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Items: 22

1.

[(S)un (M)ay (A)rise on SMA : the hope of a region without spinal muscular atrophy].

Boemer F, Caberg JH, Dideberg V, Beckers P, Marie S, Marcelis L, Bours V, Dangouloff T, Servais L.

Rev Med Liege. 2019 Sep;74(9):461-464. French.

PMID:
31486315
2.

Newborn screening for SMA in Southern Belgium.

Boemer F, Caberg JH, Dideberg V, Dardenne D, Bours V, Hiligsmann M, Dangouloff T, Servais L.

Neuromuscul Disord. 2019 May;29(5):343-349. doi: 10.1016/j.nmd.2019.02.003. Epub 2019 Feb 15.

PMID:
31030938
3.

A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.

Boemer F, Fasquelle C, d'Otreppe S, Josse C, Dideberg V, Segers K, Guissard V, Capraro V, Debray FG, Bours V.

Sci Rep. 2017 Dec 15;7(1):17641. doi: 10.1038/s41598-017-18038-x.

4.

[PHARMACOGENOMICS AND PERSONALIZED MEDICINE: TOWARDS A SYSTEMATIC GENOMIC SCREENING?].

Dideberg V, Segers K, Koopmansch B, Lambert F, Bours V.

Rev Med Liege. 2015 May-Jun;70(5-6):251-6. French.

5.

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.

Debray FG, Stümpfig C, Vanlander AV, Dideberg V, Josse C, Caberg JH, Boemer F, Bours V, Stevens R, Seneca S, Smet J, Lill R, van Coster R.

J Inherit Metab Dis. 2015 Nov;38(6):1147-53. doi: 10.1007/s10545-015-9857-1. Epub 2015 May 14.

PMID:
25971455
6.

Modulating effect of COMT Val(158)Met polymorphism on interference resolution during a working memory task.

Jaspar M, Dideberg V, Bours V, Maquet P, Collette F.

Brain Cogn. 2015 Apr;95:7-18. doi: 10.1016/j.bandc.2015.01.013. Epub 2015 Feb 12.

7.

Influence of COMT Genotype on Antero-posterior Cortical Functional Connectivity Underlying Interference Resolution.

Jaspar M, Manard M, Dideberg V, Bours V, Maquet P, Collette F.

Cereb Cortex. 2016 Feb;26(2):498-509. doi: 10.1093/cercor/bhu188. Epub 2014 Sep 8.

8.

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies.

Uwineza A, Caberg JH, Hitayezu J, Hellin AC, Jamar M, Dideberg V, Rusingiza EK, Bours V, Mutesa L.

BMC Med Genet. 2014 Jul 12;15:79. doi: 10.1186/1471-2350-15-79.

9.

Genetic diagnosis of Duchenne and Becker muscular dystrophy using multiplex ligation-dependent probe amplification in Rwandan patients.

Uwineza A, Hitayezu J, Murorunkwere S, Ndinkabandi J, Kalala Malu CK, Caberg JH, Dideberg V, Bours V, Mutesa L.

J Trop Pediatr. 2014 Apr;60(2):112-7. doi: 10.1093/tropej/fmt090. Epub 2013 Nov 7.

PMID:
24213305
10.

Altered white matter architecture in BDNF met carriers.

Ziegler E, Foret A, Mascetti L, Muto V, Le Bourdiec-Shaffii A, Stender J, Balteau E, Dideberg V, Bours V, Maquet P, Phillips C.

PLoS One. 2013 Jul 31;8(7):e69290. doi: 10.1371/journal.pone.0069290. Print 2013.

11.

Modulating effect of COMT genotype on the brain regions underlying proactive control process during inhibition.

Jaspar M, Genon S, Muto V, Meyer C, Manard M, Dideberg V, Bours V, Salmon E, Maquet P, Collette F.

Cortex. 2014 Jan;50:148-61. doi: 10.1016/j.cortex.2013.06.003. Epub 2013 Jun 19.

12.

Concurrent synaptic and systems memory consolidation during sleep.

Mascetti L, Foret A, Schrouff J, Muto V, Dideberg V, Balteau E, Degueldre C, Phillips C, Luxen A, Collette F, Bours V, Maquet P.

J Neurosci. 2013 Jun 12;33(24):10182-90. doi: 10.1523/JNEUROSCI.0284-13.2013.

13.

Evidence of association between interferon regulatory factor 5 gene polymorphisms and asthma.

Wang C, Rose-Zerilli MJ, Koppelman GH, Sandling JK, Holloway JW, Postma DS, Holgate ST, Bours V, Syvänen AC, Dideberg V.

Gene. 2012 Aug 10;504(2):220-5. doi: 10.1016/j.gene.2012.05.021. Epub 2012 May 18.

PMID:
22613848
14.

Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.

Lopez-Herrera G, Tampella G, Pan-Hammarström Q, Herholz P, Trujillo-Vargas CM, Phadwal K, Simon AK, Moutschen M, Etzioni A, Mory A, Srugo I, Melamed D, Hultenby K, Liu C, Baronio M, Vitali M, Philippet P, Dideberg V, Aghamohammadi A, Rezaei N, Enright V, Du L, Salzer U, Eibel H, Pfeifer D, Veelken H, Stauss H, Lougaris V, Plebani A, Gertz EM, Schäffer AA, Hammarström L, Grimbacher B.

Am J Hum Genet. 2012 Jun 8;90(6):986-1001. doi: 10.1016/j.ajhg.2012.04.015. Epub 2012 May 17.

15.

IL28B polymorphism and the control of hepatitis C virus infection: ready for clinical use?

Orlent H, Reynaert H, Bourgeois S, Dideberg V, Adler M, Colle I, De Maeght S, Laleman W, Michielsen P, Moreno C, Mulkay JP, Stärkel P, Delwaide J; Belgian Association for the Study of the Liver.

Acta Gastroenterol Belg. 2011 Jun;74(2):317-22. Review.

16.

An insertion-deletion polymorphism in the interferon regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases.

Dideberg V, Kristjansdottir G, Milani L, Libioulle C, Sigurdsson S, Louis E, Wiman AC, Vermeire S, Rutgeerts P, Belaiche J, Franchimont D, Van Gossum A, Bours V, Syvänen AC.

Hum Mol Genet. 2007 Dec 15;16(24):3008-16. Epub 2007 Sep 19.

17.

The TNF/ADAM 17 system: implication of an ADAM 17 haplotype in the clinical response to infliximab in Crohn's disease.

Dideberg V, Théâtre E, Farnir F, Vermeire S, Rutgeerts P, De Vos M, Belaiche J, Franchimont D, Van Gossum A, Louis E, Bours V.

Pharmacogenet Genomics. 2006 Oct;16(10):727-34.

PMID:
17001292
18.

Lymphotoxin alpha gene in Crohn's disease patients: absence of implication in the response to infliximab in a large cohort study.

Dideberg V, Louis E, Farnir F, Bertoli S, Vermeire S, Rutgeerts P, De Vos M, Van Gossum A, Belaiche J, Bours V.

Pharmacogenet Genomics. 2006 May;16(5):369-73.

19.

[Integration of pharmacogenetics in the medical practice].

Dideberg V, Bours V.

Rev Med Liege. 2005 Dec;60(12):918-22. Review. French.

20.
21.

Major decrease in the incidence of trisomy 21 at birth in south Belgium: mass impact of triple test?

Verloes A, Gillerot Y, Van Maldergem L, Schoos R, Herens C, Jamar M, Dideberg V, Lesenfants S, Koulischer L.

Eur J Hum Genet. 2001 Jan;9(1):1-4.

22.

GOMBO syndrome: another "pseudorecessive" disorder due to a cryptic translocation.

Verloes A, Lesenfants S, Jamar M, Dideberg V, Herens C.

Am J Med Genet. 2000 Nov 13;95(2):185-6. No abstract available.

PMID:
11078574

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