Zobrazeno 1 - 10
of 473
pro vyhledávání: '"Heritability of autism"'
Autor:
Asuman S. Turkmen, Shili Lin
Publikováno v:
Genetic Epidemiology. 45:36-45
The breakthroughs in next generation sequencing have allowed us to access data consisting of both common and rare variants, and in particular to investigate the impact of rare genetic variation on complex diseases. Although rare genetic variants are
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f5984ffd858648ed3287ffa91d128d1
https://doi.org/10.1002/gepi.22352
https://doi.org/10.1002/gepi.22352
Autor:
Orly Weissberg, Evan Elliott
Publikováno v:
Genes
Genes, Vol 12, Iss 1133, p 1133 (2021)
Genes, Vol 12, Iss 1133, p 1133 (2021)
Chromodomain-helicase-DNA-binding protein 8 (CHD8) has been identified as one of the genes with the strongest association with autism. The CHD8 protein is a transcriptional regulator that is expressed in nearly all cell types and has been implicated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e0c6e23086b822034f6e428944b7ffd
http://europepmc.org/articles/PMC8393912
http://europepmc.org/articles/PMC8393912
Publikováno v:
Psychiatric Annals. 49:109-114
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by a heterogeneous constellation of deficits in social communication and reciprocity along with restrictive, repetitive patterns of behavior. ASD is among the most
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e58c227243c4ec75aa218e4c9c20c809
https://doi.org/10.3928/00485713-20190212-01
https://doi.org/10.3928/00485713-20190212-01
Autor:
Evan E. Eichler, Tychele N. Turner
Publikováno v:
Trends in Neurosciences. 42:115-127
Advances in sequencing technology have significantly expanded our understanding of the genetics of autism and neurodevelopmental disorders (NDDs). Continued technological improvements and cost reductions have now shifted the focus to investigations i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ed91525aaa84248f1748ef16e3e7536
https://doi.org/10.1016/j.tins.2018.11.002
https://doi.org/10.1016/j.tins.2018.11.002
Autor:
John J. Connolly, Hakon Hakonarson
Publikováno v:
Autism Spectrum Disorders: The Role of Genetics in Diagnosis and Treatment
Autism is a neurodevelopmental disorder of complex etiology and is amongst the most heritable of neuropsychiatric disorders while sharing genetic liability with other neurodevelopmental disorders such as intellectual disability (ID). Autism spectrum
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::603c6c8f8e32223c7c891376213e92d4
http://www.intechopen.com/articles/show/title/the-genetics-of-autism-spectrum-disorders
http://www.intechopen.com/articles/show/title/the-genetics-of-autism-spectrum-disorders
Publikováno v:
New Oxford Textbook of Psychiatry
A revolution in genetic technologies and methods, such as high-throughput DNA sequencing, has enabled significant progress in identifying mutations in Mendelian disorders and complex diseases. Given the tremendous clinical and genetic heterogeneity o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::727e50b2dffe8e54665a351b833acc32
https://doi.org/10.1093/med/9780198713005.003.0028
https://doi.org/10.1093/med/9780198713005.003.0028
Autor:
Kota Mizumoto, Catharine H. Rankin, Joseph Liang, Gregory P. Mullen, James B. Rand, Manuel Belmadani, Eleanor A. Mathews, Ardalan Hendi, Wan-Rong Wong, Paul Pavlidis, Troy A. McDiarmid, Kurt Haas, Fabian Meili
Publikováno v:
Proc Natl Acad Sci U S A
A major challenge facing the genetics of autism spectrum disorders (ASDs) is the large and growing number of candidate risk genes and gene variants of unknown functional significance. Here, we used Caenorhabditis elegans to systematically functionall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19dc7ca62b19d5aee2d8cf8840a49f34
https://resolver.caltech.edu/CaltechAUTHORS:20191122-111033277
https://resolver.caltech.edu/CaltechAUTHORS:20191122-111033277
Autor:
Barbara Gnidovec Stražišar, Sara Bertok, Luca Lovrečić, Maja Jekovec Vrhovšek, Marija Volk, Damjan Osredkar, Polona Rajar, Borut Peterlin
Publikováno v:
Journal of Applied Genetics. 59:179-185
Autism spectrum disorder (ASD) is a group of the neurodevelopment disorders presenting as an isolated ASD or more complex forms, where a broader clinical phenotype comprised of developmental delay and intellectual disability is present. Both the isol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18f453d8b04b4054d88239e5057a85a6
https://doi.org/10.1007/s13353-018-0440-y
https://doi.org/10.1007/s13353-018-0440-y