Birnie E - Search Results

1

Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.

Herkert JC, Verhagen JMA, Yotti R, Haghighi A, Phelan DG, James PA, Brown NJ, Stutterd C, Macciocca I, Leong K, Bulthuis MLC, van Bever Y, van Slegtenhorst MA, Boven LG, Roberts AE, Agarwal R, Seidman J, Lakdawala NK, Fernández-Avilés F, Burke MA, Pierpont ME, Braunlin E, Ḉağlayan AO, Barge-Schaapveld DQCM, Birnie E, van Osch-Gevers L, van Langen IM, Jongbloed JDH, Lockhart PJ, Amor DJ, Seidman CE, van de Laar IMBH. Herkert JC, et al. Among authors: birnie e. Am Heart J. 2020 Jul;225:108-119. doi: 10.1016/j.ahj.2020.03.023. Epub 2020 Apr 21. Am Heart J. 2020. PMID: 32480058 Free article.

2

Genetic knowledge and counselling skills of Dutch cardiologists: sufficient for the genomics era?

van Langen IM, Birnie E, Leschot NJ, Bonsel GJ, Wilde AA. van Langen IM, et al. Among authors: birnie e. Eur Heart J. 2003 Mar;24(6):560-6. doi: 10.1016/s0195-668x(02)00522-5. Eur Heart J. 2003. PMID: 12643889

3

Preferences of cardiologists and clinical geneticists for the future organization of genetic care in hypertrophic cardiomyopathy: a survey.

van Langen IM, Birnie E, Schuurman E, Tan HL, Hofman N, Bonsel GJ, Wilde AA. van Langen IM, et al. Among authors: birnie e. Clin Genet. 2005 Oct;68(4):360-8. doi: 10.1111/j.1399-0004.2005.00502.x. Clin Genet. 2005. PMID: 16143023

4

Familial disease with a risk of sudden death: a longitudinal study of the psychological consequences of predictive testing for long QT syndrome.

Hendriks KS, Hendriks MM, Birnie E, Grosfeld FJ, Wilde AA, van den Bout J, Smets EM, van Tintelen JP, ten Kroode HF, van Langen IM. Hendriks KS, et al. Among authors: birnie e. Heart Rhythm. 2008 May;5(5):719-24. doi: 10.1016/j.hrthm.2008.01.032. Epub 2008 Jan 30. Heart Rhythm. 2008. PMID: 18452877

5

Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy.

Christiaans I, Birnie E, Bonsel GJ, Wilde AA, van Langen IM. Christiaans I, et al. Among authors: birnie e. Eur J Hum Genet. 2008 Oct;16(10):1201-7. doi: 10.1038/ejhg.2008.92. Epub 2008 May 14. Eur J Hum Genet. 2008. PMID: 18478037

6

Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: a cross-sectional cohort study.

Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Wilde AA, Smets EM. Christiaans I, et al. Among authors: birnie e. Am J Med Genet A. 2009 Feb 15;149A(4):602-12. doi: 10.1002/ajmg.a.32710. Am J Med Genet A. 2009. PMID: 19253387

7

Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: the patients' perspective.

Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Wilde AA, Smets EM. Christiaans I, et al. Among authors: birnie e. Am J Med Genet A. 2009 Jul;149A(7):1444-51. doi: 10.1002/ajmg.a.32915. Am J Med Genet A. 2009. PMID: 19533783

8

Obtaining insurance after DNA diagnostics: a survey among hypertrophic cardiomyopathy mutation carriers.

Christiaans I, Kok TM, van Langen IM, Birnie E, Bonsel GJ, Wilde AA, Smets EM. Christiaans I, et al. Among authors: birnie e. Eur J Hum Genet. 2010 Feb;18(2):251-3. doi: 10.1038/ejhg.2009.145. Epub 2009 Aug 12. Eur J Hum Genet. 2010. PMID: 19672285 Free PMC article.

9

The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening.

Christiaans I, Birnie E, van Langen IM, van Spaendonck-Zwarts KY, van Tintelen JP, van den Berg MP, Atsma DE, Helderman-van den Enden AT, Pinto YM, Hermans-van Ast JF, Bonsel GJ, Wilde AA. Christiaans I, et al. Among authors: birnie e. Eur Heart J. 2010 Apr;31(7):842-8. doi: 10.1093/eurheartj/ehp539. Epub 2009 Dec 16. Eur Heart J. 2010. PMID: 20019025

10

Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: Dutch cardiologists and the care of mutation carriers.

Vehmeijer JT, Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Smets EM, Wilde AA. Vehmeijer JT, et al. Among authors: birnie e. Neth Heart J. 2009 Dec;17(12):464-9. doi: 10.1007/BF03086305. Neth Heart J. 2009. PMID: 20087449 Free PMC article.

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