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Genome-wide methylation analysis in patients with proximal hypospadias - a pilot study and review of the literature.
van Bever Y, Boers RG, Brüggenwirth HT, van IJcken WF, Magielsen FJ, de Klein A, Boers JB, Looijenga LH, Brosens E, Gribnau J, Hannema SE. van Bever Y, et al. Among authors: bruggenwirth ht. Epigenetics. 2024 Dec;19(1):2392048. doi: 10.1080/15592294.2024.2392048. Epub 2024 Aug 16. Epigenetics. 2024. PMID: 39151125 Free PMC article. Review.
Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Patients Suspected of Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins.
Edel GG, Hol JA, Slot E, von der Thüsen JH, van Bever Y, de Jonge RCJ, van Tienhoven M, Brüggenwirth HT, de Klein A, Rottier RJ. Edel GG, et al. Among authors: bruggenwirth ht. Lab Invest. 2023 Nov;103(11):100233. doi: 10.1016/j.labinv.2023.100233. Epub 2023 Aug 9. Lab Invest. 2023. PMID: 37567389 Free article.
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
Cools M, Grijp C, Neirinck J, Tavernier SJ, Schelstraete P, Van De Velde J, Morbée L, De Baere E, Bonroy C, van Bever Y, Bruggenwirth H, Vermont C, Hannema SE, De Rijke Y, Abdulhadi-Atwan M, Zangen D, Verdin H, Haerynck F. Cools M, et al. Eur J Endocrinol. 2024 Jan 3;190(1):34-43. doi: 10.1093/ejendo/lvad174. Eur J Endocrinol. 2024. PMID: 38128121
Genotype versus phenotype in families with androgen insensitivity syndrome.
Boehmer AL, Brinkmann O, Brüggenwirth H, van Assendelft C, Otten BJ, Verleun-Mooijman MC, Niermeijer MF, Brunner HG, Rouwé CW, Waelkens JJ, Oostdijk W, Kleijer WJ, van der Kwast TH, de Vroede MA, Drop SL. Boehmer AL, et al. J Clin Endocrinol Metab. 2001 Sep;86(9):4151-60. doi: 10.1210/jcem.86.9.7825. J Clin Endocrinol Metab. 2001. PMID: 11549642 Free article.
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, … See abstract for full author list ➔ Redin C, et al. Among authors: bruggenwirth ht. Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14. Nat Genet. 2017. PMID: 27841880 Free PMC article.
85 results