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 15q13.3 Homozygous Microdeletion Associated With a Severe Neurodevelopmental Disorder Suggests Putative Functions of the TRPM1, CHRNA7, and Other Homozygously Deleted Genes
Jean-Baptiste LePichon et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Homozygous Loss of CHRNA7 on Chromosome 15q13.3 Causes Severe Encephalopathy With Seizures and Hypotonia
Volker Endris et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Delineation of 15q13.3 microdeletions
A. Masurel-Paulet et al.
CLINICAL GENETICS (2010)
Structures and Molecular Mechanisms for Common 15q13.3 Microduplications Involving CHRNA7: Benign or Pathological?
Przemyslaw Szafranski et al.
HUMAN MUTATION (2010)
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
Heather C. Mefford et al.
PLOS GENETICS (2010)
A 15q13.3 microdeletion segregating with autism
Alistair T. Pagnamenta et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
Leanne M. Dibbens et al.
HUMAN MOLECULAR GENETICS (2009)
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
D. T. Miller et al.
JOURNAL OF MEDICAL GENETICS (2009)
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders
S. Ben-Shachar et al.
JOURNAL OF MEDICAL GENETICS (2009)
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
B. W. M. van Bon et al.
JOURNAL OF MEDICAL GENETICS (2009)
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
Marwan Shinawi et al.
NATURE GENETICS (2009)
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Ingo Helbig et al.
NATURE GENETICS (2009)
Association of the 5′-upstream regulatory region of the α7 nicotinic acetylcholine receptor subunit gene (CHRNA7) with schizophrenia
Sarah H. Stephens et al.
SCHIZOPHRENIA RESEARCH (2009)
Neuronal nicotinic acetylcholine receptors: From the genetic analysis to neurological diseases
O. K. Steinlein et al.
BIOCHEMICAL PHARMACOLOGY (2008)
Rare chromosomal deletions and duplications increase risk of schizophrenia
Jennifer L. Stone et al.
NATURE (2008)
Large recurrent microdeletions associated with schizophrenia
Hreinn Stefansson et al.
NATURE (2008)
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
Andrew J. Sharp et al.
NATURE GENETICS (2008)
Association study of CHRFAM7A copy number and 2bp deletion polymorphisms with schizophrenia and bipolar affective disorder
Rachel H. Flomen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2006)
Population-based and family-based association studies of an (AC)n dinucleotide repeat in α-7 nicotinic receptor subunit gene and schizophrenia
Jin-Bo Fan et al.
SCHIZOPHRENIA RESEARCH (2006)
Association study of the human partially duplicated α7 nicotinic acetylcholine receptor genetic variant with bipolar disorder
CJ Hong et al.
NEUROSCIENCE LETTERS (2004)
Comparison of polymorphisms in the α7 nicotinic receptor gene and its partial duplication in schizophrenic and control subjects
J Gault et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2003)
Evaluation of the positional candidate gene CHRNA7 at the juvenile myoclonic epilepsy locus (EJM2) on chromosome 15q13-14
NL Taske et al.
EPILEPSY RESEARCH (2002)
Increased sensitivity to nicotine-induced seizures in mice expressing the L250T alpha 7 nicotinic acetylcholine receptor mutation
RS Broide et al.
MOLECULAR PHARMACOLOGY (2002)
Evidence for linkage disequilibrium between the alpha 7-nicotinic receptor gene (CHRNA7) locus and schizophrenia in Azorean families
JZ Xu et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)