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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Grozeva D, Carss K, Spasic-Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S; Italian X-linked Mental Retardation Project; UK10K Consortium; GOLD Consortium; Hurles M, Raymond FL. Grozeva D, et al. Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30. Hum Mutat. 2015. PMID: 26350204 Free PMC article.
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants.
Jansen M, Schuldt M, van Driel BO, Schmidt AF, Christiaans I, van der Crabben SN, Hoedemaekers YM, Dooijes D, Jongbloed JDH, Boven LG, Deprez RHL, Wilde AAM, Jans JJM, van der Velden J, de Boer RA, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Among authors: dooijes d. Int J Mol Sci. 2023 Feb 17;24(4):4031. doi: 10.3390/ijms24044031. Int J Mol Sci. 2023. PMID: 36835444 Free PMC article.
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
Lopez-Sainz A, Dominguez F, Lopes LR, Ochoa JP, Barriales-Villa R, Climent V, Linschoten M, Tiron C, Chiriatti C, Marques N, Rasmussen TB, Espinosa MÁ, Beinart R, Quarta G, Cesar S, Field E, Garcia-Pinilla JM, Bilinska Z, Muir AR, Roberts AM, Santas E, Zorio E, Peña-Peña ML, Navarro M, Fernandez A, Palomino-Doza J, Azevedo O, Lorenzini M, García-Álvarez MI, Bento D, Jensen MK, Méndez I, Pezzoli L, Sarquella-Brugada G, Campuzano O, Gonzalez-Lopez E, Mogensen J, Kaski JP, Arad M, Brugada R, Asselbergs FW, Monserrat L, Olivotto I, Elliott PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators. Lopez-Sainz A, et al. J Am Coll Cardiol. 2020 Jul 14;76(2):186-197. doi: 10.1016/j.jacc.2020.05.029. J Am Coll Cardiol. 2020. PMID: 32646569 Free article.
Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study.
Jansen M, de Brouwer R, Hassanzada F, Schoemaker AE, Schmidt AF, Kooijman-Reumerman MD, Bracun V, Slieker MG, Dooijes D, Vermeer AMC, Wilde AAM, Amin AS, Lekanne Deprez RH, Herkert JC, Christiaans I, de Boer RA, Jongbloed JDH, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Among authors: dooijes d. JACC Heart Fail. 2024 Jan;12(1):134-147. doi: 10.1016/j.jchf.2023.07.007. Epub 2023 Aug 9. JACC Heart Fail. 2024. PMID: 37565978
Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers.
Jansen M, Schmidt AF, Jans JJM, Christiaans I, van der Crabben SN, Hoedemaekers YM, Dooijes D, Jongbloed JDH, Boven LG, Lekanne Deprez RH, Wilde AAM, van der Velden J, de Boer RA, van Tintelen JP, Asselbergs FW, Baas AF. Jansen M, et al. Among authors: dooijes d. J Cardiovasc Transl Res. 2023 Dec;16(6):1267-1275. doi: 10.1007/s12265-023-10398-2. Epub 2023 Jun 6. J Cardiovasc Transl Res. 2023. PMID: 37278928 Free PMC article.
A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation.
Wong HY, Hoogerbrugge JW, Pang KL, van Leeuwen M, van Royen ME, Molier M, Berrevoets CA, Dooijes D, Dubbink HJ, van de Wijngaart DJ, Wolffenbuttel KP, Trapman J, Kleijer WJ, Drop SL, Grootegoed JA, Brinkmann AO. Wong HY, et al. Among authors: dooijes d. Mol Cell Endocrinol. 2008 Sep 24;292(1-2):69-78. doi: 10.1016/j.mce.2008.06.016. Epub 2008 Jul 5. Mol Cell Endocrinol. 2008. PMID: 18656523
Hyperechogenic fetal bowel: counseling difficulties.
Marcus-Soekarman D, Offermans J, Van den Ouweland AM, Mulder AL, Muntjewerff N, Vossen M, Kleijer W, Schrander-Stumpel C, Dooijes D. Marcus-Soekarman D, et al. Among authors: dooijes d. Eur J Med Genet. 2005 Oct-Dec;48(4):421-5. doi: 10.1016/j.ejmg.2005.05.001. Eur J Med Genet. 2005. PMID: 16378926
133 results