Zobrazeno 1 - 10
of 114
pro vyhledávání: '"Schanen, N. Carolyn"'
Publikováno v:
In Neurobiology of Disease 2010 38(2):181-191
Publikováno v:
In The American Journal of Human Genetics 2004 75(2):267-281
Autor:
Liu Dahai, Dorrani Naghmeh, Driscoll Jennette, Wang Nicholas J, Wu David J, Sigman Marian, Schanen N Carolyn
Publikováno v:
Molecular Cytogenetics, Vol 2, Iss 1, p 27 (2009)
Abstract Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15. Here we describe a boy with a chromosome 15 duplication arising from a 3:1 segre
Externí odkaz:
https://doaj.org/article/ac4c8752f4b842bcba348ed65013a481
Autor:
Sigman Marian, Dorrani Naghmeh, Malone Barbara M, Driscoll Jennette, Thatcher Karen N, Parokonny Alexander S, Wang Nicholas J, LaSalle Janine M, Schanen N Carolyn
Publikováno v:
BMC Genetics, Vol 9, Iss 1, p 2 (2008)
Abstract Background Maternally-derived duplications that include the imprinted region on the proximal long arm of chromosome 15 underlie a complex neurobehavioral disorder characterized by cognitive impairment, seizures and a substantial risk for aut
Externí odkaz:
https://doaj.org/article/45a85184f9744731b50cf5148f94fef8
Autor:
Wan, Mimi, Lee, Stephen Sung Jae, Zhang, Xianyu, Houwink-Manville, Isa, Song, Hae-Ri, Amir, Ruthie E., Budden, Sarojini, Naidu, SakkuBai, Pereira, Jose Luiz P., Lo, Ivan F.M., Zoghbi, Huda Y., Schanen, N. Carolyn, Francke, Uta
Publikováno v:
In The American Journal of Human Genetics 1999 65(6):1520-1529
Autor:
Pitcher, Meagan R, Herrera, José A, Buffington, Shelly A, Kochukov, Mikhail Y, Merritt, Jonathan K, Fisher, Amanda R, Schanen, N Carolyn, Costa-Mattioli, Mauro, Neul, Jeffrey L
Publikováno v:
Pitcher, MR; Herrera, JA; Buffington, SA; Kochukov, MY; Merritt, JK; Fisher, AR; et al.(2015). Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene. Human Molecular Genetics, 24(9), 2662-2672. doi: 10.1093/hmg/ddv030. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/4hm9n3xs
Human molecular genetics, vol 24, iss 9
Human molecular genetics, vol 24, iss 9
© The Author 2015. Rett syndrome (RTT) is a severe neurodevelopmental disorder that is usually caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). Four of the eight common disease causing mutations in MECP2 are nonsense mutations and are re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::eac5b8c1dd5eb247d3f169ea70d1e3d0
http://www.escholarship.org/uc/item/4hm9n3xs
http://www.escholarship.org/uc/item/4hm9n3xs
Publikováno v:
In The Journal of Pediatrics 2005 146(6):843-844
Autor:
Wegiel, Jerzy, Schanen, N. Carolyn, Cook, Edwin H., Brown, W. Ted, Kuchna, Izabela, Nowicki, Krzysztof, Wegiel, Jarek, Imaki, Humi, Ma, Shuang Yong, London, Eric, Wisniewski, Thomas
Publikováno v:
In The Neuroscience of Autism Spectrum Disorders 2013:347-359
Autor:
Wang, Nicholas J, Parokonny, Alexander S, Thatcher, Karen N, Driscoll, Jennette, Malone, Barbara M, Dorrani, Naghmeh, Sigman, Marian, LaSalle, Janine M, Schanen, N Carolyn
Publikováno v:
BMC genetics, vol 9, iss 1
BackgroundMaternally-derived duplications that include the imprinted region on the proximal long arm of chromosome 15 underlie a complex neurobehavioral disorder characterized by cognitive impairment, seizures and a substantial risk for autism spectr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ba756a7cc7eb46b75697af23c073a076
https://escholarship.org/uc/item/9j18621w
https://escholarship.org/uc/item/9j18621w
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