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Items: 22

1.

Assessment of Digital PCR as a Primary Reference Measurement Procedure to Support Advances in Precision Medicine.

Whale AS, Jones GM, Pavšič J, Dreo T, Redshaw N, Akyürek S, Akgöz M, Divieto C, Sassi MP, He HJ, Cole KD, Bae YK, Park SR, Deprez L, Corbisier P, Garrigou S, Taly V, Larios R, Cowen S, O'Sullivan DM, Bushell CA, Goenaga-Infante H, Foy CA, Woolford AJ, Parkes H, Huggett JF, Devonshire AS.

Clin Chem. 2018 Sep;64(9):1296-1307. doi: 10.1373/clinchem.2017.285478. Epub 2018 Jun 14.

2.

Commutability Assessment of Candidate Reference Materials for Pancreatic α-Amylase.

Deprez L, Toussaint B, Zegers I, Schimmel H, Grote-Koska D, Klauke R, Gella FJ, Orth M, Lessinger JM, Trenti T, Nilsson G, Ceriotti F.

Clin Chem. 2018 Aug;64(8):1193-1202. doi: 10.1373/clinchem.2018.289744. Epub 2018 Jun 14.

3.

Passive and active colloidal chemotaxis in a microfluidic channel: mesoscopic and stochastic models.

Deprez L, de Buyl P.

Soft Matter. 2017 May 21;13(19):3532-3543. doi: 10.1039/c7sm00123a. Epub 2017 Apr 26.

PMID:
28443845
4.

Validation of a digital PCR method for quantification of DNA copy number concentrations by using a certified reference material.

Deprez L, Corbisier P, Kortekaas AM, Mazoua S, Beaz Hidalgo R, Trapmann S, Emons H.

Biomol Detect Quantif. 2016 Aug 30;9:29-39. doi: 10.1016/j.bdq.2016.08.002. eCollection 2016 Sep.

5.

A certified plasmid reference material for the standardisation of BCR-ABL1 mRNA quantification by real-time quantitative PCR.

White H, Deprez L, Corbisier P, Hall V, Lin F, Mazoua S, Trapmann S, Aggerholm A, Andrikovics H, Akiki S, Barbany G, Boeckx N, Bench A, Catherwood M, Cayuela JM, Chudleigh S, Clench T, Colomer D, Daraio F, Dulucq S, Farrugia J, Fletcher L, Foroni L, Ganderton R, Gerrard G, Gineikienė E, Hayette S, El Housni H, Izzo B, Jansson M, Johnels P, Jurcek T, Kairisto V, Kizilors A, Kim DW, Lange T, Lion T, Polakova KM, Martinelli G, McCarron S, Merle PA, Milner B, Mitterbauer-Hohendanner G, Nagar M, Nickless G, Nomdedéu J, Nymoen DA, Leibundgut EO, Ozbek U, Pajič T, Pfeifer H, Preudhomme C, Raudsepp K, Romeo G, Sacha T, Talmaci R, Touloumenidou T, Van der Velden VH, Waits P, Wang L, Wilkinson E, Wilson G, Wren D, Zadro R, Ziermann J, Zoi K, Müller MC, Hochhaus A, Schimmel H, Cross NC, Emons H.

Leukemia. 2015 Feb;29(2):369-76. doi: 10.1038/leu.2014.217. Epub 2014 Jul 18.

6.

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
7.

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.

Deprez L, Weckhuysen S, Holmgren P, Suls A, Van Dyck T, Goossens D, Del-Favero J, Jansen A, Verhaert K, Lagae L, Jordanova A, Van Coster R, Yendle S, Berkovic SF, Scheffer I, Ceulemans B, De Jonghe P.

Neurology. 2010 Sep 28;75(13):1159-65. doi: 10.1212/WNL.0b013e3181f4d7bf.

PMID:
20876469
8.

Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene.

Suls A, Velizarova R, Yordanova I, Deprez L, Van Dyck T, Wauters J, Guergueltcheva V, Claes LR, Kremensky I, Jordanova A, De Jonghe P.

Neurology. 2010 Jul 6;75(1):72-6. doi: 10.1212/WNL.0b013e3181e62088. Epub 2010 May 19.

PMID:
20484682
9.

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.

Liao Y, Deprez L, Maljevic S, Pitsch J, Claes L, Hristova D, Jordanova A, Ala-Mello S, Bellan-Koch A, Blazevic D, Schubert S, Thomas EA, Petrou S, Becker AJ, De Jonghe P, Lerche H.

Brain. 2010 May;133(Pt 5):1403-14. doi: 10.1093/brain/awq057. Epub 2010 Apr 5.

PMID:
20371507
10.

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

Suls A, Mullen SA, Weber YG, Verhaert K, Ceulemans B, Guerrini R, Wuttke TV, Salvo-Vargas A, Deprez L, Claes LR, Jordanova A, Berkovic SF, Lerche H, De Jonghe P, Scheffer IE.

Ann Neurol. 2009 Sep;66(3):415-9. doi: 10.1002/ana.21724.

PMID:
19798636
11.

The SCN1A variant database: a novel research and diagnostic tool.

Claes LR, Deprez L, Suls A, Baets J, Smets K, Van Dyck T, Deconinck T, Jordanova A, De Jonghe P.

Hum Mutat. 2009 Oct;30(10):E904-20. doi: 10.1002/humu.21083.

PMID:
19585586
12.

Genetics of epilepsy syndromes starting in the first year of life.

Deprez L, Jansen A, De Jonghe P.

Neurology. 2009 Jan 20;72(3):273-81. doi: 10.1212/01.wnl.0000339494.76377.d6. Review.

PMID:
19153375
13.

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1.

Suls A, Dedeken P, Goffin K, Van Esch H, Dupont P, Cassiman D, Kempfle J, Wuttke TV, Weber Y, Lerche H, Afawi Z, Vandenberghe W, Korczyn AD, Berkovic SF, Ekstein D, Kivity S, Ryvlin P, Claes LR, Deprez L, Maljevic S, Vargas A, Van Dyck T, Goossens D, Del-Favero J, Van Laere K, De Jonghe P, Van Paesschen W.

Brain. 2008 Jul;131(Pt 7):1831-44. doi: 10.1093/brain/awn113. Epub 2008 Jun 24.

14.

Epilepsy as part of the phenotype associated with ATP1A2 mutations.

Deprez L, Weckhuysen S, Peeters K, Deconinck T, Claeys KG, Claes LR, Suls A, Van Dyck T, Palmini A, Matthijs G, Van Paesschen W, De Jonghe P.

Epilepsia. 2008 Mar;49(3):500-8. Epub 2007 Nov 19.

15.

Familial occipitotemporal lobe epilepsy and migraine with visual aura: linkage to chromosome 9q.

Deprez L, Peeters K, Van Paesschen W, Claeys KG, Claes LR, Suls A, Audenaert D, Van Dyck T, Goossens D, Del-Favero J, De Jonghe P.

Neurology. 2007 Jun 5;68(23):1995-2002. Epub 2007 Apr 25.

PMID:
17460155
16.

A novel GABRG2 mutation associated with febrile seizures.

Audenaert D, Schwartz E, Claeys KG, Claes L, Deprez L, Suls A, Van Dyck T, Lagae L, Van Broeckhoven C, Macdonald RL, De Jonghe P.

Neurology. 2006 Aug 22;67(4):687-90.

PMID:
16924025
17.

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

Suls A, Claeys KG, Goossens D, Harding B, Van Luijk R, Scheers S, Deprez L, Audenaert D, Van Dyck T, Beeckmans S, Smouts I, Ceulemans B, Lagae L, Buyse G, Barisic N, Misson JP, Wauters J, Del-Favero J, De Jonghe P, Claes LR.

Hum Mutat. 2006 Sep;27(9):914-20.

PMID:
16865694
18.

Novel frameshift and splice site mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with hereditary sensory neuropathy type IV.

Verpoorten N, Claeys KG, Deprez L, Jacobs A, Van Gerwen V, Lagae L, Arts WF, De Meirleir L, Keymolen K, Ceuterick-de Groote C, De Jonghe P, Timmerman V, Nelis E.

Neuromuscul Disord. 2006 Jan;16(1):19-25. Epub 2005 Dec 20.

PMID:
16373086
19.

Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation.

Deprez L, Claes LR, Claeys KG, Audenaert D, Van Dyck T, Goossens D, Van Paesschen W, Del-Favero J, Van Broeckhoven C, De Jonghe P.

Hum Genet. 2006 Jan;118(5):618-25. Epub 2005 Nov 5.

PMID:
16273391
20.

A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus.

Audenaert D, Claes L, Claeys KG, Deprez L, Van Dyck T, Goossens D, Del-Favero J, Van Paesschen W, Van Broeckhoven C, De Jonghe P.

J Med Genet. 2005 Dec;42(12):947-52. Epub 2005 Apr 12.

21.

De novo KCNQ2 mutations in patients with benign neonatal seizures.

Claes LR, Ceulemans B, Audenaert D, Deprez L, Jansen A, Hasaerts D, Weckx S, Claeys KG, Del-Favero J, Van Broeckhoven C, De Jonghe P.

Neurology. 2004 Dec 14;63(11):2155-8.

PMID:
15596769
22.

Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures.

Claes L, Audenaert D, Deprez L, Van Paesschen W, Depondt C, Goossens D, Del-Favero J, Van Broeckhoven C, De Jonghe P.

J Med Genet. 2004 Sep;41(9):710-4. No abstract available.

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