Elisabeth M de Jong
Affiliation: Erasmus MC
Country: The Netherlands
- Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap"Elisabeth M de Jong
Department of Pediatric Surgery, Erasmus MC Sophia Children s Hospital, PO Box 2060, 3000 CB, Rotterdam, The Netherlands
Curr Gastroenterol Rep 12:215-22. 2010..Recent advances in genotyping technology and in knowledge of human genetic variation will improve clinical counseling on etiologic factors. This review provides a clinical summary of environmental and genetic factors involved in EA/TEF...
- Genetic and environmental factors in the etiology of esophageal atresia and/or tracheoesophageal fistula: an overview of the current conceptsJanine F Felix
Department of Pediatric Surgery, Erasmus MC Sophia Children s Hospital, 3000 CB Rotterdam, The Netherlands
Birth Defects Res A Clin Mol Teratol 85:747-54. 2009..Environmental factors may also carry a risk, but the mechanisms are yet to be elucidated. This review gives an overview of the current state of knowledge about both genetic and environmental risk factors in the etiology of EA/TEF...
- Non-VACTERL-type anomalies are frequent in patients with esophageal atresia/tracheo-esophageal fistula and full or partial VACTERL associationElisabeth M de Jong
Department of Pediatric Surgery, Erasmus MC Sophia Children s Hospital, Rotterdam, The Netherlands
Birth Defects Res A Clin Mol Teratol 82:92-7. 2008..The full phenotype of patients with EA/TEF and other anomalies of the VACTERL spectrum of defects association is not well described in the literature...
- 5q11.2 deletion in a patient with tracheal agenesisElisabeth M de Jong
Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
Eur J Hum Genet 18:1265-8. 2010..No common deletions or duplications are found in our cohort, suggesting that TA is a genetically heterogeneous disorder...
- Structural and numerical changes of chromosome X in patients with esophageal atresiaErwin Brosens
1 Department of Clinical Genetics, Erasmus Medical Centre Sophia Children s Hospital, Rotterdam, The Netherlands 2 Department of Paediatric Surgery, Erasmus Medical Centre Sophia Children s Hospital, Rotterdam, The Netherlands
Eur J Hum Genet 22:1077-84. 2014..As normal patterns of XCI were seen, overexpression of X-linked genes that escape XCI, such as the SHOX gene, could be pathogenic by disturbing developmental pathways. ..
- [A woman with a painful hip]Elisabeth M de Jong
Erasmus Medisch Centrum, Faculteit Geneeskunde, Rotterdam, The Netherlands
Ned Tijdschr Geneeskd 156:A2984. 2012..A CT-scan of the abdomen and left upper leg showed a ruptured abscess in the left kidney with free gas, spreading through the M. iliopsoas into the upper left leg. On request of the patient and her family no treatment was given...