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Page 1
Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
Tsuiko O, El Ayeb Y, Jatsenko T, Allemeersch J, Melotte C, Ding J, Debrock S, Peeraer K, Vanhie A, De Leener A, Pirard C, Kluyskens C, Denayer E, Legius E, Vermeesch JR, Brems H, Dimitriadou E. Tsuiko O, et al. Among authors: de leener a. Hum Reprod. 2023 Mar 1;38(3):511-519. doi: 10.1093/humrep/deac273. Hum Reprod. 2023. PMID: 36625546
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Jacquemin V, Versbraegen N, Duerinckx S, Massart A, Soblet J, Perazzolo C, Deconinck N, Brischoux-Boucher E, De Leener A, Revencu N, Janssens S, Moorgat S, Blaumeiser B, Avela K, Touraine R, Abou Jaoude I, Keymolen K, Saugier-Veber P, Lenaerts T, Abramowicz M, Pirson I. Jacquemin V, et al. Among authors: de leener a. Hum Genomics. 2023 Mar 2;17(1):16. doi: 10.1186/s40246-023-00464-w. Hum Genomics. 2023. PMID: 36859317 Free PMC article.
Case Report: Aggressive neural crest tumors in a child with familial von Hippel Lindau syndrome associated with a germline VHL mutation (c.414A>G) and a novel KIF1B gene mutation.
Landen L, De Leener A, Le Roux M, Brichard B, Aydin S, Maiter D, Lysy PA. Landen L, et al. Among authors: de leener a. Front Endocrinol (Lausanne). 2023 Jul 25;14:1204793. doi: 10.3389/fendo.2023.1204793. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37564981 Free PMC article.
Haplotyping-based preimplantation genetic testing reveals parent-of-origin specific mechanisms of aneuploidy formation.
Tšuiko O, Vanneste M, Melotte C, Ding J, Debrock S, Masset H, Peters M, Salumets A, De Leener A, Pirard C, Kluyskens C, Hostens K, van de Vijver A, Peeraer K, Denayer E, Vermeesch JR, Dimitriadou E. Tšuiko O, et al. Among authors: de leener a. NPJ Genom Med. 2021 Oct 7;6(1):81. doi: 10.1038/s41525-021-00246-0. NPJ Genom Med. 2021. PMID: 34620870 Free PMC article.
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
van Riel M, Brison N, Baetens M, Blaumeiser B, Boemer F, Bourlard L, Bulk S, De Leener A, Désir J, Devriendt K, Dheedene A, Duquenne A, Fieremans N, Fieuw A, Gatot JS, Grisart B, Janssens S, Khudashvili N, Lannoo L, Marichal A, Meunier C, Palmeira L, Parijs I, Pichon B, Roets E, Sammels E, Smits G, Suenaert M, Sznajer Y, Van den Bogaert K, Vancoillie L, Vandeputte L, Vantroys E, Vermeesch JR, Janssens K. van Riel M, et al. Among authors: de leener a. Obstet Gynecol. 2021 Jun 1;137(6):1102-1108. doi: 10.1097/AOG.0000000000004385. Obstet Gynecol. 2021. PMID: 33957658 Free article.
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
Van Den Bogaert K, Lannoo L, Brison N, Gatinois V, Baetens M, Blaumeiser B, Boemer F, Bourlard L, Bours V, De Leener A, De Rademaeker M, Désir J, Dheedene A, Duquenne A, Fieremans N, Fieuw A, Gatot JS, Grisart B, Janssens K, Janssens S, Lederer D, Marichal A, Menten B, Meunier C, Palmeira L, Pichon B, Sammels E, Smits G, Sznajer Y, Vantroys E, Devriendt K, Vermeesch JR. Van Den Bogaert K, et al. Among authors: de leener a. Genet Med. 2021 Jun;23(6):1137-1142. doi: 10.1038/s41436-021-01101-4. Epub 2021 Feb 9. Genet Med. 2021. PMID: 33564150 Free article.
Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries.
Futema M, Ramaswami U, Tichy L, Bogsrud MP, Holven KB, Roeters van Lennep J, Wiegman A, Descamps OS, De Leener A, Fastre E, Vrablik M, Freiberger T, Esterbauer H, Dieplinger H, Greber-Platzer S, Medeiros AM, Bourbon M, Mollaki V, Drogari E, Humphries SE. Futema M, et al. Among authors: de leener a. Atherosclerosis. 2021 Feb;319:108-117. doi: 10.1016/j.atherosclerosis.2021.01.008. Epub 2021 Jan 13. Atherosclerosis. 2021. PMID: 33508743
Prenatally detected copy number variants in a national cohort: A postnatal follow-up study.
Muys J, Jacquemyn Y, Blaumeiser B, Bourlard L, Brison N, Bulk S, Chiarappa P, De Leener A, De Rademaeker M, Désir J, Destrée A, Devriendt K, Dheedene A, Duquenne A, Fieuw A, Fransen E, Gatot JS, Jamar M, Janssens S, Kerstjens J, Keymolen K, Lederer D, Menten B, Pichon B, Rombout S, Sznajer Y, Van Den Bogaert A, Van Den Bogaert K, Vermeesch J, Janssens K. Muys J, et al. Among authors: de leener a. Prenat Diagn. 2020 Sep;40(10):1272-1283. doi: 10.1002/pd.5751. Epub 2020 Jun 24. Prenat Diagn. 2020. PMID: 32436253
Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.
Van Marcke C, Helaers R, De Leener A, Merhi A, Schoonjans CA, Ambroise J, Galant C, Delrée P, Rothé F, Bar I, Khoury E, Brouillard P, Canon JL, Vuylsteke P, Machiels JP, Berlière M, Limaye N, Vikkula M, Duhoux FP. Van Marcke C, et al. Among authors: de leener a. Breast Cancer Res. 2020 Apr 15;22(1):36. doi: 10.1186/s13058-020-01273-y. Breast Cancer Res. 2020. PMID: 32295625 Free PMC article.
29 results