High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders
暂无分享,去创建一个
L. Armengol | N. Baena | E. Vilella | L. Martorell | E. Gabau | S. Esteba-Castillo | Ramón Novell | A. Ruiz | M. Guitart | D. Torrents-Rodas | Núria Ribas-Vidal | Marina Viñas-Jornet
[1] Joan,et al. Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.
[2] Deciphering Developmental Disorders Study,et al. Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.
[3] S. Scherer,et al. Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression , 2016, Genetics in Medicine.
[4] A. Prasad,et al. Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders , 2016, International journal of molecular sciences.
[5] A. McQuillin,et al. Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders , 2016, European Journal of Human Genetics.
[6] P. Levitt,et al. The Genetic Intersection of Neurodevelopmental Disorders and Shared Medical Comorbidities – Relations that Translate from Bench to Bedside , 2016, Front. Psychiatry.
[7] K. Kahrizi,et al. Genetic Studies in Intellectual Disability and Behavioral Impairment. , 2016, Archives of Iranian medicine.
[8] Chad A Shaw,et al. Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients , 2015, Genetics in Medicine.
[9] G. Kirov,et al. Copy number variation in bipolar disorder , 2015, Molecular Psychiatry.
[10] Mahdi Sarmady,et al. Exome sequencing expands the mechanism of SOX5‐associated intellectual disability: A case presentation with review of sox‐related disorders , 2015, American journal of medical genetics. Part A.
[11] C. Schaaf,et al. The human clinical phenotypes of altered CHRNA7 copy number. , 2015, Biochemical pharmacology.
[12] F. Middleton,et al. Characterization of a Novel Mutation in SLC1A1 Associated with Schizophrenia , 2015, Molecular Neuropsychiatry.
[13] S. Scherer,et al. 15q11.2 Duplication Encompassing Only the UBE3A Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes , 2015, Human mutation.
[14] M. Roselló,et al. Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome , 2015, American journal of medical genetics. Part A.
[15] Kali T. Witherspoon,et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay , 2014, Nature Genetics.
[16] N. Baena,et al. A common cognitive, psychiatric, and dysmorphic phenotype in carriers of NRXN1 deletion , 2014, Molecular genetics & genomic medicine.
[17] S. Gimelli,et al. Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders , 2014, Molecular Cytogenetics.
[18] T. Iidaka,et al. Novel rare variants in F-box protein 45 (FBXO45) in schizophrenia , 2014, Schizophrenia Research.
[19] S Maier,et al. Disturbed cingulate glutamate metabolism in adults with high-functioning autism spectrum disorder: evidence in support of the excitatory/inhibitory imbalance hypothesis , 2014, Molecular Psychiatry.
[20] Dalila Pinto,et al. A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder , 2014, Journal of Neurodevelopmental Disorders.
[21] John Wei,et al. Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes , 2014, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
[22] C. Schaaf. Nicotinic acetylcholine receptors in human genetic disease , 2014, Genetics in Medicine.
[23] M. Bayés,et al. Genome-wide copy number variation analysis in adult attention-deficit and hyperactivity disorder. , 2014, Journal of psychiatric research.
[24] S Cichon,et al. Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder , 2012, Molecular Psychiatry.
[25] M. Bianchi,et al. Changes in the expression of the glutamate transporter EAAT3/EAAC1 in health and disease , 2013, Cellular and Molecular Life Sciences.
[26] Dan J Stein,et al. Classification systems in psychiatry: diagnosis and global mental health in the era of DSM-5 and ICD-11 , 2013, Current opinion in psychiatry.
[27] D. Collier,et al. Altered Social Behaviours in Neurexin 1α Knockout Mice Resemble Core Symptoms in Neurodevelopmental Disorders , 2013, PloS one.
[28] B. Greenberg,et al. Isoforms of the neuronal glutamate transporter gene, SLC1A1/EAAC1, negatively modulate glutamate uptake: relevance to obsessive-compulsive disorder , 2013, Translational Psychiatry.
[29] Michelle Jobes,et al. Functional Deficits in Pak5, Pak6 and Pak5/Pak6 Knockout Mice , 2013, PloS one.
[30] David W. Evans,et al. Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence , 2013, The Lancet Neurology.
[31] F. Middleton,et al. Deletion at the SLC1A1 glutamate transporter gene co‐segregates with schizophrenia and bipolar schizoaffective disorder in a 5‐generation family , 2013, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
[32] John Wei,et al. A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder , 2012, G3: Genes | Genomes | Genetics.
[33] Donna M. Martin,et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. , 2012, The New England journal of medicine.
[34] A. Saykin,et al. Analysis of copy number variation in Alzheimer's disease: the NIALOAD/ NCRAD Family Study. , 2012, Current Alzheimer research.
[35] P. Stankiewicz,et al. Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions , 2012, European Journal of Human Genetics.
[36] Kara L Hamilton-Nelson,et al. Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci , 2012, Molecular Autism.
[37] Stephanie E. Vallee,et al. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features , 2012, Human mutation.
[38] N. Bass,et al. Genetic investigation for adults with intellectual disability: opportunities and challenges. , 2012, Current Opinion in Neurology.
[39] Bradley P. Coe,et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.
[40] S Purcell,et al. De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia , 2011, Molecular Psychiatry.
[41] A. Hayashi‐Takagi,et al. Gene expression analysis in lymphoblastoid cells as a potential biomarker of bipolar disorder , 2011, Journal of Human Genetics.
[42] Carlos S. Moreno,et al. Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes , 2011, PLoS genetics.
[43] Joseph T. Glessner,et al. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder , 2011, Human Genetics.
[44] D. Collier,et al. A genome‐wide association study for quantitative traits in schizophrenia in China , 2011, Genes, brain, and behavior.
[45] N. Okamoto,et al. Novel variants of the SHANK3 gene in Japanese autistic patients with severe delayed speech development , 2011, Psychiatric genetics.
[46] C. Bishop,et al. Mitochondrial peptidase IMMP2L mutation causes early onset of age‐associated disorders and impairs adult stem cell self‐renewal , 2011, Aging cell.
[47] Boris Yamrom,et al. Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders , 2011, Neuron.
[48] E. Zackai,et al. Identification of SPRED1 deletions using RT‐PCR, multiplex ligation‐dependent probe amplification and quantitative PCR , 2011, American journal of medical genetics. Part A.
[49] J. Rosenfeld,et al. Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders , 2010, Genetics in Medicine.
[50] D. Rujescu,et al. Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha , 2010, Molecular Psychiatry.
[51] E. Eichler,et al. Phenotypic variability and genetic susceptibility to genomic disorders. , 2010, Human molecular genetics.
[52] T. Shaikh,et al. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes , 2010, Molecular Psychiatry.
[53] Jiannis Ragoussis,et al. Characterization of a Family with Rare Deletions in CNTNAP5 and DOCK4 Suggests Novel Risk Loci for Autism and Dyslexia , 2010, Biological Psychiatry.
[54] B. Hirsch,et al. A novel microdeletion/microduplication syndrome of 19p13.13 , 2010, Genetics in Medicine.
[55] Gary D Bader,et al. Functional impact of global rare copy number variation in autism spectrum disorders , 2010, Nature.
[56] P. Stankiewicz,et al. Intragenic rearrangements in NRXN1 in three families with autism spectrum disorder, developmental delay, and speech delay , 2010, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
[57] Marie-Pierre Dubé,et al. De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia , 2010, Proceedings of the National Academy of Sciences.
[58] T. Shaikh,et al. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes , 2010, Molecular Psychiatry.
[59] Tomi D. Berney,et al. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L–DOCK4 gene region in autism susceptibility , 2009, Molecular Psychiatry.
[60] Matthew R. G. Taylor,et al. High prevalence of array comparative genomic hybridization abnormalities in adults with unexplained intellectual disability , 2010, Genetics in Medicine.
[61] H. Okano,et al. Fbxo45, a Novel Ubiquitin Ligase, Regulates Synaptic Activity* , 2009, The Journal of Biological Chemistry.
[62] D. Arking,et al. A GENOME-WIDE LINKAGE AND ASSOCIATION SCAN REVEALS NOVEL LOCI FOR AUTISM , 2009, Nature.
[63] Laurence Faivre,et al. Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. , 2009, Archives of general psychiatry.
[64] August G. Wang,et al. Association of MCTP2 gene variants with schizophrenia in three independent samples of Scandinavian origin (SCOPE) , 2009, Psychiatry Research.
[65] Robert T. Schultz,et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders , 2009, Nature.
[66] Robert T. Schultz,et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes , 2009, Nature.
[67] E. Pasmant,et al. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype , 2009, Journal of Medical Genetics.
[68] H. Nicolini,et al. Methionine sulfoxide reductase: A novel schizophrenia candidate gene , 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.
[69] L. Armengol,et al. ProSeeK: A web server for MLPA probe design , 2008, BMC Genomics.
[70] A. Jablensky,et al. Intellectual disability co-occurring with schizophrenia and other psychiatric illness: population-based study , 2008, British Journal of Psychiatry.
[71] J. Meador-Woodruff,et al. Abnormal expression of glutamate transporter and transporter interacting molecules in prefrontal cortex in elderly patients with schizophrenia , 2008, Schizophrenia Research.
[72] Nils Z. Borgesius,et al. Spred1 Is Required for Synaptic Plasticity and Hippocampus-Dependent Learning , 2008, The Journal of Neuroscience.
[73] M. McInnis,et al. Psychiatric genetics: progress amid controversy , 2008, Nature Reviews Genetics.
[74] Joseph A. Gogos,et al. Strong association of de novo copy number mutations with sporadic schizophrenia , 2008, Nature Genetics.
[75] R. Tervo,et al. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication , 2008, Molecular Cytogenetics.
[76] K. Doheny,et al. 3q29 interstitial microduplication: A new syndrome in a three‐generation family , 2008, American journal of medical genetics. Part A.
[77] D. Pinto,et al. Structural variation of chromosomes in autism spectrum disorder. , 2008, American journal of human genetics.
[78] Christian R Marshall,et al. Contribution of SHANK3 mutations to autism spectrum disorder. , 2007, American journal of human genetics.
[79] G. Thomas,et al. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype , 2007, Nature Genetics.
[80] K. Lowe,et al. Challenging behaviours: prevalence and topographies. , 2007, Journal of intellectual disability research : JIDR.
[81] S. Cooper,et al. Mental ill-health in adults with intellectual disabilities: prevalence and associated factors , 2007, British Journal of Psychiatry.
[82] Daniel C Javitt,et al. Glutamate and schizophrenia: phencyclidine, N-methyl-D-aspartate receptors, and dopamine-glutamate interactions. , 2007, International review of neurobiology.
[83] N. Bouras,et al. Assessment of mental health problems in people with intellectual disabilities. , 2006, The Israel journal of psychiatry and related sciences.
[84] B. D. de Vries,et al. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. , 2005, American journal of human genetics.
[85] L. Feuk,et al. Detection of large-scale variation in the human genome , 2004, Nature Genetics.
[86] Kenny Q. Ye,et al. Large-Scale Copy Number Polymorphism in the Human Genome , 2004, Science.
[87] Nelson B Freimer,et al. Genomewide linkage disequilibrium mapping of severe bipolar disorder in a population isolate. , 2002, American journal of human genetics.
[88] A. Monaco,et al. A forkhead-domain gene is mutated in a severe speech and language disorder , 2001, Nature.
[89] S. Einfeld,et al. Challenging behaviour : analysis and intervention in people with intellectual disabilities. , 2001 .
[90] C. Hahn,et al. Abnormalities in protein kinase C signaling and the pathophysiology of bipolar disorder. , 1999, Bipolar disorders.