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Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Duerinckx S, Désir J, Perazzolo C, Badoer C, Jacquemin V, Soblet J, Maystadt I, Tunca Y, Blaumeiser B, Ceulemans B, Courtens W, Debray FG, Destree A, Devriendt K, Jansen A, Keymolen K, Lederer D, Loeys B, Meuwissen M, Moortgat S, Mortier G, Nassogne MC, Sekhara T, Van Coster R, Van Den Ende J, Van der Aa N, Van Esch H, Vanakker O, Verhelst H, Vilain C, Weckhuysen S, Passemard S, Verloes A, Aeby A, Deconinck N, Van Bogaert P, Pirson I, Abramowicz M. Duerinckx S, et al. Among authors: pirson i. Mol Genet Genomic Med. 2021 Sep;9(9):e1768. doi: 10.1002/mgg3.1768. Epub 2021 Aug 17. Mol Genet Genomic Med. 2021. PMID: 34402213 Free PMC article.
Iodotyrosine deiodinase defect identified via genome-wide approach.
Burniat A, Pirson I, Vilain C, Kulik W, Afink G, Moreno-Reyes R, Corvilain B, Abramowicz M. Burniat A, et al. Among authors: pirson i. J Clin Endocrinol Metab. 2012 Jul;97(7):E1276-83. doi: 10.1210/jc.2011-3314. Epub 2012 Apr 24. J Clin Endocrinol Metab. 2012. PMID: 22535972
Kinetochore KMN network gene CASC5 mutated in primary microcephaly.
Genin A, Desir J, Lambert N, Biervliet M, Van Der Aa N, Pierquin G, Killian A, Tosi M, Urbina M, Lefort A, Libert F, Pirson I, Abramowicz M. Genin A, et al. Among authors: pirson i. Hum Mol Genet. 2012 Dec 15;21(24):5306-17. doi: 10.1093/hmg/dds386. Epub 2012 Sep 13. Hum Mol Genet. 2012. PMID: 22983954
tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.
Igoillo-Esteve M, Genin A, Lambert N, Désir J, Pirson I, Abdulkarim B, Simonis N, Drielsma A, Marselli L, Marchetti P, Vanderhaeghen P, Eizirik DL, Wuyts W, Julier C, Chakera AJ, Ellard S, Hattersley AT, Abramowicz M, Cnop M. Igoillo-Esteve M, et al. Among authors: pirson i. PLoS Genet. 2013 Oct;9(10):e1003888. doi: 10.1371/journal.pgen.1003888. Epub 2013 Oct 31. PLoS Genet. 2013. PMID: 24204302 Free PMC article.
Severe congenital microcephaly with AP4M1 mutation, a case report.
Duerinckx S, Verhelst H, Perazzolo C, David P, Desmyter L, Pirson I, Abramowicz M. Duerinckx S, et al. Among authors: pirson i. BMC Med Genet. 2017 May 2;18(1):48. doi: 10.1186/s12881-017-0412-9. BMC Med Genet. 2017. PMID: 28464862 Free PMC article.
Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.
Polla DL, Rahikkala E, Bode MK, Määttä T, Varilo T, Loman T, Philips AK, Kurki M, Palotie A, Körkkö J, Vieira P, Avela K, Jacquemin V, Pirson I, Abramowicz M, de Brouwer APM, Kuismin O, van Bokhoven H, Järvelä I. Polla DL, et al. Among authors: pirson i. Eur J Hum Genet. 2019 Aug;27(8):1235-1243. doi: 10.1038/s41431-019-0383-8. Epub 2019 Mar 26. Eur J Hum Genet. 2019. PMID: 30914828 Free PMC article.
62 results