E
Evelien Slot
Researcher at Erasmus University Medical Center
Publications - 3
Citations - 37
Evelien Slot is an academic researcher from Erasmus University Medical Center. The author has contributed to research in topics: Alveolar capillary dysplasia & Genomics. The author has an hindex of 1, co-authored 3 publications receiving 21 citations.
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Journal ArticleDOI
Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects.
Evelien Slot,Gabriëla Edel,Ernest Cutz,Arno van Heijst,Martin Post,Marco Schnater,Rene M. H. Wijnen,Dick Tibboel,Robbert J. Rottier,Annelies de Klein +9 more
TL;DR: An overview of the clinical aspects of ACD/MPV is provided, including guidance for clinicians, and ongoing research into the complex molecular mechanism causing this severe lung disorder is reviewed.
Journal ArticleDOI
Fast detection of FOXF1 variants in patients with alveolar capillary dysplasia with misalignment of pulmonary veins using targeted sequencing
Evelien Slot,Jan H. von der Thüsen,Arno van Heijst,Ronald van Marion,Frank Magielsen,Hendrikus J. Dubbink,Martin Post,Anne Debeer,Dick Tibboel,Robbert J. Rottier,Annelies de Klein +10 more
TL;DR: A fast and reliable targeted genetic test to detect variants in the FOXF1 gene and its regulatory region in one run potentially prevents unnecessary suffering for patients and reduces the use of futile and expensive treatments like extra-corporeal membrane oxygenation.
Journal ArticleDOI
Generation of three iPSC lines from two patients with heterozygous FOXF1 mutations associated to Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins
TL;DR: The generation of human iPSC lines from two ACD/MPV patients, each carrying a different heterozygous FoxF1 mutation, enables disease modeling for further research on the effect of FOXF1 variants in vitro.