De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention
暂无分享,去创建一个
[1] E. Encyclopedia,et al. Organisation Mondiale de la Santé , 2014 .
[2] G. Rouleau,et al. De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention , 2012, Genome Medicine.
[3] S. Steinberg,et al. Rate of de novo mutations and the importance of father’s age to disease risk , 2012, Nature.
[4] Eden R Martin,et al. Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. , 2012, Human molecular genetics.
[5] J. Veltman,et al. De novo mutations in human genetic disease , 2012, Nature Reviews Genetics.
[6] H. C. Fan,et al. Noninvasive Prenatal Measurement of the Fetal Genome , 2012, Nature.
[7] Jay Shendure,et al. Noninvasive Whole-Genome Sequencing of a Human Fetus , 2012, Science Translational Medicine.
[8] D. Pinto,et al. SHANK1 Deletions in Males with Autism Spectrum Disorder. , 2012, American journal of human genetics.
[9] Kenny Q. Ye,et al. De Novo Gene Disruptions in Children on the Autistic Spectrum , 2012, Neuron.
[10] Michael F. Walker,et al. De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.
[11] Evan T. Geller,et al. Patterns and rates of exonic de novo mutations in autism spectrum disorders , 2012, Nature.
[12] D. Cooper,et al. Exome sequencing: a transient technology for molecular diagnostics? , 2012, Expert review of molecular diagnostics.
[13] Bradley P. Coe,et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.
[14] J. Hardy,et al. Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series , 2012, Neurobiology of Aging.
[15] J. Sebat,et al. High Frequencies of De Novo CNVs in Bipolar Disorder and Schizophrenia , 2011, Neuron.
[16] Susanne Walitza,et al. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder , 2011, Nature Genetics.
[17] L. Vissers,et al. De novo copy number variants associated with intellectual disability have a paternal origin and age bias , 2011, Journal of Medical Genetics.
[18] Hugo Y. K. Lam,et al. Performance comparison of exome DNA sequencing technologies , 2011, Nature Biotechnology.
[19] S. Lok,et al. Increased exonic de novo mutation rate in individuals with schizophrenia , 2011, Nature Genetics.
[20] Jamie K Teer,et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. , 2011, The New England journal of medicine.
[21] S. Levy,et al. Exome sequencing supports a de novo mutational paradigm for schizophrenia , 2011, Nature Genetics.
[22] M. Cho,et al. Cell-Free Fetal Nucleic Acid Testing: A Review of the Technology and Its Applications , 2011, Obstetrical & gynecological survey.
[23] Kathryn Roeder,et al. Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism , 2011, Neuron.
[24] J. Lupski,et al. Genomic medicine and neurological disease , 2011, Human Genetics.
[25] R. Huganir,et al. Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. , 2011, American journal of human genetics.
[26] Yama W. L. Zheng,et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study , 2011, BMJ : British Medical Journal.
[27] Christian Gilissen,et al. A de novo paradigm for mental retardation , 2010, Nature Genetics.
[28] C. Depienne,et al. De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine , 2010, Neurology.
[29] Alexander R. Griffing,et al. Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. , 2010, American journal of human genetics.
[30] Emily H Turner,et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome , 2010, Nature Genetics.
[31] T. Laursen,et al. Reproductive patterns in psychotic patients , 2010, Schizophrenia Research.
[32] John B. Vincent,et al. Citation for Published Item: Use Policy the Genetic Basis of Non-syndromic Intellectual Disability: a Review , 2022 .
[33] Christian Gilissen,et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome , 2010, Nature Genetics.
[34] Z. Wszolek,et al. De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis , 2010, Human mutation.
[35] P. Shannon,et al. Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing , 2010, Science.
[36] 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.
[37] Tomas W. Fitzgerald,et al. Origins and functional impact of copy number variation in the human genome , 2010, Nature.
[38] M. Lynch. Rate, molecular spectrum, and consequences of human mutation , 2010, Proceedings of the National Academy of Sciences.
[39] B. Post,et al. Juvenile rapid-onset dystonia parkinsonism due to a ‘de novo’ mutation in the ATP1A3 gene , 2009, Journal of Pediatric Neurology.
[40] J. Houwing-Duistermaat,et al. Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy , 2009, Clinical genetics.
[41] Elvira Bramon,et al. Disruption of the neurexin 1 gene is associated with schizophrenia. , 2009, Human molecular genetics.
[42] A. Addington,et al. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. , 2009, The New England journal of medicine.
[43] F. Légaré,et al. Decisional needs assessment regarding Down syndrome prenatal testing: a systematic review of the perceptions of women, their partners and health professionals , 2008, Prenatal diagnosis.
[44] Tatiana A. Tatusova,et al. NCBI Reference Sequences: current status, policy and new initiatives , 2008, Nucleic Acids Res..
[45] Thomas W. Mühleisen,et al. Large recurrent microdeletions associated with schizophrenia , 2008, Nature.
[46] Joseph A. Gogos,et al. Strong association of de novo copy number mutations with sporadic schizophrenia , 2008, Nature Genetics.
[47] Christian R Marshall,et al. Contribution of SHANK3 mutations to autism spectrum disorder. , 2007, American journal of human genetics.
[48] H. Kurahashi,et al. Focal epilepsy resulting from a de novo SCN1A mutation. , 2007, Neuropediatrics.
[49] F. Gianfrancesco,et al. De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia , 2007, Journal of Neurology, Neurosurgery, and Psychiatry.
[50] H. Firth,et al. Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome , 2005, European Journal of Human Genetics.
[51] J. Ward,et al. Will men attribute fault to their GP for adverse effects arising from controversial screening tests? An Australian study using scenarios about PSA screening , 2004, Journal of medical screening.
[52] J. Gécz,et al. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. , 2004, American journal of human genetics.
[53] P. Sullivan,et al. Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. , 2003, Archives of general psychiatry.
[54] Thomas Bourgeron,et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism , 2003, Nature Genetics.
[55] F. Baas,et al. Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. , 2003, Human molecular genetics.
[56] J. Lupski,et al. Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation , 2002, Annals of neurology.
[57] L. Lagae,et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. , 2001, American journal of human genetics.
[58] P. Huppke,et al. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. , 2001, American journal of human genetics.
[59] C. Brenner. Genomic approaches to elucidation of the Fhit pathway in worms and yeast: Rosetta Stone and synthetic lethals , 2001, Nature Genetics.
[60] M. Lucas,et al. Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations , 2001, Annals of neurology.
[61] J. Chelly,et al. Parental origin of de novo MECP2 mutations in Rett syndrome , 2001, European Journal of Human Genetics.
[62] J. Crow. The origins, patterns and implications of human spontaneous mutation , 2000, Nature Reviews Genetics.
[63] Rivka L. Glaser,et al. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. , 2000, American journal of human genetics.
[64] J. Parisi,et al. De novo mutation in the Notch3 gene causing CADASIL , 2000, Annals of neurology.
[65] H. Zoghbi,et al. Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. , 1999, American journal of human genetics.
[66] H. Zoghbi,et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 , 1999, Nature Genetics.
[67] S Kobayashi,et al. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? , 1999, Human molecular genetics.
[68] N M Hjelm,et al. Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. , 1998, The New England journal of medicine.
[69] Gina Green,et al. Cost–benefit estimates for early intensive behavioral intervention for young children with autism—general model and single state case , 1998 .
[70] H. Zoghbi,et al. A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. , 1997, American journal of human genetics.
[71] I. Sargent,et al. Presence of fetal DNA in maternal plasma and serum , 1997, The Lancet.
[72] Xavier Estivill,et al. Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients , 1996, Human Genetics.
[73] P. Goodfellow,et al. Parent-of-origin effects in multiple endocrine neoplasia type 2B. , 1994, American journal of human genetics.
[74] S. Pulst,et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2 , 1993, Nature.
[75] J. Rabe-Jabłońska,et al. [Affective disorders in the fourth edition of the classification of mental disorders prepared by the American Psychiatric Association -- diagnostic and statistical manual of mental disorders]. , 1993, Psychiatria polska.
[76] J. Haines,et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor , 1993, Cell.
[77] P. O'Connell,et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus , 1990, Cell.
[78] C. Mathew,et al. Paternal origin of new mutations in Von Recklinghausen neurofibromatosis , 1990, Nature.
[79] A. Korten,et al. Early manifestations and first-contact incidence of schizophrenia in different cultures: A preliminary report on the initial evaluation phase of the WHO Collaborative Study on Determinants of Outcome of Severe Mental Disorders , 1986, Psychological Medicine.
[80] A. Knudson. Mutation and cancer: statistical study of retinoblastoma. , 1971, Proceedings of the National Academy of Sciences of the United States of America.
[81] J. Stockman,et al. A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome , 2013 .
[82] Candace Timpte,et al. The Genetic Information Nondiscrimination Act , 2013 .
[83] Deni Elliott,et al. Genetic Information Nondiscrimination Act , 2008 .
[84] Thomas Bourgeron,et al. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders , 2007, Nature Genetics.
[85] C. Freitag,et al. The genetics of autistic disorders and its clinical relevance: a review of the literature , 2007, Molecular Psychiatry.
[86] J. Crow. Age and sex effects on human mutation rates: an old problem with new complexities. , 2006, Journal of radiation research.
[87] M. Clanet,et al. Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. , 2005, American journal of human genetics.
[88] S. Bhattacharya,et al. X chromosome linkage studies in familial Rett syndrome , 2004, Human Genetics.
[89] D. Rodriguez,et al. Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease , 2001, Nature Genetics.
[90] F. Baas,et al. Déjérine‐Sottas neuropathy is associated with a de novo PMP22 mutation , 1995, Human mutation.
[91] N. Kley,et al. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. , 1993, Cell.
[92] Sho Tin Chen,et al. National Institute of Mental Health , 2020, Definitions.