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Page 1
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: desmyter l. 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.
Prevalence and clinical impact of tumor BRCA1 and BRCA2 mutations in patients presenting with localized or metastatic hormone-sensitive prostate cancer.
Martinez Chanza N, Bernard B, Barthelemy P, Accarain A, Paesmans M, Desmyter L, T'Kint de Roodenbeke D, Gil T, Sideris S, Roumeguere T, Hamid AA, Sweeney CJ. Martinez Chanza N, et al. Among authors: desmyter l. Prostate Cancer Prostatic Dis. 2022 Feb;25(2):199-207. doi: 10.1038/s41391-021-00397-2. Epub 2021 Jun 9. Prostate Cancer Prostatic Dis. 2022. PMID: 34108647
FAF1, a gene that is disrupted in cleft palate and has conserved function in zebrafish.
Ghassibe-Sabbagh M, Desmyter L, Langenberg T, Claes F, Boute O, Bayet B, Pellerin P, Hermans K, Backx L, Mansilla MA, Imoehl S, Nowak S, Ludwig KU, Baluardo C, Ferrian M, Mossey PA, Noethen M, Dewerchin M, François G, Revencu N, Vanwijck R, Hecht J, Mangold E, Murray J, Rubini M, Vermeesch JR, Poirel HA, Carmeliet P, Vikkula M. Ghassibe-Sabbagh M, et al. Among authors: desmyter l. Am J Hum Genet. 2011 Feb 11;88(2):150-61. doi: 10.1016/j.ajhg.2011.01.003. Epub 2011 Feb 3. Am J Hum Genet. 2011. PMID: 21295280 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: desmyter l. 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.
24 results