换一批
第一作者：
Ina,Schanze
第一单位：
Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg 39120, Germany.
作者：
Ina,Schanze [1]
;
Jens,Bunt [2]
;
Jonathan W C,Lim [3]
;
Denny,Schanze [1]
;
Ryan J,Dean [3]
;
Marielle,Alders [4]
;
Patricia,Blanchet [5]
;
Tania,Attié-Bitach [6]
;
Siren,Berland [7]
;
Steven,Boogert [1]
;
Sangamitra,Boppudi [1]
;
Caitlin J,Bridges [1]
;
Megan T,Cho [8]
;
William B,Dobyns [9]
;
Dian,Donnai [10]
;
Jessica,Douglas [11]
;
Dawn L,Earl [12]
;
Timothy J,Edwards [13]
;
Laurence,Faivre [14]
;
Brieana,Fregeau [15]
;
David,Genevieve [5]
;
Marion,Gérard [16]
;
Vincent,Gatinois [5]
;
Muriel,Holder-Espinasse [17]
;
Samuel F,Huth [3]
;
Kosuke,Izumi [18]
;
Bronwyn,Kerr [10]
;
Elodie,Lacaze [19]
;
Phillis,Lakeman [4]
;
Sonal,Mahida [20]
;
Ghayda M,Mirzaa [9]
;
Sian M,Morgan [21]
;
Catherine,Nowak [11]
;
Hilde,Peeters [22]
;
Florence,Petit [23]
;
Daniela T,Pilz [24]
;
Jacques,Puechberty [5]
;
Eyal,Reinstein [25]
;
Jean-Baptiste,Rivière [26]
;
Avni B,Santani [27]
;
Anouck,Schneider [5]
;
Elliott H,Sherr [15]
;
Constance,Smith-Hicks [20]
;
Ilse,Wieland [1]
;
Elaine,Zackai [28]
;
Xiaonan,Zhao [29]
;
Richard M,Gronostajski [30]
;
Martin,Zenker [31]
;
Linda J,Richards [32]
作者单位：
Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg 39120, Germany.
[1]
Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia. Electronic address: j.bunt@uq.edu.au.
[2]
Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia.
[3]
Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam 1105 AZ, the Netherlands.
[4]
INSERM U1183, Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Génétique clinique, CHU Montpellier, Université Montpellier, Centre de référence anomalies du développement SORO, Montpellier 34295, France.
[5]
INSERM U1163, Laboratory of Embryology and Genetics of Congenital Malformations, Paris Descartes University, Sorbonne Paris Cité and Imagine Institute, Paris 75015, France.
[6]
Department of Medical Genetics, Haukeland University Hospital, Bergen 5021, Norway.
[7]
GeneDx, Gaithersburg, MD 20877, USA.
[8]
Department of Pediatrics (Genetics), University of Washington and Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.
[9]
Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust; Division of Evolution and Genomic Sciences School of Biological Sciences, and University of Manchester, Manchester M13 9WL, UK.
[10]
Boston Children's Hospital - The Feingold Center, Waltham, MA 02115, USA.
[11]
Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA.
[12]
Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia; The Faculty of Medicine Brisbane, The University of Queensland, Brisbane, QLD 4072, Australia.
[13]
UMR1231, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon 21079, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire Dijon, Dijon 21079, France.
[14]
Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
[15]
Service de Génétique, CHU de Caen - Hôpital Clémenceau, Caen Cedex 14000, France.
[16]
Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, Lille 59000, France; Department of Clinical Genetics, Guy's Hospital, London SE1 9RT, UK.
[17]
Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
[18]
Department of genetics, Le Havre Hospital, 76600 Le Havre, France.
[19]
Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
[20]
All Wales Genetics Laboratory, Institute of Medical Genetics, University Hospital of Wales, Cardiff CF14 4XW, UK.
[21]
Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven 3000, Belgium.
[22]
Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, Lille 59000, France.
[23]
West of Scotland Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
[24]
Medical Genetics Institute, Meir Medical Center, Kfar-Saba 4428164, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.
[25]
UMR1231, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon 21079, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire Dijon, Dijon 21079, France; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, QC H4A 3J1, Canada.
[26]
Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
[27]
Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
[28]
Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
[29]
Department of Biochemistry, Program in Genetics, Genomics and Bioinformatics, Center of Excellence in Bioinformatics and Life Sciences, State University of New York at Buffalo, Buffalo, NY 14203, USA.
[30]
Institute of Human Genetics, University Hospital Magdeburg, Otto-von-Guericke University, Magdeburg 39120, Germany. Electronic address: martin.zenker@med.ovgu.de.
[31]
Queensland Brain Institute, The University of Queensland, Brisbane, QLD 4072, Australia; School of Biomedical Sciences, The Faculty of Medicine Brisbane, The University of Queensland, Brisbane, QLD 4072, Australia.
[32]
医学主题词
青少年(Adolescent);成年人(Adult);动物(Animals);大脑皮质(Cerebral Cortex);儿童(Child);儿童, 学龄前(Child, Preschool);密码子, 无义(Codon, Nonsense);队列研究(Cohort Studies);胼胝体(Corpus Callosum);女(雌)性(Female);单倍剂量不足(Haploinsufficiency);人类(Humans);男(雄)性(Male);小鼠(Mice);小鼠, 基因敲除(Mice, Knockout);NFI转录因子类(NFI Transcription Factors);多态性, 单核苷酸(Polymorphism, Single Nucleotide);青年人(Young Adult)
DOI
10.1016/j.ajhg.2018.10.006
PMID
30388402
发布时间
2023-10-04
- 浏览13
American journal of human genetics
相似文献
- 中文期刊
- 外文期刊
- 学位论文
- 会议论文
