Klaartje van Engelen

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. doi request reprint The value of the clinical geneticist caring for adults with congenital heart disease: diagnostic yield and patients' perspective
    Klaartje van Engelen
    Department of Cardiology, Academic Medical Center, Amsterdam, The, Netherlands
    Am J Med Genet A 161:1628-37. 2013
  2. pmc The ambiguous role of NKX2-5 mutations in thyroid dysgenesis
    Klaartje van Engelen
    Department of Cardiology, Academic Medical Center, Amsterdam, The Netherlands
    PLoS ONE 7:e52685. 2012
  3. doi request reprint 22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia
    Klaartje van Engelen
    Department of Cardiology, Academic Medical Center, Meibergdreef 9, Amsterdam, The Netherlands
    Heart 96:621-4. 2010
  4. doi request reprint Adults with congenital heart disease: patients' knowledge and concerns about inheritance
    Klaartje van Engelen
    Department of Cardiology, Academic Medical Center, Amsterdam, The Netherlands
    Am J Med Genet A 155:1661-7. 2011
  5. pmc Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature
    Klaartje van Engelen
    Department of Cardiology, Academic Medical Centre, Amsterdam, The Netherlands
    Eur J Pediatr 168:1081-90. 2009
  6. pmc A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q
    Judith B A van de Meerakker
    Heart Failure Research Centre, Department of Anatomy and Embryology, Academic Medical Centre, Amsterdam, The Netherlands
    Eur J Hum Genet 19:820-6. 2011
  7. doi request reprint Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7
    Alexa M C Vermeer
    Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
    Am J Med Genet C Semin Med Genet 163:178-84. 2013
  8. doi request reprint Mutations in the sarcomere gene MYH7 in Ebstein anomaly
    Alex V Postma
    Heart Failure Research Center, The Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands
    Circ Cardiovasc Genet 4:43-50. 2011

Collaborators

Detail Information

Publications8

  1. doi request reprint The value of the clinical geneticist caring for adults with congenital heart disease: diagnostic yield and patients' perspective
    Klaartje van Engelen
    Department of Cardiology, Academic Medical Center, Amsterdam, The, Netherlands
    Am J Med Genet A 161:1628-37. 2013
    ..With new genetic testing technologies an etiological diagnosis may be established in an increasing number of patients in the near future...
  2. pmc The ambiguous role of NKX2-5 mutations in thyroid dysgenesis
    Klaartje van Engelen
    Department of Cardiology, Academic Medical Center, Amsterdam, The Netherlands
    PLoS ONE 7:e52685. 2012
    ..Furthermore, given the wealth of published evidence, we suggest that NKX2-5 mutations do not play a major pathogenic role in thyroid dysgenesis, and that genetic testing of NKX2-5 in TD is not warranted...
  3. doi request reprint 22q11.2 Deletion Syndrome is under-recognised in adult patients with tetralogy of Fallot and pulmonary atresia
    Klaartje van Engelen
    Department of Cardiology, Academic Medical Center, Meibergdreef 9, Amsterdam, The Netherlands
    Heart 96:621-4. 2010
    ..Although it is currently common practice to test all children with typical CHD for 22q11.2DS, many adult patients have not been tested in the past and therefore 22q11.2DS might be under-recognised in adults...
  4. doi request reprint Adults with congenital heart disease: patients' knowledge and concerns about inheritance
    Klaartje van Engelen
    Department of Cardiology, Academic Medical Center, Amsterdam, The Netherlands
    Am J Med Genet A 155:1661-7. 2011
    ..A dedicated program of counseling for adults with CHD has to be developed to optimize knowledge and satisfaction with information provision and to reduce or manage concerns regarding inheritance of CHD...
  5. pmc Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature
    Klaartje van Engelen
    Department of Cardiology, Academic Medical Centre, Amsterdam, The Netherlands
    Eur J Pediatr 168:1081-90. 2009
    ..Prevalence was less than 3.6% in the majority of studies. Most studies lacked information on validity. We conclude that current evidence does not support standard cardiac screening in all patients with neuroblastoma...
  6. pmc A novel autosomal dominant condition consisting of congenital heart defects and low atrial rhythm maps to chromosome 9q
    Judith B A van de Meerakker
    Heart Failure Research Centre, Department of Anatomy and Embryology, Academic Medical Centre, Amsterdam, The Netherlands
    Eur J Hum Genet 19:820-6. 2011
    ..Because the mechanisms underlying CHD are largely unknown, this study represents an important step towards the discovery of genes implied in cardiogenesis...
  7. doi request reprint Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7
    Alexa M C Vermeer
    Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
    Am J Med Genet C Semin Med Genet 163:178-84. 2013
    ..Here, we will review the association between Ebstein anomaly, LVNC and mutations in MYH7, which seems to represent a subtype of Ebstein anomaly with autosomal dominant inheritance and variable penetrance...
  8. doi request reprint Mutations in the sarcomere gene MYH7 in Ebstein anomaly
    Alex V Postma
    Heart Failure Research Center, The Department of Anatomy, Embryology and Physiology, Academic Medical Center, Amsterdam, The Netherlands
    Circ Cardiovasc Genet 4:43-50. 2011
    ....