De Meirleir L - 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: de meirleir l. 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. Among authors: de meirleir l, de paepe b. 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

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: de meirleir l, de paepe b. PLoS One. 2014 Nov 10;9(11):e112950. doi: 10.1371/journal.pone.0112950. eCollection 2014. PLoS One. 2014. PMID: 25383547 Free PMC article.

4

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: de meirleir l. 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

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: de meirleir l. 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: de meirleir l. Acta Neurol Belg. 2007 Sep;107(3):78-83. Acta Neurol Belg. 2007. PMID: 18072335

7

Importance of sequence analysis in NARP syndrome.

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

8

Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.

De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R. De Meirleir L, et al. Among authors: de clercq i. J Med Genet. 2004 Feb;41(2):120-4. doi: 10.1136/jmg.2003.012047. J Med Genet. 2004. PMID: 14757859 Free PMC article.

9

Pearson marrow pancreas syndrome: a molecular study and clinical management.

Seneca S, De Meirleir L, De Schepper J, Balduck N, Jochmans K, Liebaers I, Lissens W. Seneca S, et al. Among authors: de meirleir l, de schepper j. Clin Genet. 1997 May;51(5):338-42. doi: 10.1111/j.1399-0004.1997.tb02484.x. Clin Genet. 1997. PMID: 9212183

10

TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria.

Jansen AC, Oostra A, Desprechins B, De Vlaeminck Y, Verhelst H, Régal L, Verloo P, Bockaert N, Keymolen K, Seneca S, De Meirleir L, Lissens W. Jansen AC, et al. Among authors: de meirleir l, de vlaeminck y. Neurology. 2011 Mar 15;76(11):988-92. doi: 10.1212/WNL.0b013e31821043f5. Neurology. 2011. PMID: 21403111

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