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Items: 24

1.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

Renaud M, Moreira MC, Ben Monga B, Rodriguez D, Debs R, Charles P, Chaouch M, Ferrat F, Laurencin C, Vercueil L, Mallaret M, M'Zahem A, Pacha LA, Tazir M, Tilikete C, Ollagnon E, Ochsner F, Kuntzer T, Jung HH, Beis JM, Netter JC, Djamshidian A, Bower M, Bottani A, Walsh R, Murphy S, Reiley T, Bieth É, Roelens F, Poll-The BT, Lourenço CM, Jardim LB, Straussberg R, Landrieu P, Roze E, Thobois S, Pouget J, Guissart C, Goizet C, Dürr A, Tranchant C, Koenig M, Anheim M.

JAMA Neurol. 2018 Apr 1;75(4):495-502. doi: 10.1001/jamaneurol.2017.4373.

2.

SPG20 mutation in three siblings with familial hereditary spastic paraplegia.

Dardour L, Roelens F, Race V, Souche E, Holvoet M, Devriendt K.

Cold Spring Harb Mol Case Stud. 2017 Jul 5;3(4). pii: a001537. doi: 10.1101/mcs.a001537. Print 2017 Jul.

3.

Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts.

Vandervore L, Stouffs K, Tanyalçin I, Vanderhasselt T, Roelens F, Holder-Espinasse M, Jørgensen A, Pepin MG, Petit F, Khau Van Kien P, Bahi-Buisson N, Lissens W, Gheldof A, Byers PH, Jansen AC.

J Med Genet. 2017 Jun;54(6):432-440. doi: 10.1136/jmedgenet-2016-104421. Epub 2017 Mar 3.

PMID:
28258187
4.

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME.

Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14.

5.

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.

Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11.

6.

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.

Genet Med. 2015 Jun;17(6):460-6. doi: 10.1038/gim.2014.124. Epub 2014 Sep 18.

PMID:
25232846
7.

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation.

Fieremans N, Bauters M, Belet S, Verbeeck J, Jansen AC, Seneca S, Roelens F, De Baere E, Marynen P, Froyen G.

Hum Genet. 2014 Nov;133(11):1359-67. doi: 10.1007/s00439-014-1469-6. Epub 2014 Jul 19.

PMID:
25037250
8.

Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

Vergult S, Van Binsbergen E, Sante T, Nowak S, Vanakker O, Claes K, Poppe B, Van der Aa N, van Roosmalen MJ, Duran K, Tavakoli-Yaraki M, Swinkels M, van den Boogaard MJ, van Haelst M, Roelens F, Speleman F, Cuppen E, Mortier G, Kloosterman WP, Menten B.

Eur J Hum Genet. 2014 May;22(5):652-9. doi: 10.1038/ejhg.2013.220. Epub 2013 Oct 9.

9.

PRRT2 mutations: exploring the phenotypical boundaries.

Djémié T, Weckhuysen S, Holmgren P, Hardies K, Van Dyck T, Hendrickx R, Schoonjans AS, Van Paesschen W, Jansen AC, De Meirleir L, Selim LA, Girgis MY, Buyse G, Lagae L, Smets K, Smouts I, Claeys KG, Van den Bergh V, Grisar T, Blatt I, Shorer Z, Roelens F, Afawi Z, Helbig I, Ceulemans B, De Jonghe P, Suls A.

J Neurol Neurosurg Psychiatry. 2014 Apr;85(4):462-5. doi: 10.1136/jnnp-2013-305122. Epub 2013 Oct 7.

PMID:
24101679
10.

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

Weckhuysen S, Mandelstam S, Suls A, Audenaert D, Deconinck T, Claes LR, Deprez L, Smets K, Hristova D, Yordanova I, Jordanova A, Ceulemans B, Jansen A, Hasaerts D, Roelens F, Lagae L, Yendle S, Stanley T, Heron SE, Mulley JC, Berkovic SF, Scheffer IE, de Jonghe P.

Ann Neurol. 2012 Jan;71(1):15-25. doi: 10.1002/ana.22644.

PMID:
22275249
11.

Early onset collagen VI myopathies: Genetic and clinical correlations.

Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E, Makri S, Ferreiro A, Maugenre S, Topaloglu H, Haliloglu G, Pénisson-Besnier I, Jeannet PY, Merlini L, Navarro C, Toutain A, Chaigne D, Desguerre I, de Die-Smulders C, Dunand M, Echenne B, Eymard B, Kuntzer T, Maincent K, Mayer M, Plessis G, Rivier F, Roelens F, Stojkovic T, Taratuto AL, Lubieniecki F, Monges S, Tranchant C, Viollet L, Romero NB, Estournet B, Guicheney P, Allamand V.

Ann Neurol. 2010 Oct;68(4):511-20. doi: 10.1002/ana.22087.

PMID:
20976770
12.

Neuromyelitis optica-IgG+ optic neuritis associated with celiac disease and dysgammaglobulinemia: a role for tacrolimus?

Meyts I, Jansen K, Renard M, Bossuyt X, Roelens F, Régal L, Lagae L, Buyse G.

Eur J Paediatr Neurol. 2011 May;15(3):265-7. doi: 10.1016/j.ejpn.2010.09.005. Epub 2010 Nov 12.

PMID:
20937563
13.

Rating scales for dystonia in cerebral palsy: reliability and validity.

Monbaliu E, Ortibus E, Roelens F, Desloovere K, Deklerck J, Prinzie P, de Cock P, Feys H.

Dev Med Child Neurol. 2010 Jun;52(6):570-5. doi: 10.1111/j.1469-8749.2009.03581.x. Epub 2010 Jan 28.

14.

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum.

Goizet C, Boukhris A, Maltete D, Guyant-Maréchal L, Truchetto J, Mundwiller E, Hanein S, Jonveaux P, Roelens F, Loureiro J, Godet E, Forlani S, Melki J, Auer-Grumbach M, Fernandez JC, Martin-Hardy P, Sibon I, Sole G, Orignac I, Mhiri C, Coutinho P, Durr A, Brice A, Stevanin G.

Neurology. 2009 Oct 6;73(14):1111-9. doi: 10.1212/WNL.0b013e3181bacf59.

PMID:
19805727
15.

Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome.

Ramaekers VT, Sequeira JM, Artuch R, Blau N, Temudo T, Ormazabal A, Pineda M, Aracil A, Roelens F, Laccone F, Quadros EV.

Neuropediatrics. 2007 Aug;38(4):179-83.

16.

Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?

Moog U, Roelens F, Mortier GR, Sijstermans H, Kelly M, Cox GF, Robson CD, Kimonis VE.

Am J Med Genet A. 2007 Dec 15;143A(24):2973-80.

PMID:
18000896
17.

Subtle side-chain modifications of the hop phytoestrogen 8-prenylnaringenin result in distinct agonist/antagonist activity profiles for estrogen receptors alpha and beta.

Roelens F, Heldring N, Dhooge W, Bengtsson M, Comhaire F, Gustafsson JA, Treuter E, De Keukeleire D.

J Med Chem. 2006 Dec 14;49(25):7357-65.

PMID:
17149865
18.

MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V.

Brain. 2006 Aug;129(Pt 8):2093-102. Epub 2006 May 19.

PMID:
16714318
19.

Anti-proliferative properties of prenylated flavonoids from hops (Humulus lupulus L.) in human prostate cancer cell lines.

Delmulle L, Bellahcène A, Dhooge W, Comhaire F, Roelens F, Huvaere K, Heyerick A, Castronovo V, De Keukeleire D.

Phytomedicine. 2006 Nov;13(9-10):732-4. Epub 2006 May 5.

PMID:
16678392
20.

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.

Giusti B, Lucarini L, Pietroni V, Lucioli S, Bandinelli B, Sabatelli P, Squarzoni S, Petrini S, Gartioux C, Talim B, Roelens F, Merlini L, Topaloglu H, Bertini E, Guicheney P, Pepe G.

Ann Neurol. 2005 Sep;58(3):400-10.

PMID:
16130093
21.

Regioselective synthesis and estrogenicity of (+/-)-8-alkyl-5,7-dihydroxy-4-(4-hydroxyphenyl)-3,4-dihydrocoumarins.

Roelens F, Huvaere K, Dhooge W, Van Cleemput M, Comhaire F, De Keukeleire D.

Eur J Med Chem. 2005 Oct;40(10):1042-51. Epub 2005 Jun 13.

PMID:
15951062
22.

Photolysis of hop-derived trans-iso-alpha-acids and trans-tetrahydroiso-alpha-acids: product identification in relation to the lightstruck flavour of beer.

Heyerick A, Zhao Y, Sandra P, Huvaere K, Roelens F, De Keukeleire D.

Photochem Photobiol Sci. 2003 Mar;2(3):306-14.

PMID:
12713232
23.

Subependymal nodular heterotopia in patients with encephalocele.

Roelens FA, Barth PG, van der Harten JJ.

Eur J Paediatr Neurol. 1999;3(2):59-63.

PMID:
10700540
24.

Perinatal cortical infarction within middle cerebral artery trunks.

Govaert P, Matthys E, Zecic A, Roelens F, Oostra A, Vanzieleghem B.

Arch Dis Child Fetal Neonatal Ed. 2000 Jan;82(1):F59-63.

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