Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Mark N. Ziats"'
Autor:
Owen M. Rennert, Mark N. Ziats
Publikováno v:
Frontiers in Neurology, Vol 8 (2017)
Externí odkaz:
https://doaj.org/article/51d7df96b0284f0e9151ef0bd3ec4f05
Functional genomics analysis of Phelan-McDermid syndrome 22q13 region during human neurodevelopment.
Autor:
Catherine A Ziats, Luke P Grosvenor, Sara M Sarasua, Audrey E Thurm, Susan E Swedo, Ahmed Mahfouz, Owen M Rennert, Mark N Ziats
Publikováno v:
PLoS ONE, Vol 14, Iss 3, p e0213921 (2019)
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, severely delayed language development and specific facial features, and is caused by a deletion within chromosome 22q13.3. SH
Externí odkaz:
https://doaj.org/article/1bde7c760a064fb3a1eae980e5ebd04f
Autor:
Megan Glassford, Jeffrey W. Innis, Donna M. Martin, Shane C. Quinonez, John A. Bernat, Stephanie L. Bielas, Rachel Fisher, Ayesha Ahmad, Catherine E. Keegan, Mark N. Ziats, Lauren Turner, Nicholas L Harris, Lauren Seemann, Tessa B Marzulla, Jacob D Ogle, Mark C. Hannibal, Natasha E. Weiser, Kristen N. Lee, Joseph E. Jacher, Bridget C. O’Connor
Publikováno v:
Pediatric research
BACKGROUND As clinical exome sequencing (CES) becomes more common, understanding which patients are most likely to benefit and in what manner is critical for the general pediatrics community to appreciate. METHODS Five hundred and twenty-three patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a8dc2c7b352111b242e0b8cc8789c8e
http://europepmc.org/articles/PMC7082194
http://europepmc.org/articles/PMC7082194
Publikováno v:
Pediatric Neurology. 98:46-52
Background The current classification system of neurodevelopmental disorders is based on clinical criteria; however, this method alone fails to incorporate what is now known about genomic similarities and differences between closely related clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c071268ca0a6d361f08f16b464e62bf7
https://doi.org/10.1016/j.pediatrneurol.2019.05.004
https://doi.org/10.1016/j.pediatrneurol.2019.05.004
Publikováno v:
Molecular Genetics and Metabolism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84f06764ea2eed60c27e56f14a6b6217
http://europepmc.org/articles/PMC8032403
http://europepmc.org/articles/PMC8032403
Autor:
Christian P. Schaaf, Arthur L. Beaudet, Qin Sun, Yaping Yang, Fernando Scaglia, Sarah H. Elsea, Mathew S. Comeaux, Mark N. Ziats
Publikováno v:
American Journal of Medical Genetics Part A. 167:2162-2167
Disorders of carnitine biosynthesis have recently been associated with neurodevelopmental syndromes such as autism spectrum disorder (ASD). A 4-year-old male with autism and two episodes of neurodevelopmental regression was identified to have a mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2fa63413be4830d6dde8f9608381a24
https://doi.org/10.1002/ajmg.a.37144
https://doi.org/10.1002/ajmg.a.37144
Autor:
Luke P. Grosvenor, Audrey Thurm, Ahmed Mahfouz, Sara M. Sarasua, Catherine A. Ziats, Owen M. Rennert, Susan E. Swedo, Mark N. Ziats
Publikováno v:
PLoS ONE, Vol 14, Iss 3, p e0213921 (2019)
PLoS ONE, 14(3)
PLoS ONE
PLoS ONE, 14(3)
PLoS ONE
Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by varying degrees of intellectual disability, severely delayed language development and specific facial features, and is caused by a deletion within chromosome 22q13.3. SH
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::693d38f06052010a392c5cde63c2eba9
https://doi.org/10.1371/journal.pone.0213921
https://doi.org/10.1371/journal.pone.0213921
Autor:
Stephanie Chou, Showming Kwok, Mriganka Sur, Carl Ernst, Nikolaos Mellios, Steven D. Sheridan, Danielle A. Feldman, Stephen K. Amoah, Yun Li, Benjamin Crawford, Jacque P.K. Ip, Stephen J. Haggarty, Radha Swaminathan, Mark N. Ziats, Bess P. Rosen, Rudolf Jaenisch, Brian A. Rodriguez
Publikováno v:
Molecular psychiatry
Rett syndrome (RTT) is an X-linked, neurodevelopmental disorder caused primarily by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes a multifunctional epigenetic regulator with known links to a wide spectrum of neuropsychiatr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e19ff439919f07c786ed0558a85f0a6b
https://pubmed.ncbi.nlm.nih.gov/28439102
https://pubmed.ncbi.nlm.nih.gov/28439102
Autor:
Emilie Campanac, Lu Yang, Lucile Canterel-Thouennon, Kwok-Pui Fung, Alan Lap-Yin Pang, Wai-Yee Chan, Margarita Raygada, Audrey Thurm, Tin-Lap Lee, Dax A. Hoffman, Mark N. Ziats, Hoi-Hung Cheung, Xiaozhuo Liu, Susan E. Swedo, Owen M. Rennert, Vanessa Baxendale
Autism spectrum disorder is a complex neurodevelopmental disorder whose pathophysiology remains elusive as a consequence of the unavailability for study of patient brain neurons; this deficit may potentially be circumvented by neural differentiation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5619af719a24771cc2478a07724d1cad
https://europepmc.org/articles/PMC5199629/
https://europepmc.org/articles/PMC5199629/
Autor:
Mark N. Ziats, Owen M. Rennert
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 7 (2016)
Frontiers in Genetics, Vol 7 (2016)
The autism spectrum disorders (ASD) are a heterogeneous set of neurodevelopmental syndromes defined by impairments in verbal and non-verbal communication, restricted social interaction, and the presence of stereotyped patterns of behavior. The preval
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4e72568703aaee7b8c0d6ebec38498a
https://pubmed.ncbi.nlm.nih.gov/27200076
https://pubmed.ncbi.nlm.nih.gov/27200076