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FOXP1-related intellectual disability syndrome: a recognisable entity.
J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22.
J Med Genet. 2017.
PMID: 28735298
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, Bang B, Béna F, Bockaert N, Bongers EM, de Ravel T, Devriendt K, Giglio S, Faivre L, Joss S, Maas S, Marle N, Novara F, Nowaczyk MJ, Peeters H, Polstra A, Roelens F, Rosenberg C, Thevenon J, Tümer Z, Vanhauwaert S, Varvagiannis K, Willaert A, Willemsen M, Willems M, Zuffardi O, Coucke P, Speleman F, Eichler EE, Kleefstra T, Menten B.
De Rocker N, et al. Among authors: bockaert n.
Genet Med. 2015 Jun;17(6):460-6. doi: 10.1038/gim.2014.124. Epub 2014 Sep 18.
Genet Med. 2015.
PMID: 25232846
Free article.
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Redefining the MED13L syndrome.
Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM.
Adegbola A, et al. Among authors: bockaert n.
Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11.
Eur J Hum Genet. 2015.
PMID: 25758992
Free PMC article.
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Acetazolamide for severe apnea in Pitt-Hopkins syndrome.
Verhulst SL, De Dooy J, Ramet J, Bockaert N, Van Coster R, Ceulemans B, De Backer W.
Verhulst SL, et al. Among authors: bockaert n.
Am J Med Genet A. 2012 Apr;158A(4):932-4. doi: 10.1002/ajmg.a.35247. Epub 2012 Mar 9.
Am J Med Genet A. 2012.
PMID: 22407847
No abstract available.
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TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria.
Jansen AC, Oostra A, Desprechins B, De Vlaeminck Y, Verhelst H, Régal L, Verloo P, Bockaert N, Keymolen K, Seneca S, De Meirleir L, Lissens W.
Jansen AC, et al. Among authors: bockaert n.
Neurology. 2011 Mar 15;76(11):988-92. doi: 10.1212/WNL.0b013e31821043f5.
Neurology. 2011.
PMID: 21403111
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BDNF and DYRK1A are variable and inversely correlated in lymphoblastoid cell lines from Down syndrome patients.
Tlili A, Hoischen A, Ripoll C, Benabou E, Badel A, Ronan A, Touraine R, Grattau Y, Stora S, van Bon B, de Vries B, Menten B, Bockaert N, Gecz J, Antonarakis SE, Campion D, Potier MC, Bléhaut H, Delabar JM, Janel N.
Tlili A, et al. Among authors: bockaert n.
Mol Neurobiol. 2012 Oct;46(2):297-303. doi: 10.1007/s12035-012-8284-7. Epub 2012 Jun 5.
Mol Neurobiol. 2012.
PMID: 22669612
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Limbic encephalitis as presentation of a SAP deficiency.
Verhelst H, Van Coster R, Bockaert N, Laureys G, Latour S, Fischer A, Haerynck F.
Verhelst H, et al. Among authors: bockaert n.
Neurology. 2007 Jul 10;69(2):218-9. doi: 10.1212/01.wnl.0000265597.56202.6c.
Neurology. 2007.
PMID: 17620557
No abstract available.
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