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101 results

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Page 1
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Harms FL, Dingemans AJM, Hempel M, Pfundt R, Bierhals T, Casar C, Müller C, Niermeijer JF, Fischer J, Jahn A, Hübner C, Majore S, Agolini E, Novelli A, van der Smagt J, Ernst R, van Binsbergen E, Mancini GMS, van Slegtenhorst M, Barakat TS, Wakeling EL, Kamath A, Downie L, Pais L, White SM, de Vries BBA, Kutsche K. Harms FL, et al. Among authors: van der smagt j. Genet Med. 2023 Oct;25(10):100927. doi: 10.1016/j.gim.2023.100927. Epub 2023 Jul 6. Genet Med. 2023. PMID: 37422718
The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy.
Hoorntje ET, van Spaendonck-Zwarts KY, Te Rijdt WP, Boven L, Vink A, van der Smagt JJ, Asselbergs FW, van Wijngaarden J, Hennekam EA, Pinto YM, Lekanne Deprez RH, Barge-Schaapveld DQCM, Bootsma M, Regieli J, Hoedemaekers YM, Jongbloed JDH, van den Berg MP, van Tintelen JP. Hoorntje ET, et al. Among authors: van wijngaarden j, van spaendonck zwarts ky, van den berg mp, van der smagt jj, van tintelen jp. Eur J Heart Fail. 2018 Apr;20(4):803-806. doi: 10.1002/ejhf.1030. Epub 2017 Oct 23. Eur J Heart Fail. 2018. PMID: 29057560 Free PMC article. No abstract available.
Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.
van Tintelen JP, Entius MM, Bhuiyan ZA, Jongbloed R, Wiesfeld AC, Wilde AA, van der Smagt J, Boven LG, Mannens MM, van Langen IM, Hofstra RM, Otterspoor LC, Doevendans PA, Rodriguez LM, van Gelder IC, Hauer RN. van Tintelen JP, et al. Among authors: van der smagt j, van langen im, van gelder ic. Circulation. 2006 Apr 4;113(13):1650-8. doi: 10.1161/CIRCULATIONAHA.105.609719. Epub 2006 Mar 27. Circulation. 2006. PMID: 16567567
Large inv dup(15) chromosome in two generations.
Van Der Smagt JJ, Giltay JC, De Ne JJ, Slabbers GH. Van Der Smagt JJ, et al. J Med Genet. 1996 Mar;33(3):261-2. doi: 10.1136/jmg.33.3.261-a. J Med Genet. 1996. PMID: 8728709 Free PMC article. No abstract available.
Heritability in genetic heart disease: the role of genetic background.
Jansweijer JA, van Spaendonck-Zwarts KY, Tanck MWT, van Tintelen JP, Christiaans I, van der Smagt J, Vermeer A, Bos JM, Moss AJ, Swan H, Priori SG, Rydberg A, Tfelt-Hansen J, Ackerman MJ, Olivotto I, Charron P, Gimeno JR, van den Berg M, Wilde AAM, Pinto YM. Jansweijer JA, et al. Among authors: van den berg m, van der smagt j, van spaendonck zwarts ky, van tintelen jp. Open Heart. 2019 May 28;6(1):e000929. doi: 10.1136/openhrt-2018-000929. eCollection 2019. Open Heart. 2019. PMID: 31245010 Free PMC article.
Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.
Hoorntje ET, Bollen IA, Barge-Schaapveld DQ, van Tienen FH, Te Meerman GJ, Jansweijer JA, van Essen AJ, Volders PG, Constantinescu AA, van den Akker PC, van Spaendonck-Zwarts KY, Oldenburg RA, Marcelis CL, van der Smagt JJ, Hennekam EA, Vink A, Bootsma M, Aten E, Wilde AA, van den Wijngaard A, Broers JL, Jongbloed JD, van der Velden J, van den Berg MP, van Tintelen JP. Hoorntje ET, et al. Among authors: van essen aj, van spaendonck zwarts ky, van den berg mp, van den akker pc, van der smagt jj, van der velden j, van den wijngaard a, van tintelen jp, van tienen fh. Circ Cardiovasc Genet. 2017 Aug;10(4):e001631. doi: 10.1161/CIRCGENETICS.116.001631. Circ Cardiovasc Genet. 2017. PMID: 28790152
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
Spentchian M, Merrien Y, Herasse M, Dobbie Z, Gläser D, Holder SE, Ivarsson SA, Kostiner D, Mansour S, Norman A, Roth J, Stipoljev F, Taillemite JL, van der Smagt JJ, Serre JL, Simon-Bouy B, Taillandier A, Mornet E. Spentchian M, et al. Among authors: van der smagt jj. Hum Mutat. 2003 Jul;22(1):105-6. doi: 10.1002/humu.9159. Hum Mutat. 2003. PMID: 12815606
101 results