Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jill Kirschen"'
Autor:
Rebecca A Nebel, Dejian Zhao, Erika Pedrosa, Jill Kirschen, Herbert M Lachman, Deyou Zheng, Brett S Abrahams
Publikováno v:
PLoS ONE, Vol 11, Iss 1, p e0148039 (2016)
Deletions encompassing the BP1-2 region at 15q11.2 increase schizophrenia and epilepsy risk, but only some carriers have either disorder. To investigate the role of CYFIP1, a gene within the region, we performed knockdown experiments in human neural
Externí odkaz:
https://doaj.org/article/55bea247348547548938efc73f97c021
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0129270 (2015)
Microcephaly and macrocephaly are overrepresented in individuals with autism and are thought to be disease-related risk factors or endophenotypes. Analysis of DNA microarray results from a family with a low functioning autistic child determined that
Externí odkaz:
https://doaj.org/article/ac99d5d4cd714fafb7cc216885865f9b
Autor:
Esther R Berko, Masako Suzuki, Faygel Beren, Christophe Lemetre, Christine M Alaimo, R Brent Calder, Karen Ballaban-Gil, Batya Gounder, Kaylee Kampf, Jill Kirschen, Shahina B Maqbool, Zeineen Momin, David M Reynolds, Natalie Russo, Lisa Shulman, Edyta Stasiek, Jessica Tozour, Maria Valicenti-McDermott, Shenglong Wang, Brett S Abrahams, Joseph Hargitai, Dov Inbar, Zhengdong Zhang, Joseph D Buxbaum, Sophie Molholm, John J Foxe, Robert W Marion, Adam Auton, John M Greally
Publikováno v:
PLoS Genetics, Vol 10, Iss 5, p e1004402 (2014)
DNA mutational events are increasingly being identified in autism spectrum disorder (ASD), but the potential additional role of dysregulation of the epigenome in the pathogenesis of the condition remains unclear. The epigenome is of interest as a pos
Externí odkaz:
https://doaj.org/article/a803dd8795744243ae732bdcac7b9739
Autor:
Jill Kirschen, Tao Wang, Rebecca A. Nebel, Claudia Bagni, Parisa Hemati, Young Jae Woo, Brett S. Abrahams, Alexandros K. Kanellopoulos
Publikováno v:
Biol Psychiatry
Background Deletions encompassing a four-gene region on chromosome 15 (BP1-BP2 at 15q11.2), seen at a population frequency of 1 in 500, are associated with increased risk for schizophrenia, epilepsy, and other common neurodevelopmental disorders. How
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5ca6d96d6432e46cca7e7f83adebb96
https://europepmc.org/articles/PMC6679746/
https://europepmc.org/articles/PMC6679746/
Publikováno v:
PLoS ONE
PLoS ONE, Vol 10, Iss 6, p e0129270 (2015)
PLoS ONE, Vol 10, Iss 6, p e0129270 (2015)
Microcephaly and macrocephaly are overrepresented in individuals with autism and are thought to be disease-related risk factors or endophenotypes. Analysis of DNA microarray results from a family with a low functioning autistic child determined that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7fe23136555c409636c927b278e909
https://pubmed.ncbi.nlm.nih.gov/26076356
https://pubmed.ncbi.nlm.nih.gov/26076356
Publikováno v:
The Journal of Urology. :1681-1686
Purpose: We identified potential predictors, a high risk period and reasons for attrition, as well as the therapeutic alternatives chosen by men who discontinued intracavernous injection.Materials and Methods: After patients had followed the protocol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05817d0365aff92175e6fa5c57baf275
https://doi.org/10.1097/00005392-199705000-00045
https://doi.org/10.1097/00005392-199705000-00045
Autor:
Dejian Zhao, Jill Kirschen, Herbert M. Lachman, Rebecca A. Nebel, Brett S. Abrahams, Deyou Zheng, Erika Pedrosa
Publikováno v:
PLoS ONE
PLoS ONE, Vol 11, Iss 1, p e0148039 (2016)
PLoS ONE, Vol 11, Iss 1, p e0148039 (2016)
Deletions encompassing the BP1-2 region at 15q11.2 increase schizophrenia and epilepsy risk, but only some carriers have either disorder. To investigate the role of CYFIP1, a gene within the region, we performed knockdown experiments in human neural
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bf90f9dc78d3f42b0ac910071002b98
https://doi.org/10.1371/journal.pone.0148039
https://doi.org/10.1371/journal.pone.0148039
Autor:
Sophie Molholm, Zeineen Momin, Joseph D. Buxbaum, Karen Ballaban-Gil, Faygel Beren, Dov Inbar, Joseph Hargitai, John J. Foxe, Adam Auton, Masako Suzuki, Zhengdong D. Zhang, Jill Kirschen, Christophe Lemetre, John M. Greally, Robert W. Marion, David Reynolds, Maria Valicenti-McDermott, Brett S. Abrahams, Batya Gounder, Natalie Russo, Shahina Maqbool, Shenglong Wang, Jessica Tozour, Edyta Stasiek, Christine M. Alaimo, Kaylee Kampf, Lisa H. Shulman, R. Brent Calder, Esther R. Berko
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 10, Iss 5, p e1004402 (2014)
PLoS Genetics, Vol 10, Iss 5, p e1004402 (2014)
DNA mutational events are increasingly being identified in autism spectrum disorder (ASD), but the potential additional role of dysregulation of the epigenome in the pathogenesis of the condition remains unclear. The epigenome is of interest as a pos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::077f60a0fba2df600217b78b6f6989b5
https://doi.org/10.1371/journal.pgen.1004402
https://doi.org/10.1371/journal.pgen.1004402