Schizophrenia Patients and Healthy Controls: A Danish Case-Control Study.

Bertelsen B, Oranje B, Melchior L, Fagerlund B, Werge TM, Mikkelsen JD, Tümer Z, Glenthøj BY. Bertelsen B, et al. Among authors: melchior l. Neuromolecular Med. 2015 Dec;17(4):423-30. doi: 10.1007/s12017-015-8371-9. Epub 2015 Sep 16. Neuromolecular Med. 2015. PMID: 26376812

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