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Items: 1 to 20 of 111

1.

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients.

Dewulf JP, Barrea C, Vincent MF, De Laet C, Van Coster R, Seneca S, Marie S, Nassogne MC.

Mol Genet Metab. 2016 Jul;118(3):185-9. doi: 10.1016/j.ymgme.2016.05.005. Epub 2016 May 13.

PMID:
27233227
2.

Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.

de Filette J, Hasaerts D, Seneca S, Gheldof A, Stouffs K, Keymolen K, Velkeniers B.

Neurol Genet. 2016 Jan 7;2(1):e42. doi: 10.1212/NXG.0000000000000042. eCollection 2016 Feb.

3.

GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.

Kuschal C, Botta E, Orioli D, Digiovanna JJ, Seneca S, Keymolen K, Tamura D, Heller E, Khan SG, Caligiuri G, Lanzafame M, Nardo T, Ricotti R, Peverali FA, Stephens R, Zhao Y, Lehmann AR, Baranello L, Levens D, Kraemer KH, Stefanini M.

Am J Hum Genet. 2016 Apr 7;98(4):627-42. doi: 10.1016/j.ajhg.2016.02.008. Epub 2016 Mar 17.

PMID:
26996949
4.

Sertoli Cell-Only Syndrome: Behind the Genetic Scenes.

Stouffs K, Gheldof A, Tournaye H, Vandermaelen D, Bonduelle M, Lissens W, Seneca S.

Biomed Res Int. 2016;2016:6191307. doi: 10.1155/2016/6191307. Epub 2016 Jan 26.

5.

Megaconial muscular dystrophy caused by mitochondrial membrane homeostasis defect, new insights from skeletal and heart muscle analyses.

Vanlander AV, Muiño Mosquera L, Panzer J, Deconinck T, Smet J, Seneca S, Van Dorpe J, Ferdinande L, Ceuterick-de Groote C, De Jonghe P, Van Coster R, Baets J.

Mitochondrion. 2016 Mar;27:32-8. doi: 10.1016/j.mito.2016.02.001. Epub 2016 Feb 23.

PMID:
26855408
6.

Ionic strength dependent vesicle adsorption and phase behavior of anionic phospholipids on a gold substrate.

Pramanik SK, Seneca S, Ethirajan A, Neupane S, Renner FU, Losada-Pérez P.

Biointerphases. 2016 Mar 8;11(1):019006. doi: 10.1116/1.4939596.

PMID:
26746165
7.

Ovarian hyperstimulation syndrome after gonadotropin-releasing hormone agonist triggering and "freeze-all": in-depth analysis of genetic predisposition.

Santos-Ribeiro S, Polyzos NP, Stouffs K, De Vos M, Seneca S, Tournaye H, Blockeel C.

J Assist Reprod Genet. 2015 Jul;32(7):1063-8. doi: 10.1007/s10815-015-0498-y. Epub 2015 May 17.

PMID:
25982422
8.

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
9.

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB.

Front Genet. 2015 Apr 13;6:123. doi: 10.3389/fgene.2015.00123. eCollection 2015.

10.

Alteration of structure and function of ATP synthase and cytochrome c oxidase by lack of Fo-a and Cox3 subunits caused by mitochondrial DNA 9205delTA mutation.

Hejzlarová K, Kaplanová V, Nůsková H, Kovářová N, Ješina P, Drahota Z, Mráček T, Seneca S, Houštěk J.

Biochem J. 2015 Mar 15;466(3):601-11. doi: 10.1042/BJ20141462.

PMID:
25588698
11.

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
12.

A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome.

Vancampenhout K, Caljon B, Spits C, Stouffs K, Jonckheere A, De Meirleir L, Lissens W, Vanlander A, Smet J, De Paepe B, Van Coster R, Seneca S.

PLoS One. 2014 Nov 10;9(11):e112950. doi: 10.1371/journal.pone.0112950. eCollection 2014.

13.

Differential proteomic profiling unveils new molecular mechanisms associated with mitochondrial complex III deficiency.

Marín-Buera L, García-Bartolomé A, Morán M, López-Bernardo E, Cadenas S, Hidalgo B, Sánchez R, Seneca S, Arenas J, Martín MA, Ugalde C.

J Proteomics. 2015 Jan 15;113:38-56. doi: 10.1016/j.jprot.2014.09.007. Epub 2014 Sep 18.

14.

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
15.

Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions.

De Praeter C, Vanlander A, Vanhaesebrouck P, Smet J, Seneca S, De Sutter P, Van Coster R.

Eur J Pediatr. 2015 Feb;174(2):267-70. doi: 10.1007/s00431-014-2370-y. Epub 2014 Jul 10.

PMID:
25009317
16.

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.

Debray FG, Seneca S, Gonce M, Vancampenhaut K, Bianchi E, Boemer F, Weekers L, Smet J, Van Coster R.

Mitochondrion. 2014 Jul;17:101-5. doi: 10.1016/j.mito.2014.06.003. Epub 2014 Jun 20.

PMID:
24956508
17.

Genetic causes of male infertility.

Stouffs K, Seneca S, Lissens W.

Ann Endocrinol (Paris). 2014 May;75(2):109-11. doi: 10.1016/j.ando.2014.03.004. Epub 2014 Apr 24. Review.

PMID:
24768008
18.

Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?

Seneca S, Vancampenhout K, Van Coster R, Smet J, Lissens W, Vanlander A, De Paepe B, Jonckheere A, Stouffs K, De Meirleir L.

Eur J Hum Genet. 2015 Jan;23(1):41-8. doi: 10.1038/ejhg.2014.49. Epub 2014 Mar 26.

19.

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2).

Scalais E, Chafai R, Van Coster R, Bindl L, Nuttin C, Panagiotaraki C, Seneca S, Lissens W, Ribes A, Geers C, Smet J, De Meirleir L.

Eur J Paediatr Neurol. 2013 Nov;17(6):625-30. doi: 10.1016/j.ejpn.2013.05.013. Epub 2013 Jun 28.

PMID:
23816342
20.

Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency.

Buján N, Arias A, Montero R, García-Villoria J, Lissens W, Seneca S, Espinós C, Navas P, De Meirleir L, Artuch R, Briones P, Ribes A.

J Inherit Metab Dis. 2014 Jan;37(1):53-62. doi: 10.1007/s10545-013-9620-4. Epub 2013 Jun 18.

PMID:
23774949
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