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An exome-wide study of renal operational tolerance.
Massart A, Danger R, Olsen C, Emond MJ, Viklicky O, Jacquemin V, Soblet J, Duerinckx S, Croes D, Perazzolo C, Hruba P, Daneels D, Caljon B, Sever MS, Pascual J, Miglinas M; Renal Tolerance Investigators; Pirson I, Ghisdal L, Smits G, Giral M, Abramowicz D, Abramowicz M, Brouard S. Massart A, et al. Among authors: pirson i. Front Med (Lausanne). 2023 May 17;9:976248. doi: 10.3389/fmed.2022.976248. eCollection 2022. Front Med (Lausanne). 2023. PMID: 37265662 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
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.
Correction: 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. 2020 Apr;28(4):532. doi: 10.1038/s41431-019-0491-5. Eur J Hum Genet. 2020. PMID: 31506600 Free PMC article.
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.
Duerinckx S, Jacquemin V, Drunat S, Vial Y, Passemard S, Perazzolo C, Massart A, Soblet J, Racapé J, Desmyter L, Badoer C, Papadimitriou S, Le Borgne YA, Lefort A, Libert F, De Maertelaer V, Rooman M, Costagliola S, Verloes A, Lenaerts T, Pirson I, Abramowicz M. Duerinckx S, et al. Among authors: pirson i. Hum Mutat. 2020 Feb;41(2):512-524. doi: 10.1002/humu.23948. Epub 2019 Nov 27. Hum Mutat. 2020. PMID: 31696992 Free PMC article.
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.
62 results