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Page 1
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
Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
Bergman JE, Veenstra-Knol HE, van Essen AJ, van Ravenswaaij CM, den Dunnen WF, van den Wijngaard A, van Tintelen JP. Bergman JE, et al. Among authors: van essen aj, van ravenswaaij cm, van den wijngaard a, van tintelen jp. Eur J Med Genet. 2007 Sep-Oct;50(5):355-66. doi: 10.1016/j.ejmg.2007.06.003. Epub 2007 Jul 15. Eur J Med Genet. 2007. PMID: 17720647
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, Jonkman MF. van den Akker PC, et al. Among authors: van essen aj. J Dermatol Sci. 2009 Oct;56(1):9-18. doi: 10.1016/j.jdermsci.2009.06.015. Epub 2009 Aug 8. J Dermatol Sci. 2009. PMID: 19665875
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
van den Akker PC, Mellerio JE, Martinez AE, Liu L, Meijer R, Dopping-Hepenstal PJ, van Essen AJ, Scheffer H, Hofstra RM, McGrath JA, Jonkman MF. van den Akker PC, et al. Among authors: van essen aj. J Med Genet. 2011 Mar;48(3):160-7. doi: 10.1136/jmg.2010.082230. Epub 2010 Nov 26. J Med Genet. 2011. PMID: 21113014
Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy.
Hoogerwaard EM, van der Wouw PA, Wilde AA, Bakker E, Ippel PF, Oosterwijk JC, Majoor-Krakauer DF, van Essen AJ, Leschot NJ, de Visser M. Hoogerwaard EM, et al. Among authors: van essen aj, van der wouw pa. Neuromuscul Disord. 1999 Jul;9(5):347-51. doi: 10.1016/s0960-8966(99)00018-8. Neuromuscul Disord. 1999. PMID: 10407858
Periconceptional folic acid associated with an increased risk of oral clefts relative to non-folate related malformations in the Northern Netherlands: a population based case-control study.
Rozendaal AM, van Essen AJ, te Meerman GJ, Bakker MK, van der Biezen JJ, Goorhuis-Brouwer SM, Vermeij-Keers C, de Walle HE. Rozendaal AM, et al. Among authors: van essen aj, van der biezen jj. Eur J Epidemiol. 2013 Nov;28(11):875-87. doi: 10.1007/s10654-013-9849-0. Epub 2013 Oct 4. Eur J Epidemiol. 2013. PMID: 24092049
The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.
van den Akker PC, Jonkman MF, Rengaw T, Bruckner-Tuderman L, Has C, Bauer JW, Klausegger A, Zambruno G, Castiglia D, Mellerio JE, McGrath JA, van Essen AJ, Hofstra RM, Swertz MA. van den Akker PC, et al. Among authors: van essen aj. Hum Mutat. 2011 Oct;32(10):1100-7. doi: 10.1002/humu.21551. Epub 2011 Sep 9. Hum Mutat. 2011. PMID: 21681854
107 results