Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Daniel, H Geschwind"'
Autor:
Vidya Saravanapandian, Divya Nadkarni, Sheng-Hsiou Hsu, Shaun A. Hussain, Kiran Maski, Peyman Golshani, Christopher S. Colwell, Saravanavel Balasubramanian, Amos Dixon, Daniel H. Geschwind, Shafali S. Jeste
Publikováno v:
Molecular Autism, Vol 12, Iss 1, Pp 1-14 (2021)
Abstract Background Sleep disturbances in autism spectrum disorder (ASD) represent a common and vexing comorbidity. Clinical heterogeneity amongst these warrants studies of the mechanisms associated with specific genetic etiologies. Duplications of 1
Externí odkaz:
https://doaj.org/article/5f3b114f4fb34c64b3861c3193773ec2
Autor:
Aaron Gordon, Daniel H. Geschwind
Publikováno v:
Molecular Autism, Vol 11, Iss 1, Pp 1-18 (2020)
Abstract Early brain development is a critical epoch for the development of autism spectrum disorder (ASD). In vivo animal models have, until recently, been the principal tool used to study early brain development and the changes occurring in neurode
Externí odkaz:
https://doaj.org/article/59019caa5b06422d9a75896ed9691de2
Autor:
Catherine Fricano-Kugler, Aaron Gordon, Grace Shin, Kun Gao, Jade Nguyen, Jamee Berg, Mary Starks, Daniel H. Geschwind
Publikováno v:
Molecular Autism, Vol 10, Iss 1, Pp 1-16 (2019)
Abstract Background CYFIP1, a protein that interacts with FMRP and regulates protein synthesis and actin dynamics, is overexpressed in Dup15q syndrome as well as autism spectrum disorder (ASD). While CYFIP1 heterozygosity has been rigorously studied
Externí odkaz:
https://doaj.org/article/46e14b217a4b4ecdba118b22b5e13376
Publikováno v:
Molecular Autism
BackgroundAutism spectrum disorders (ASDs) are male-biased and genetically heterogeneous. While sequencing of sporadic cases has identifiedde novorisk variants, the heritable genetic contribution and mechanisms driving the male bias are less understo
Autor:
Ana Filipa Sequeira, Guiomar Oliveira, Cátia Café, Joana E. Coelho, Catarina Correia, Stephen W. Scherer, Bárbara Oliveira, Dalila Pinto, Inês Sousa, Joana Almeida, Inês C. Conceição, Kun Gao, Christian R. Marshall, Frederico Duque, Susan Walker, Wendy Roberts, Astrid M. Vicente, Daniel H. Geschwind, Jennifer K. Lowe, John I. Nurnberger, Bhooma Thiruvahindrapuram, Susana Mouga
Publikováno v:
Molecular Autism
Molecular autism, vol 5, iss 1
Molecular autism, vol 5, iss 1
Background Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlation
Autor:
Christa Lese Martin, Lambertus Klei, Timothy W. Yu, Daniel Moreno-De-Luca, Pauline Chaste, Nadine M. Melhem, Matthew W. State, Stephen Sanders, Dorothy E. Grice, Bernie Devlin, Eric M. Morrow, Michael T. Murtha, Kathryn Roeder, David H. Ledbetter, Christopher A. Walsh, Shrikant Mane, James S. Sutcliffe, Eric Fombonne, Vanessa Hus, A. Jeremy Willsey, Catherine Lord, Edwin H. Cook, Daniel H. Geschwind, Jennifer K. Lowe, Donna M. Martin
Publikováno v:
Molecular Autism
Molecular Autism, Vol 3, Iss 1, p 9 (2012)
Klei, Lambertus; Sanders, Stephan J; Murtha, Michael T; Hus, Vanessa; Lowe, Jennifer K; Willsey, A; et al.(2012). Common genetic variants, acting additively, are a major source of risk for autism. Molecular Autism, 3(1), 9. doi: http://dx.doi.org/10.1186/2040-2392-3-9. Retrieved from: http://www.escholarship.org/uc/item/69t016rz
Molecular Autism, Vol 3, Iss 1, p 9 (2012)
Klei, Lambertus; Sanders, Stephan J; Murtha, Michael T; Hus, Vanessa; Lowe, Jennifer K; Willsey, A; et al.(2012). Common genetic variants, acting additively, are a major source of risk for autism. Molecular Autism, 3(1), 9. doi: http://dx.doi.org/10.1186/2040-2392-3-9. Retrieved from: http://www.escholarship.org/uc/item/69t016rz
BackgroundAutism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While rare and especially de novo g