Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Aine Peoples"'
Publikováno v:
BMJ Case Rep
A 76-year-old, right-handed, Caucasian woman presented with influenza A and diarrhoea. Medical history includes trigeminal neuralgia, dyslipidaemia, hypertension and hypothyroidism. The patient’s regular medications included thyroxine, atenolol, at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9f10b16e264900fbb2a3824464fe553
https://pubmed.ncbi.nlm.nih.gov/32161084
https://pubmed.ncbi.nlm.nih.gov/32161084
Autor:
Jasper A. Estabillo, Roser Corominas, Hancheng Zheng, Amnon Koren, Natacha Akshoomoff, Athurva Gore, Christina Corsello, Dheeraj Malhotra, Jacob J. Michaelson, Steven A. McCarroll, Aine Peoples, Xin Jin, Abhishek Bhandari, Yingrui Li, Guan Ning Lin, Wenting Wu, Yujian Shi, Shuli Kang, Madhusudan Gujral, Guangming Liu, Balvindar Singh, Jonathan Sebat, Minghan Jian, Kun Zhang, Douglas S. Greer, Jun Wang, Therese E. Gadomski, Lilia M. Iakoucheva
Publikováno v:
Cell. 151(7)
SummaryDe novo mutation plays an important role in autism spectrum disorders (ASDs). Notably, pathogenic copy number variants (CNVs) are characterized by high mutation rates. We hypothesize that hypermutability is a property of ASD genes and may also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::470381215d0b4e36226c24a367f85885
https://pubmed.ncbi.nlm.nih.gov/23260131
https://pubmed.ncbi.nlm.nih.gov/23260131
Autor:
Vladimir Vacic, Paul A. Insel, Shane McCarthy, Aine Peoples, Jon McClellan, Derek W. Morris, Deborah L. Levy, Maria Karayiorgou, Roser Corominas, Michael Gill, Seungtai Yoon, Aiden Corvin, Fiona Murray, Dheeraj Malhotra, Jonathan Sebat, Abhishek Bhandari, Suzanne M. Leal, Olga Krastoshevsky, Mary Claire King, Elliot S. Gershon, Verãnica Larach-Walters, Hsun Hua Chou, Verena Krause, Marie L. Dell’ Aquila, David K. Welsh, Lynn E. DeLisi, John R. Kelsoe, Vladimir Makarov, Lilia M. Iakoucheva, David Craig
Publikováno v:
Nature
Vacic, V; McCarthy, S; Malhotra, D; Murray, F; Chou, HH; Peoples, A; et al.(2011). Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature, 471(7339), 499-503. doi: 10.1038/nature09884. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/74v6h1q8
Nature, vol 471, iss 7339
Vacic, V; McCarthy, S; Malhotra, D; Murray, F; Chou, HH; Peoples, A; et al.(2011). Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia. Nature, 471(7339), 499-503. doi: 10.1038/nature09884. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/74v6h1q8
Nature, vol 471, iss 7339
Rare copy number variants (CNVs) have a prominent role in the aetiology of schizophrenia and other neuropsychiatric disorders. Substantial risk for schizophrenia is conferred by large (>500-kilobase) CNVs at several loci, including microdeletions at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::857ea649b3811ae7528550174af0d847
https://pubmed.ncbi.nlm.nih.gov/21430769
https://pubmed.ncbi.nlm.nih.gov/21430769
Autor:
Abhishek Bhandari, Marie L. Dell’ Aquila, Aiden Corvin, Suzanne M. Leal, Maria Karayiorgou, Shane A. McCarthy, Roser Corominas, Lynn E. DeLisi, Jonathan Sebat, Dheeraj Malhotra, Deborah L. Levy, David K. Welsh, Verena Krause, John R. Kelsoe, Olga Krastoshevsky, Derek W. Morris, Vladimir Makarov, Lilia M. Iakoucheva, Paul A. Insel, Michael Gill, Elliot S. Gershon, Vladimir Vacic, Seungtai Yoon, Fiona Murray, Hsun Hua Chou, David Craig, Veronica Larach-Walters, Aine Peoples, Jon McClellan, Mary Claire King
Publikováno v:
Nature. 474:114-114
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b37a17d05eb16a9a546c976513808fe3
https://doi.org/10.1038/nature10088
https://doi.org/10.1038/nature10088