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Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Vanbelleghem E, Van Damme T, Beyens A, Symoens S, Claes K, De Backer J, Meerschaut I, Vanommeslaeghe F, Delanghe SE, van den Ende J, Beyltjens T, Scimone ER, Lindsay ME, Schimmenti LA, Hinze AM, Dunn E, Gomez-Ospina N, Vandernoot I, Delguste T, Coppens S, Cormier-Daire V, Tartaglia M, Garavelli L, Shieh J, Demir Ş, Arslan Ateş E, Zenker M, Rohanizadegan M, Rivera-Cruz G, Douzgou S; Myhre Syndrome Foundation; Lin AE, Callewaert B. Vanbelleghem E, et al. Among authors: van den ende j. Eur J Hum Genet. 2024 Sep 10. doi: 10.1038/s41431-024-01690-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39256535 No abstract available.
Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations.
Vanbelleghem E, Van Damme T, Beyens A, Symoens S, Claes K, De Backer J, Meerschaut I, Vanommeslaeghe F, Delanghe SE, van den Ende J, Beyltjens T, Scimone ER, Lindsay ME, Schimmenti LA, Hinze AM, Dunn E, Gomez-Ospina N, Vandernoot I, Delguste T, Coppens S, Cormier-Daire V, Tartaglia M, Garavelli L, Shieh J, Demir Ş, Arslan Ateş E, Zenker M, Rohanizadegan M, Rivera-Cruz G, Douzgou S; Myhre Syndrome Foundation; Lin AE, Callewaert B. Vanbelleghem E, et al. Among authors: van den ende j. Eur J Hum Genet. 2024 Sep;32(9):1086-1094. doi: 10.1038/s41431-024-01664-1. Epub 2024 Jul 12. Eur J Hum Genet. 2024. PMID: 38997468
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.
Van de Sompele S, Small KW, Cicekdal MB, Soriano VL, D'haene E, Shaya FS, Agemy S, Van der Snickt T, Rey AD, Rosseel T, Van Heetvelde M, Vergult S, Balikova I, Bergen AA, Boon CJF, De Zaeytijd J, Inglehearn CF, Kousal B, Leroy BP, Rivolta C, Vaclavik V, van den Ende J, van Schooneveld MJ, Gómez-Skarmeta JL, Tena JJ, Martinez-Morales JR, Liskova P, Vleminckx K, De Baere E. Van de Sompele S, et al. Among authors: van den ende j. Am J Hum Genet. 2022 Nov 3;109(11):2029-2048. doi: 10.1016/j.ajhg.2022.09.013. Epub 2022 Oct 14. Am J Hum Genet. 2022. PMID: 36243009 Free PMC article.
Patients carrying the mutation p.R406W in MAPT present with non-conforming phenotypic spectrum.
Gossye H, Van Mossevelde S, Sieben A, Bjerke M, Hendrickx Van de Craen E, van der Zee J, De Deyn PP, De Bleecker J, Versijpt J, van den Ende J, Deryck O, Bourgeois P, Bier JC, Goethals M, Vandenberghe R, Engelborghs S, Van Broeckhoven C. Gossye H, et al. Among authors: van den ende j. Brain. 2023 Apr 19;146(4):1624-1636. doi: 10.1093/brain/awac362. Brain. 2023. PMID: 36171642 Free PMC article.
Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.
Wieme G, Kral J, Rosseel T, Zemankova P, Parton B, Vocka M, Van Heetvelde M, Kleiblova P, Blaumeiser B, Soukupova J, van den Ende J, Nehasil P, Tejpar S, Borecka M, Gómez García EB, Blok MJ, Safarikova M, Kalousova M, Geboes K, De Putter R, Poppe B, De Leeneer K, Kleibl Z, Janatova M, Claes KBM. Wieme G, et al. Among authors: van den ende j. Cancers (Basel). 2021 Sep 2;13(17):4430. doi: 10.3390/cancers13174430. Cancers (Basel). 2021. PMID: 34503238 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: van den ende j. 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.
260 results