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Page 1
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo Giudice M, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Räber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE. Mefford HC, et al. Among authors: verloo p. N Engl J Med. 2008 Oct 16;359(16):1685-99. doi: 10.1056/NEJMoa0805384. Epub 2008 Sep 10. N Engl J Med. 2008. PMID: 18784092 Free PMC article.
Recurrent arterial ischemic stroke with good response to mycophenolate mofetil.
Van Driessche B, Verloo P, Herregods N, Mondelaers V, Dehoorne J, Van Coster R, Verhelst H. Van Driessche B, et al. Among authors: verloo p. Eur J Paediatr Neurol. 2019 Jan;23(1):222-227. doi: 10.1016/j.ejpn.2018.11.003. Epub 2018 Nov 14. Eur J Paediatr Neurol. 2019. PMID: 30528093
Hypocretin-1 deficiency in a girl with ROHHAD syndrome.
Dhondt K, Verloo P, Verhelst H, Van Coster R, Overeem S. Dhondt K, et al. Among authors: verloo p. Pediatrics. 2013 Sep;132(3):e788-92. doi: 10.1542/peds.2012-3225. Epub 2013 Aug 12. Pediatrics. 2013. PMID: 23940246
Mitochondrial mosaics in the liver of 3 infants with mtDNA defects.
Roels F, Verloo P, Eyskens F, François B, Seneca S, De Paepe B, Martin JJ, Meersschaut V, Praet M, Scalais E, Espeel M, Smet J, Van Goethem G, Van Coster R. Roels F, et al. Among authors: verloo p. BMC Clin Pathol. 2009 Jun 5;9:4. doi: 10.1186/1472-6890-9-4. BMC Clin Pathol. 2009. PMID: 19500334 Free PMC article.
A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.
Tavernier SJ, Athanasopoulos V, Verloo P, Behrens G, Staal J, Bogaert DJ, Naesens L, De Bruyne M, Van Gassen S, Parthoens E, Ellyard J, Cappello J, Morris LX, Van Gorp H, Van Isterdael G, Saeys Y, Lamkanfi M, Schelstraete P, Dehoorne J, Bordon V, Van Coster R, Lambrecht BN, Menten B, Beyaert R, Vinuesa CG, Heissmeyer V, Dullaers M, Haerynck F. Tavernier SJ, et al. Among authors: verloo p. Nat Commun. 2019 Oct 21;10(1):4779. doi: 10.1038/s41467-019-12704-6. Nat Commun. 2019. PMID: 31636267 Free PMC article.
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: verloo p. Neurology. 2011 Mar 15;76(11):988-92. doi: 10.1212/WNL.0b013e31821043f5. Neurology. 2011. PMID: 21403111
Author Correction: A human immune dysregulation syndrome characterized by severe hyperinflammation with a homozygous nonsense Roquin-1 mutation.
Tavernier SJ, Athanasopoulos V, Verloo P, Behrens G, Staal J, Bogaert DJ, Naesens L, De Bruyne M, Van Gassen S, Parthoens E, Ellyard J, Cappello J, Morris LX, Van Gorp H, Van Isterdael G, Saeys Y, Lamkanfi M, Schelstraete P, Dehoorne J, Bordon V, Van Coster R, Lambrecht BN, Menten B, Beyaert R, Vinuesa CG, Heissmeyer V, Dullaers M, Haerynck F. Tavernier SJ, et al. Among authors: verloo p. Nat Commun. 2019 Nov 20;10(1):5337. doi: 10.1038/s41467-019-13379-9. Nat Commun. 2019. PMID: 31745085 Free PMC article.
33 results