Identification of single gene deletions at 15q13.3: further evidence thatCHRNA7causes the 15q13.3 microdeletion syndrome phenotype
出版年份 2012 全文链接
标题
Identification of single gene deletions at 15q13.3: further evidence thatCHRNA7causes the 15q13.3 microdeletion syndrome phenotype
作者
关键词
-
出版物
CLINICAL GENETICS
Volume 83, Issue 4, Pages 345-351
出版商
Wiley
发表日期
2012-07-09
DOI
10.1111/j.1399-0004.2012.01925.x
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features
- (2011) Jun Liao et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders
- (2011) Fady M. Mikhail et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings
- (2011) Malte Spielmann et al. European Journal of Medical Genetics
- A 15q13.3 homozygous microdeletion associated with a severe neurodevelopmental disorder suggests putative functions of theTRPM1,CHRNA7, and other homozygously deleted genes
- (2010) Jean-Baptiste LePichon et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia
- (2010) Volker Endris et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Delineation of 15q13.3 microdeletions
- (2010) A Masurel-Paulet et al. CLINICAL GENETICS
- Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
- (2009) L. M. Dibbens et al. HUMAN MOLECULAR GENETICS
- Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
- (2009) S Ben-Shachar et al. JOURNAL OF MEDICAL GENETICS
- Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
- (2009) B W M van Bon et al. JOURNAL OF MEDICAL GENETICS
- A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
- (2009) Marwan Shinawi et al. NATURE GENETICS
- 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
- (2009) Ingo Helbig et al. NATURE GENETICS
- Association of the 5′-upstream regulatory region of the α7 nicotinic acetylcholine receptor subunit gene (CHRNA7) with schizophrenia
- (2009) Sarah H. Stephens et al. SCHIZOPHRENIA RESEARCH
- A 15q13.3 microdeletion segregating with autism
- (2008) Alistair T Pagnamenta et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
- (2008) D T Miller et al. JOURNAL OF MEDICAL GENETICS
- Rare chromosomal deletions and duplications increase risk of schizophrenia
- (2008) Jennifer L. Stone et al. NATURE
- Large recurrent microdeletions associated with schizophrenia
- (2008) Hreinn Stefansson et al. NATURE
- A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
- (2008) Andrew J Sharp et al. NATURE GENETICS
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