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KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis
Authors:Lucie Gueneau  Richard J. Fish  Hanan E. Shamseldin  Norine Voisin  Frédéric Tran Mau-Them  Egle Preiksaitiene  Glen R. Monroe  Angeline Lai  Audrey Putoux  Fabienne Allias  Qamariya Ambusaidi  Laima Ambrozaityte  Loreta Cimbalistienė  Julien Delafontaine  Nicolas Guex  Mais Hashem  Wesam Kurdi  Saumya Shekhar Jamuar  Alexandre Reymond
Affiliation:1. Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland;2. Department of Genetic Medicine and Development, University of Geneva Medical School, 1211 Geneva, Switzerland;3. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia;4. Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS UMR 7104, INSERM Unité 964, 67404 Illkirch Cedex, France;5. Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France;6. Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania;7. Department of Genetics and Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands;8. KK Women’s and Children’s Hospital, Singapore 229899, Singapore;9. Lee Kong Chian School of Medicine, Nanyang Technological University-Imperial College London, Singapore 639798, Singapore;10. Service de Génétique, Hospices Civils de Lyon, 69002 Lyon, France;11. Centre de Recherche en Neurosciences de Lyon, INSERM U1028, UMR CNRS 5292, Université Claude Bernard Lyon 1, 69675 Bron Cedex, France;12. Département de Pathologie, Hospices Civils de Lyon, 69002 Lyon, France;13. Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia;14. Swiss Institute of Bioinformatics (SIB), 1015 Lausanne, Switzerland;15. Duke-NUS Medical School, Singapore 169857, Singapore;17. Sant’Orsola-Malpighi Hospital, Medical Genetics Unit, Pavillon 11, 2nd floor, Via Massarenti 9, 40138 Bologna, Italy;18. Deciphering Developmental Disorders (DDD) Study, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK;19. Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX1 2ED, UK;20. Center for Fetal Diagnosis and Treatment, Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA;21. Département d’imagerie pédiatrique et f?tale, Centre Pluridisciplinaire de Diagnostic Prénatal, Hôpital Femme Mère Enfant, Université Claude Bernard Lyon 1, 69677 Bron Cedex, France;23. Department of Paediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228, Singapore;24. Amsterdam Reproduction & Development, Academic Medical Centre & VU University Medical Center, 1105 AZ Amsterdam, the Netherlands;25. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia;26. Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 12371, Saudi Arabia
Abstract:
Keywords:brain malformations  clubfoot  arthrogryposis  whole-exome sequencing  hydrocephaly  cerebellar hypoplasia
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