换一批
换一批De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.
作者：
Christopher T,Gordon [1]
;
Shifeng,Xue [2]
;
Gökhan,Yigit [3]
;
Hicham,Filali [4]
;
Kelan,Chen [5]
;
Nadine,Rosin [1]
;
Koh-Ichiro,Yoshiura [2]
;
Myriam,Oufadem [6]
;
Tamara J,Beck [7]
;
Ruth,McGowan [8]
;
Alex C,Magee [5]
;
Janine,Altmüller [9]
;
Camille,Dion [1]
;
Holger,Thiele [2]
;
Alexandra D,Gurzau [7]
;
Peter,Nürnberg [10]
;
Dieter,Meschede [11]
;
Wolfgang,Mühlbauer [12]
;
Nobuhiko,Okamoto [13]
;
Vinod,Varghese [14]
;
Rachel,Irving [15]
;
Sabine,Sigaudy [12]
;
Denise,Williams [7]
;
S Faisal,Ahmed [8]
;
Carine,Bonnard [12]
;
Mung Kei,Kong [14]
;
Ilham,Ratbi [16]
;
Nawfal,Fejjal [17]
;
Meriem,Fikri [18]
;
Siham Chafai,Elalaoui [19]
;
Hallvard,Reigstad [20]
;
Christine,Bole-Feysot [20]
;
Patrick,Nitschké [21]
;
Nicola,Ragge [22]
;
Nicolas,Lévy [23]
;
Gökhan,Tunçbilek [3]
;
Audrey S M,Teo [3]
;
Michael L,Cunningham [6]
;
Abdelaziz,Sefiani [24]
;
Hülya,Kayserili [25]
;
James M,Murphy [6]
;
Chalermpong,Chatdokmaiprai [26]
;
Axel M,Hillmer [27]
;
Duangrurdee,Wattanasirichaigoon [2]
;
Stanislas,Lyonnet [28]
;
Frédérique,Magdinier [2]
;
Asif,Javed [29]
;
Marnie E,Blewitt [22]
;
Jeanne,Amiel [30]
;
Bernd,Wollnik [15]
;
Bruno,Reversade [21]
作者单位：
Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, Paris, France.
[1]
Paris Descartes, Sorbonne Paris Cité Université, Institut Imagine, Paris, France.
[2]
Human Genetics and Embryology Laboratory, Institute of Medical Biology, A*STAR, Singapore.
[3]
Institute of Molecular and Cell Biology, A*STAR, Singapore.
[4]
Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
[5]
Centre de Génomique Humaine, Faculté de Médecine et de Pharmacie, Mohammed V University, Rabat, Morocco.
[6]
Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.
[7]
Department of Medical Biology, University of Melbourne, Melbourne, Victoria, Australia.
[8]
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
[9]
West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.
[10]
Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK.
[11]
Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany.
[12]
Institute of Human Genetics, University of Cologne, Cologne, Germany.
[13]
Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
[14]
Aix Marseille Université, INSERM, Génétique Médicale et Génomique Fonctionnelle (GMGF), UMRS 910, Marseille, France.
[15]
Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.
[16]
Praxis für Humangenetik, Cologne, Germany.
[17]
Plastische und Ästhetische Chirurgie, ATOS Klinik München, Munich, Germany.
[18]
Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.
[19]
Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
[20]
Département de Génétique Médicale, Hôpital Timone Enfant, Assistance Publique-Hôpitaux de Marseille, Marseille, France.
[21]
West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
[22]
Developmental Endocrinology Research Group, University of Glasgow, RHC, Glasgow, UK.
[23]
Service de Chirurgie Plastique Pédiatrique, Hôpital d'Enfants, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.
[24]
Service de Neuroradiologie, Hôpital des Spécialités, CHU Ibn Sina, Mohammed V University, Rabat, Morocco.
[25]
Département de Génétique Médical, Institut National d'Hygiène, Rabat, Morocco.
[26]
Neonatal Intensive Care Unit, Children's Department, Haukeland University Hospital, Bergen, Norway.
[27]
Genomic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
[28]
Bioinformatic Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
[29]
Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.
[30]
Department of Plastic, Reconstructive and Aesthetic Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.
[31]
Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, A*STAR, Singapore.
[32]
University of Washington Department of Pediatrics, Division of Craniofacial Medicine and Seattle Children's Hospital Craniofacial Center, Seattle, Washington, USA.
[33]
Department of Medical Genetics, Koç University, School of Medicine (KUSoM), Istanbul, Turkey.
[34]
Plastic and Maxillofacial Surgery, Department of Surgery, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
[35]
Division of Medical Genetics, Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
[36]
Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
[37]
Department of Paediatrics, School of Medicine, National University of Singapore, Singapore.
[38]
Amsterdam Reproduction and Development, Academic Medical Centre and VU University Medical Center, Amsterdam, the Netherlands.
[39]
主题词
动物(Animals);细胞系(Cell Line);儿童, 学龄前(Child, Preschool);鼻后孔闭锁(Choanal Atresia);染色体蛋白质类, 非组蛋白(Chromosomal Proteins, Non-Histone);后成说, 遗传(Epigenesis, Genetic);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);男(雄)性(Male);小鼠(Mice);小鼠, 近交C57BL(Mice, Inbred C57BL);小眼(Microphthalmos);肌营养不良, 面肩肱型(Muscular Dystrophy, Facioscapulohumeral);突变, 误义(Mutation, Missense);鼻(Nose);光滑爪蟾(Xenopus laevis)
DOI
10.1038/ng.3765
PMID
28067911
发布时间
2021-01-09
- 浏览5
Nature genetics
Nature genetics
249-255页
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
