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BioMed Research International
Volume 2016, Article ID 8742939, 8 pages
http://dx.doi.org/10.1155/2016/8742939
Research Article

Identification and Functional Characterization of Two Intronic NIPBL Mutations in Two Patients with Cornelia de Lange Syndrome

1Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, School of Medicine, University of Zaragoza, CIBERER-GCV and ISS-Aragon, 50009 Zaragoza, Spain
2Section of Functional Genetics, Institute of Human Genetics, University of Lübeck, 23538 Lübeck, Germany
3Department of Health Sciences, Medical Genetics, University of Milan, 20122 Milan, Italy
4Department of Pediatrics, Pablo Tobon Uribe Hospital, 05001000 Medellín, Colombia
5Institute of Human Genetics, University of Lübeck, 23538 Lübeck, Germany
6Institute of Human Genetics, University Hospital Düsseldorf, Heinrich-Heine University, 40225 Düsseldorf, Germany

Received 3 October 2015; Accepted 16 November 2015

Academic Editor: Claude Prigent

Copyright © 2016 María E. Teresa-Rodrigo et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Citations to this Article [4 citations]

The following is the list of published articles that have cited the current article.

  • Juan Pié, Beatriz Puisac, Maria Hernández-Marcos, Maria Esperanza Teresa-Rodrigo, Maria Gil-Rodríguez, Carolina Baquero-Montoya, Maria Ramos-Cáceres, Maria Bernal, Ariadna Ayerza-Casas, Inés Bueno, Paulino Gómez-Puertas, and Feliciano J. Ramos, “Special cases in Cornelia de Lange syndrome: The Spanish experience,” American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2016. View at Publisher · View at Google Scholar
  • Mirjam C. G. N. van den Hout, Wilfred F. J. van Ijcken, Ilaria Parenti, Frank J. Kaiser, Kerstin S. Wendt, Valentina Casa, Yorann Baron, Jessica Zuin, Erwan Watrin, Jelena Pozojevic, Petros Kolovos, and Diana Braunholz, “Regulation of the cohesin-loading factor NIPBL: Role of the lncRNA NIPBL-AS1 and identification of a distal enhancer element,” PLoS Genetics, vol. 13, no. 12, 2017. View at Publisher · View at Google Scholar
  • Natalia Krawczynska, Alina Kuzniacka, Jolanta Wierzba, Ilaria Parenti, Frank J. Kaiser, and Bartosz Wasag, “Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome,” Frontiers in Genetics, vol. 9, 2018. View at Publisher · View at Google Scholar
  • Sam Abdulla, “Cornelia de Lange syndrome,” Learning Disability Practice, vol. 21, no. 2, pp. 19–19, 2018. View at Publisher · View at Google Scholar