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Mutations in ADNP affect expression and subcellular localization of the protein.
Cappuyns E, Huyghebaert J, Vandeweyer G, Kooy RF. Cappuyns E, et al. Among authors: vandeweyer g. Cell Cycle. 2018;17(9):1068-1075. doi: 10.1080/15384101.2018.1471313. Epub 2018 Jul 17. Cell Cycle. 2018. PMID: 29911927 Free PMC article.
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
Ajit Bolar N, Vanlander AV, Wilbrecht C, Van der Aa N, Smet J, De Paepe B, Vandeweyer G, Kooy F, Eyskens F, De Latter E, Delanghe G, Govaert P, Leroy JG, Loeys B, Lill R, Van Laer L, Van Coster R. Ajit Bolar N, et al. Among authors: vandeweyer g. Hum Mol Genet. 2013 Jul 1;22(13):2590-602. doi: 10.1093/hmg/ddt107. Epub 2013 Mar 5. Hum Mol Genet. 2013. PMID: 23462291
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. Helsmoortel C, et al. Among authors: vandeweyer g. Nat Genet. 2014 Apr;46(4):380-4. doi: 10.1038/ng.2899. Epub 2014 Feb 16. Nat Genet. 2014. PMID: 24531329 Free PMC article.
The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey--ADNP Mutation.
Gozes I, Helsmoortel C, Vandeweyer G, Van der Aa N, Kooy F, Bedrosian-Sermone S. Gozes I, et al. Among authors: vandeweyer g. J Mol Neurosci. 2015 Aug;56(4):751-757. doi: 10.1007/s12031-015-0586-6. J Mol Neurosci. 2015. PMID: 26168855 No abstract available.
Erratum to: The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey--ADNP Mutation.
Gozes I, Helsmoortel C, Vandeweyer G, Van der Aa N, Kooy F, Sermone SB. Gozes I, et al. Among authors: vandeweyer g. J Mol Neurosci. 2016 Apr;58(4):535. doi: 10.1007/s12031-016-0737-4. J Mol Neurosci. 2016. PMID: 27023101 No abstract available.
Correction to: The Compassionate Side of Neuroscience: Tony Sermone's Undiagnosed Genetic Journey-ADNP Mutation.
Gozes I, Helsmoortel C, Vandeweyer G, Van der Aa N, Kooy F, Bedrosian-Sermone S. Gozes I, et al. Among authors: vandeweyer g. J Mol Neurosci. 2018 Feb;64(2):331. doi: 10.1007/s12031-018-1028-z. J Mol Neurosci. 2018. PMID: 29353437
Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, Bernier R, Gozes I, Eichler EE, Romano C, Lindstrand A, Nordgren A; ADNP Consortium, Kvarnung M, Kleefstra T, de Vries BBA, Küry S, Rosenfeld JA, Meuwissen ME, Vandeweyer G, Kooy RF. Van Dijck A, et al. Among authors: vandeweyer g. Biol Psychiatry. 2019 Feb 15;85(4):287-297. doi: 10.1016/j.biopsych.2018.02.1173. Epub 2018 Mar 15. Biol Psychiatry. 2019. PMID: 29724491 Free PMC article.
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.
Geisheker MR, Heymann G, Wang T, Coe BP, Turner TN, Stessman HAF, Hoekzema K, Kvarnung M, Shaw M, Friend K, Liebelt J, Barnett C, Thompson EM, Haan E, Guo H, Anderlid BM, Nordgren A, Lindstrand A, Vandeweyer G, Alberti A, Avola E, Vinci M, Giusto S, Pramparo T, Pierce K, Nalabolu S, Michaelson JJ, Sedlacek Z, Santen GWE, Peeters H, Hakonarson H, Courchesne E, Romano C, Kooy RF, Bernier RA, Nordenskjöld M, Gecz J, Xia K, Zweifel LS, Eichler EE. Geisheker MR, et al. Among authors: vandeweyer g. Nat Neurosci. 2017 Aug;20(8):1043-1051. doi: 10.1038/nn.4589. Epub 2017 Jun 19. Nat Neurosci. 2017. PMID: 28628100 Free PMC article.
A de novo balanced t(2;6)(p15;p22.3) in a patient with West Syndrome disrupts a lnc-RNA.
Vandeweyer G, Van der Aa N, Ceulemans B, van Bon BW, Rooms L, Kooy RF. Vandeweyer G, et al. Epilepsy Res. 2012 May;99(3):346-9. doi: 10.1016/j.eplepsyres.2011.12.009. Epub 2012 Jan 13. Epilepsy Res. 2012. PMID: 22245136
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia.
Bolar NA, Golzio C, Živná M, Hayot G, Van Hemelrijk C, Schepers D, Vandeweyer G, Hoischen A, Huyghe JR, Raes A, Matthys E, Sys E, Azou M, Gubler MC, Praet M, Van Camp G, McFadden K, Pediaditakis I, Přistoupilová A, Hodaňová K, Vyleťal P, Hartmannová H, Stránecký V, Hůlková H, Barešová V, Jedličková I, Sovová J, Hnízda A, Kidd K, Bleyer AJ, Spong RS, Vande Walle J, Mortier G, Brunner H, Van Laer L, Kmoch S, Katsanis N, Loeys BL. Bolar NA, et al. Among authors: vandeweyer g. Am J Hum Genet. 2016 Jul 7;99(1):174-87. doi: 10.1016/j.ajhg.2016.05.028. Am J Hum Genet. 2016. PMID: 27392076 Free PMC article.
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