NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series – further understanding of the relevance of NRXN1 to neurodevelopmental disorders

Sarah Curran; Joo Wook Ahn; Hannah Grayton; David A Collier; Caroline Mackie Ogilvie

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NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series – further understanding of the relevance of NRXN1 to neurodevelopmental disorders

机译：通过阵列比较基因组杂交在临床病例系列中鉴定出NRXN1缺失–进一步了解NRXN1与神经发育障碍的相关性

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Background Microdeletions in the NRXN1 gene have been associated with a range of neurodevelopmental disorders, including autism spectrum disorders, schizophrenia, intellectual disability, speech and language delay, epilepsy and hypotonia.

机译：背景NRXN1基因的微缺失与一系列神经发育障碍有关，包括自闭症谱系障碍，精神分裂症，智力残疾，言语和语言延迟，癫痫和肌张力减退。

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《Journal of Molecular Psychiatry》 |2013年第1期|1-7|共7页
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Sarah Curran; Joo Wook Ahn; Hannah Grayton; David A Collier; Caroline Mackie Ogilvie;
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Copy number variants Autism spectrum disorders NRXN1 Neurodevelopmental disorders Epilepsy Microcephaly Neurexins;

机译：拷贝数变异自闭症谱系障碍NRXN1神经发育障碍癫痫小头神经毒素;

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1. NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series – further understanding of the relevance of NRXN1 to neurodevelopmental disorders [J] . Sarah Curran, Joo Wook Ahn, Hannah Grayton, Journal of Molecular Psychiatry . 2013,第1期

机译：通过阵列比较基因组杂交在临床病例系列中鉴定出NRXN1缺失–进一步了解NRXN1与神经发育障碍的相关性
2. The clinical relevance of intragenic NRXN1 deletions [J] . Journal of Medical Genetics . 2020,第5期

机译：腺内NRXN1缺失的临床相关性
3. A 10.46 Mb 12p11.1-12.1 Interstitial Deletion Coincident With a 0.19 Mb NRXN1 Deletion Detected by Array CGH in a Girl With Scoliosis and Autism [J] . Yasemin Soysal, Joris Vermeesch, Nooshin Ardeshir Davani, American journal of medical genetics, Part A . 2011,第7期

机译：脊柱侧弯和自闭症女孩通过阵列CGH检测到的10.46 Mb 12p11.1-12.1间隙缺失巧合与0.19 Mb NRXN1缺失
4. NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series – further understanding of the relevance of NRXN1 to neurodevelopmental disorders [O] . Sarah Curran, Joo Wook Ahn, Hannah Grayton, 2013

机译：通过阵列比较基因组杂交在临床病例系列中鉴定出NRXN1缺失–进一步了解NRXN1与神经发育障碍的相关性
5. NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series – further understanding of the relevance of NRXN1 to neurodevelopmental disorders [O] . Sarah Curran, Joo Wook Ahn, Hannah Grayton, 2013

机译：通过阵列比较基因组杂交在临床病例系列中鉴定出NRXN1缺失–进一步了解NRXN1与神经发育障碍的相关性

NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series – further understanding of the relevance of NRXN1 to neurodevelopmental disorders

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