Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.-论文-万方医学网

作者： Fabiola,Ceroni ^[1] ; Nuala H,Simpson ^[2] ; Clyde,Francks ^[3] ; Gillian,Baird ^[4] ; Gina,Conti-Ramsden ^[5] ; Ann,Clark ^[6] ; Patrick F,Bolton ^[7] ; Elizabeth R,Hennessy ^[8] ; Peter,Donnelly ^[2] ; David R,Bentley ^[9] ; Hilary,Martin ^[2] ; IMGSAC ^[10] ; SLI Consortium ^[11] ; WGS500 Consortium ^[1] ; Jeremy,Parr ^[1] ; Alistair T,Pagnamenta ^[3] ; Elena,Maestrini ^[2] ; Elena,Bacchelli ; Simon E,Fisher ; Dianne F,Newbury

作者单位： Dipartimento di Farmacia e Biotecnologie, University of Bologna, Bologna, Italy. ^[1] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. ^[2] 1] Max Planck Institute for Psycholinguistics, Nijmegen, Netherlands [2] Donders Institute for Brain, Cognition & Behaviour, Nijmegen, Netherlands. ^[3] Guy's & St Thomas NHS Foundation Trust, Newcomen Children's Neurosciences Centre, St Thomas' Hospital, London, UK. ^[4] School of Psychological Sciences, The University of Manchester, Manchester, UK. ^[5] Speech and Hearing Sciences, Queen Margaret University, Edinburgh, UK. ^[6] Departments of Child & Adolescent Psychiatry & Social Genetic & Developmental Psychiatry Centre, Institute of Psychiatry, Kings College London, London, UK. ^[7] University Child Health and DMDE, University of Aberdeen, Aberdeen, UK. ^[8] Illumina Cambridge Ltd., Chesterford Research Park, Little Chesterford, Essex, UK. ^[9] Institute of Neuroscience and Health and Society, Newcastle University, Newcastle, UK. ^[10] 1] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK [2] NIHR Biomedical Research Centre, Oxford and Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. ^[11]

主题词病例对照研究(Case-Control Studies);儿童发育障碍, 广泛性(Child Development Disorders, Pervasive);儿童, 学龄前(Child, Preschool);队列研究(Cohort Studies);DNA拷贝数变异(DNA Copy Number Variations);DNA结合蛋白质类(DNA-Binding Proteins);内肽酶类(Endopeptidases);外显子(Exons);女(雌)性(Female);GTP酶激活蛋白质类(GTPase-Activating Proteins);基因频率(Gene Frequency);基因座(Genetic Loci);纯合子(Homozygote);人类(Humans);语言发展障碍(Language Development Disorders);男(雄)性(Male);系谱(Pedigree);多态性, 单核苷酸(Polymorphism, Single Nucleotide);RNA, 信使(RNA, Messenger);结果可重复性(Reproducibility of Results);序列缺失(Sequence Deletion);锌指(Zinc Fingers)

DOI 10.1038/ejhg.2014.4

PMID 24518835

发布时间 2024-07-05

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Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.

European journal of human genetics

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European journal of human genetics

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Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment.

European journal of human genetics

相似文献

European journal of human genetics

相关期刊

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