Del-Favero J - Search Results

1

Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population.

Nuytemans K, Meeus B, Crosiers D, Brouwers N, Goossens D, Engelborghs S, Pals P, Pickut B, Van den Broeck M, Corsmit E, Cras P, De Deyn PP, Del-Favero J, Van Broeckhoven C, Theuns J. Nuytemans K, et al. Hum Mutat. 2009 Jul;30(7):1054-61. doi: 10.1002/humu.21007. Hum Mutat. 2009. PMID: 19405094

2

Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample.

Rademakers R, Cruts M, Sleegers K, Dermaut B, Theuns J, Aulchenko Y, Weckx S, De Pooter T, Van den Broeck M, Corsmit E, De Rijk P, Del-Favero J, van Swieten J, van Duijn CM, Van Broeckhoven C. Rademakers R, et al. Am J Hum Genet. 2005 Oct;77(4):643-52. doi: 10.1086/491749. Epub 2005 Aug 30. Am J Hum Genet. 2005. PMID: 16175510 Free PMC article.

3

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.

Rademakers R, Melquist S, Cruts M, Theuns J, Del-Favero J, Poorkaj P, Baker M, Sleegers K, Crook R, De Pooter T, Bel Kacem S, Adamson J, Van den Bossche D, Van den Broeck M, Gass J, Corsmit E, De Rijk P, Thomas N, Engelborghs S, Heckman M, Litvan I, Crook J, De Deyn PP, Dickson D, Schellenberg GD, Van Broeckhoven C, Hutton ML. Rademakers R, et al. Hum Mol Genet. 2005 Nov 1;14(21):3281-92. doi: 10.1093/hmg/ddi361. Epub 2005 Sep 29. Hum Mol Genet. 2005. PMID: 16195395

4

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. Suls A, et al. Hum Mutat. 2006 Sep;27(9):914-20. doi: 10.1002/humu.20350. Hum Mutat. 2006. PMID: 16865694

5

Major affective disorders and schizophrenia: a common molecular signature?

Van Den Bogaert A, Del-Favero J, Van Broeckhoven C. Van Den Bogaert A, et al. Hum Mutat. 2006 Sep;27(9):833-53. doi: 10.1002/humu.20369. Hum Mutat. 2006. PMID: 16917879 Review.

6

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy.

Sleegers K, Brouwers N, Gijselinck I, Theuns J, Goossens D, Wauters J, Del-Favero J, Cruts M, van Duijn CM, Van Broeckhoven C. Sleegers K, et al. Brain. 2006 Nov;129(Pt 11):2977-83. doi: 10.1093/brain/awl203. Epub 2006 Aug 18. Brain. 2006. PMID: 16921174

7

A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder.

Bogaerts V, Engelborghs S, Kumar-Singh S, Goossens D, Pickut B, van der Zee J, Sleegers K, Peeters K, Martin JJ, Del-Favero J, Gasser T, Dickson DW, Wszolek ZK, De Deyn PP, Theuns J, Van Broeckhoven C. Bogaerts V, et al. Brain. 2007 Sep;130(Pt 9):2277-91. doi: 10.1093/brain/awm167. Epub 2007 Aug 6. Brain. 2007. PMID: 17681982

8

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS.

Gijselinck I, Sleegers K, Engelborghs S, Robberecht W, Martin JJ, Vandenberghe R, Sciot R, Dermaut B, Goossens D, van der Zee J, De Pooter T, Del-Favero J, Santens P, De Jonghe P, De Deyn PP, Van Broeckhoven C, Cruts M. Gijselinck I, et al. Neurobiol Aging. 2009 Aug;30(8):1329-31. doi: 10.1016/j.neurobiolaging.2007.11.002. Epub 2008 Jan 10. Neurobiol Aging. 2009. PMID: 18068872

9

Simultaneous mutation and copy number variation (CNV) detection by multiplex PCR-based GS-FLX sequencing.

Goossens D, Moens LN, Nelis E, Lenaerts AS, Glassee W, Kalbe A, Frey B, Kopal G, De Jonghe P, De Rijk P, Del-Favero J. Goossens D, et al. Hum Mutat. 2009 Mar;30(3):472-6. doi: 10.1002/humu.20873. Hum Mutat. 2009. PMID: 19058222

10

Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia.

Theuns J, Crosiers D, Debaene L, Nuytemans K, Meeus B, Sleegers K, Goossens D, Corsmit E, Elinck E, Peeters K, Mattheijssens M, Pickut B, Del-Favero J, Engelborghs S, De Deyn PP, Cras P, Van Broeckhoven C. Theuns J, et al. Mov Disord. 2012 Sep 15;27(11):1451-6. doi: 10.1002/mds.25147. Epub 2012 Sep 13. Mov Disord. 2012. PMID: 22976901

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