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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
Gordon, Christopher T; Xue, Shifeng; Yigit, Gökhan; Filali, Hicham; Chen, Kelan; Rosin, Nadine; Yoshiura, Koh-Ichiro; Oufadem, Myriam; Beck, Tamara J; McGowan, Ruth; Magee, Alex C; Altmüller, Janine; Dion, Camille; Thiele, Holger; Gurzau, Alexandra D; Nürnberg, Peter; Meschede, Dieter; Mühlbauer, Wolfgang; Okamoto, Nobuhiko; Varghese, Vinod; Irving, Rachel; Sigaudy, Sabine; Williams, Denise; Ahmed, S Faisal; Bonnard, Carine; Kong, Mung Kei; Ratbi, Ilham; Fejjal, Nawfal; Fikri, Meriem; Elalaoui, Siham Chafai; Reigstad, Hallvard; Bole-Feysot, Christine; Nitschké, Patrick; Ragge, Nicola; Lévy, Nicolas; Tunçbilek, Gökhan; Teo, Audrey S M; Cunningham, Michael L; Sefiani, Abdelaziz; Kayserili, Hülya; Murphy, James M; Chatdokmaiprai, Chalermpong; Hillmer, Axel M; Wattanasirichaigoon, Duangrurdee; Lyonnet, Stanislas; Magdinier, Frédérique; Javed, Asif; Blewitt, Marnie E; Amiel, Jeanne; Wollnik, Bernd.
Afiliación
  • Gordon CT; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Xue S; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.
  • Yigit G; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.
  • Filali H; Institute of Molecular and Cell Biology, A*STAR, Singapore.
  • Chen K; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Rosin N; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Yoshiura KI; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.
  • Oufadem M; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.
  • Beck TJ; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.
  • McGowan R; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.
  • Magee AC; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Altmüller J; Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
  • Dion C; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Thiele H; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.
  • Gurzau AD; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.
  • Nürnberg P; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
  • Meschede D; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
  • Mühlbauer W; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Okamoto N; Institute of Human Genetics, University of Cologne, Cologne, Germany.
  • Varghese V; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
  • Irving R; Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.
  • Sigaudy S; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Williams D; Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.
  • Ahmed SF; Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.
  • Bonnard C; Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
  • Kong MK; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
  • Ratbi I; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
  • Fejjal N; Praxis für Humangenetik, Cologne, Germany.
  • Fikri M; Plastische und Ästhetische Chirurgie, ATOS Klinik München, Munich, Germany.
  • Elalaoui SC; Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.
  • Reigstad H; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Bole-Feysot C; Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
  • Nitschké P; Département de Génétique Médicale, Hôpital Timone Enfant, Assistance Publique-Hôpitaux de Marseille, Marseille, France.
  • Ragge N; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
  • Lévy N; Developmental Endocrinology Research Group, University of Glasgow, RHC, Glasgow, UK.
  • Tunçbilek G; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.
  • Teo AS; Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.
  • Cunningham ML; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.
  • Sefiani A; Service de Chirurgie Plastique Pédiatrique, Hôpital d'Enfants, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.
  • Kayserili H; Service de Neuroradiologie, Hôpital des Spécialités, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.
  • Murphy JM; Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.
  • Chatdokmaiprai C; Département de Génétique Médical, Institut National d'Hygiène, Rabat, Morocco.
  • Hillmer AM; Neonatal Intensive Care Unit, Children's Department, Haukeland University Hospital, Bergen, Norway.
  • Wattanasirichaigoon D; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.
  • Lyonnet S; Genomic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Magdinier F; Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.
  • Javed A; Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Blewitt ME; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
  • Amiel J; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
  • Wollnik B; Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.
Nat Genet ; 49(2): 249-255, 2017 Feb.
Article en En | MEDLINE | ID: mdl-28067911
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Cromosómicas no Histona / Microftalmía / Nariz / Atresia de las Coanas / Mutación Missense Límite: Animals / Child, preschool / Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Francia
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Cromosómicas no Histona / Microftalmía / Nariz / Atresia de las Coanas / Mutación Missense Límite: Animals / Child, preschool / Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Francia