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Items: 20

1.

The mutational landscape of MYCN, Lin28b and ALKF1174L driven murine neuroblastoma mimics human disease.

De Wilde B, Beckers A, Lindner S, Kristina A, De Preter K, Depuydt P, Mestdagh P, Sante T, Lefever S, Hertwig F, Peng Z, Shi LM, Lee S, Vandermarliere E, Martens L, Menten B, Schramm A, Fischer M, Schulte J, Vandesompele J, Speleman F.

Oncotarget. 2017 Dec 22;9(9):8334-8349. doi: 10.18632/oncotarget.23614. eCollection 2018 Feb 2.

2.

Shallow Whole Genome Sequencing on Circulating Cell-Free DNA Allows Reliable Noninvasive Copy-Number Profiling in Neuroblastoma Patients.

Van Roy N, Van Der Linden M, Menten B, Dheedene A, Vandeputte C, Van Dorpe J, Laureys G, Renard M, Sante T, Lammens T, De Wilde B, Speleman F, De Preter K.

Clin Cancer Res. 2017 Oct 15;23(20):6305-6314. doi: 10.1158/1078-0432.CCR-17-0675. Epub 2017 Jul 14.

PMID:
28710315
3.

arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.

Van Cauwenbergh C, Van Schil K, Cannoodt R, Bauwens M, Van Laethem T, De Jaegere S, Steyaert W, Sante T, Menten B, Leroy BP, Coppieters F, De Baere E.

Genet Med. 2017 Apr;19(4):457-466. doi: 10.1038/gim.2016.119. Epub 2016 Sep 8.

4.

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory.

Dheedene A, Sante T, De Smet M, Vanbellinghen JF, Grisart B, Vergult S, Janssens S, Menten B.

Prenat Diagn. 2016 Aug;36(8):699-707. doi: 10.1002/pd.4841. Epub 2016 Jul 1.

5.

Shallow whole genome sequencing is well suited for the detection of chromosomal aberrations in human blastocysts.

Deleye L, Dheedene A, De Coninck D, Sante T, Christodoulou C, Heindryckx B, Van den Abbeel E, De Sutter P, Deforce D, Menten B, Van Nieuwerburgh F.

Fertil Steril. 2015 Nov;104(5):1276-85.e1. doi: 10.1016/j.fertnstert.2015.07.1144. Epub 2015 Aug 14.

PMID:
26282994
6.

Whole genome amplification with SurePlex results in better copy number alteration detection using sequencing data compared to the MALBAC method.

Deleye L, De Coninck D, Christodoulou C, Sante T, Dheedene A, Heindryckx B, Van den Abbeel E, De Sutter P, Menten B, Deforce D, Van Nieuwerburgh F.

Sci Rep. 2015 Jun 30;5:11711. doi: 10.1038/srep11711.

7.

ViVar: a comprehensive platform for the analysis and visualization of structural genomic variation.

Sante T, Vergult S, Volders PJ, Kloosterman WP, Trooskens G, De Preter K, Dheedene A, Speleman F, De Meyer T, Menten B.

PLoS One. 2014 Dec 12;9(12):e113800. doi: 10.1371/journal.pone.0113800. eCollection 2014.

8.

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.

Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H.

Am J Hum Genet. 2014 Dec 4;95(6):708-20. doi: 10.1016/j.ajhg.2014.10.017. Epub 2014 Nov 26.

9.

Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).

Vanlander AV, Menten B, Smet J, De Meirleir L, Sante T, De Paepe B, Seneca S, Pearce SF, Powell CA, Vergult S, Michotte A, De Latter E, Vantomme L, Minczuk M, Van Coster R.

Hum Mutat. 2015 Feb;36(2):222-31. doi: 10.1002/humu.22728.

PMID:
25385316
10.

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.

Coppieters F, Van Schil K, Bauwens M, Verdin H, De Jaegher A, Syx D, Sante T, Lefever S, Abdelmoula NB, Depasse F, Casteels I, de Ravel T, Meire F, Leroy BP, De Baere E.

Genet Med. 2014 Sep;16(9):671-80. doi: 10.1038/gim.2014.24. Epub 2014 Mar 13.

PMID:
24625443
11.

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.

12.

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.

Verdin H, D'haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E.

PLoS Genet. 2013;9(3):e1003358. doi: 10.1371/journal.pgen.1003358. Epub 2013 Mar 14.

13.

Focal DNA copy number changes in neuroblastoma target MYCN regulated genes.

Kumps C, Fieuw A, Mestdagh P, Menten B, Lefever S, Pattyn F, De Brouwer S, Sante T, Schulte JH, Schramm A, Van Roy N, Van Maerken T, Noguera R, Combaret V, Devalck C, Westermann F, Laureys G, Eggert A, Vandesompele J, De Preter K, Speleman F.

PLoS One. 2013;8(1):e52321. doi: 10.1371/journal.pone.0052321. Epub 2013 Jan 4.

14.

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.

Vergult S, Hoogeboom AJ, Bijlsma EK, Sante T, Klopocki E, De Wilde B, Jongmans M, Thiel C, Verheij JB, Perez-Aytes A, Van Esch H, Kuechler A, Barge-Schaapveld DQ, Sznajer Y, Mortier G, Menten B.

Genet Med. 2013 Mar;15(3):195-202. doi: 10.1038/gim.2012.120. Epub 2012 Sep 20.

PMID:
22995989
15.

Continuous local intrahippocampal delivery of adenosine reduces seizure frequency in rats with spontaneous seizures.

Van Dycke A, Raedt R, Dauwe I, Sante T, Wyckhuys T, Meurs A, Vonck K, Wadman W, Boon P.

Epilepsia. 2010 Sep;51(9):1721-8. doi: 10.1111/j.1528-1167.2010.02700.x. Epub 2010 Aug 17.

16.

[A vaginally delivered dicephalus: an obstetrical, pediatric and anatomical report].

Pennings AA, Brackel CH, Verhofstad AA, van Sante TJ.

Ned Tijdschr Geneeskd. 1982 Sep 4;126(36):1636-42. Dutch. No abstract available.

PMID:
7133206
17.

Partial colpocleisis by a modification of LeFort's operation.

Ubachs JM, van Sante TJ, Schellekens LA.

Obstet Gynecol. 1973 Sep;42(3):415-20. No abstract available.

PMID:
4579576
18.

[Enucleation of myomas during pregnancy].

van Sante TJ.

Ned Tijdschr Verloskd Gynaecol. 1965 Aug;65(4):265-8. Dutch. No abstract available.

PMID:
5889820
19.

[Multiple arterial emboli as the cause of death of a woman 36 weeks pregnant].

van SANTE T.

Ned Tijdschr Geneeskd. 1962 Jul 28;106:1544-7. Dutch. No abstract available.

PMID:
14497030
20.

[An unusual form of incomplete rupture of the uterus].

van SANTE TJ.

Ned Tijdschr Verloskd Gynaecol. 1950;50(6):315-20. Undetermined Language. No abstract available.

PMID:
14827019

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