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Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
Kuil, Laura E; MacKenzie, Katherine C; Tang, Clara S; Windster, Jonathan D; Le, Thuy Linh; Karim, Anwarul; de Graaf, Bianca M; van der Helm, Robert; van Bever, Yolande; Sloots, Cornelius E J; Meeussen, Conny; Tibboel, Dick; de Klein, Annelies; Wijnen, René M H; Amiel, Jeanne; Lyonnet, Stanislas; Garcia-Barcelo, Maria-Mercè; Tam, Paul K H; Alves, Maria M; Brooks, Alice S; Hofstra, Robert M W; Brosens, Erwin.
Affiliation
  • Kuil LE; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • MacKenzie KC; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Tang CS; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Windster JD; Li Dak-Sum Research Centre, The University of Hong Kong-Karolinska Institutet Collaboration in Regenerative Medicine, Hong Kong, China.
  • Le TL; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Karim A; Department of Paediatric Surgery, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • de Graaf BM; Laboratory of embryology and genetics of malformations, Institut Imagine Université de Paris INSERM UMR1163 Necker Enfants malades University Hospital, Paris, France.
  • van der Helm R; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • van Bever Y; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Sloots CEJ; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Meeussen C; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Tibboel D; Department of Paediatric Surgery, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • de Klein A; Department of Paediatric Surgery, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Wijnen RMH; Department of Paediatric Surgery, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Amiel J; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Lyonnet S; Department of Paediatric Surgery, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Garcia-Barcelo MM; Laboratory of embryology and genetics of malformations, Institut Imagine Université de Paris INSERM UMR1163 Necker Enfants malades University Hospital, Paris, France.
  • Tam PKH; Laboratory of embryology and genetics of malformations, Institut Imagine Université de Paris INSERM UMR1163 Necker Enfants malades University Hospital, Paris, France.
  • Alves MM; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Brooks AS; Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
  • Hofstra RMW; Li Dak-Sum Research Centre, The University of Hong Kong-Karolinska Institutet Collaboration in Regenerative Medicine, Hong Kong, China.
  • Brosens E; Department of Clinical Genetics, Erasmus MC-Sophia Children's Hospital, University Medical Center Rotterdam, Rotterdam, The Netherlands.
PLoS Genet ; 17(8): e1009698, 2021 08.
Article in En | MEDLINE | ID: mdl-34358225
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Enteric Nervous System / Gene Regulatory Networks / DNA Copy Number Variations / Hirschsprung Disease Type of study: Observational_studies / Risk_factors_studies Limits: Animals / Humans Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2021 Document type: Article Affiliation country: Country of publication:
Fulltext
Add to My VHL
Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Enteric Nervous System / Gene Regulatory Networks / DNA Copy Number Variations / Hirschsprung Disease Type of study: Observational_studies / Risk_factors_studies Limits: Animals / Humans Language: En Journal: PLoS Genet Journal subject: GENETICA Year: 2021 Document type: Article Affiliation country: Country of publication: