Seneca S - Search Results

1

Clinical implementation of gene panel testing for lysosomal storage diseases.

Gheldof A, Seneca S, Stouffs K, Lissens W, Jansen A, Laeremans H, Verloo P, Schoonjans AS, Meuwissen M, Barca D, Martens G, De Meirleir L. Gheldof A, et al. Among authors: seneca s. Mol Genet Genomic Med. 2019 Feb;7(2):e00527. doi: 10.1002/mgg3.527. Epub 2018 Dec 11. Mol Genet Genomic Med. 2019. PMID: 30548430 Free PMC article.

2

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. Seneca S, et al. Eur J Hum Genet. 2015 Jan;23(1):41-8. doi: 10.1038/ejhg.2014.49. Epub 2014 Mar 26. Eur J Hum Genet. 2015. PMID: 24667782 Free PMC article.

3

Genetic causes of male infertility.

Stouffs K, Seneca S, Lissens W. Stouffs K, et al. Among authors: seneca s. Ann Endocrinol (Paris). 2014 May;75(2):109-11. doi: 10.1016/j.ando.2014.03.004. Epub 2014 Apr 24. Ann Endocrinol (Paris). 2014. PMID: 24768008 Review.

4

DNA diagnosis of X-linked adrenoleukodystrophy.

Seneca S, Lissens W. Seneca S, et al. J Inherit Metab Dis. 1995;18 Suppl 1:34-44. doi: 10.1007/BF00711427. J Inherit Metab Dis. 1995. PMID: 9053554 Review.

5

Diagnostic value of immunostaining in cultured skin fibroblasts from patients with oxidative phosphorylation defects.

de Paepe B, Smet J, Leroy JG, Seneca S, George E, Matthys D, van Maldergem L, Scalais E, Lissens W, de Meirleir L, Meulemans A, van Coster R. de Paepe B, et al. Among authors: seneca s. Pediatr Res. 2006 Jan;59(1):2-6. doi: 10.1203/01.pdr.0000191294.34122.ab. Epub 2005 Dec 2. Pediatr Res. 2006. PMID: 16327006

6

The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders.

Meulemans A, Gerlo E, Seneca S, Lissens W, Smet J, Van Coster R, De Meirleir L. Meulemans A, et al. Among authors: seneca s. Acta Neurol Belg. 2007 Sep;107(3):78-83. Acta Neurol Belg. 2007. PMID: 18072335

7

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. Vancampenhout K, et al. Among authors: seneca s. PLoS One. 2014 Nov 10;9(11):e112950. doi: 10.1371/journal.pone.0112950. eCollection 2014. PLoS One. 2014. PMID: 25383547 Free PMC article.

8

Sertoli Cell-Only Syndrome: Behind the Genetic Scenes.

Stouffs K, Gheldof A, Tournaye H, Vandermaelen D, Bonduelle M, Lissens W, Seneca S. Stouffs K, et al. Among authors: seneca s. Biomed Res Int. 2016;2016:6191307. doi: 10.1155/2016/6191307. Epub 2016 Jan 26. Biomed Res Int. 2016. PMID: 26925412 Free PMC article.

9

Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations.

Stouffs K, Moortgat S, Vanderhasselt T, Vandervore L, Dica A, Mathot M, Keymolen K, Seneca S, Gheldof A, De Meirleir L, Jansen AC. Stouffs K, et al. Among authors: seneca s. Eur J Med Genet. 2018 Dec;61(12):733-737. doi: 10.1016/j.ejmg.2018.06.001. Epub 2018 Jun 5. Eur J Med Genet. 2018. PMID: 29883675

10

Importance of sequence analysis in NARP syndrome.

Seneca S, De Meirleir L, Liebaers I, Lissens W. Seneca S, et al. J Inherit Metab Dis. 1995;18(1):97-8. doi: 10.1007/BF00711391. J Inherit Metab Dis. 1995. PMID: 7623460 No abstract available.

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