Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jameson Patak"'
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 183:289-305
Variations in SLC9A9 gene expression and protein function are associated with multiple human diseases, which range from Attention-deficit/hyperactivity disorder (ADHD) to glioblastoma multiforme. In an effort to determine the full spectrum of human d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af206cdb55e3bc3ce0bb3cc4e654556d
https://doi.org/10.1002/ajmg.b.32787
https://doi.org/10.1002/ajmg.b.32787
Autor:
Elizabeth C. Engle, Isabelle Thiffault, Fernando Santos-Simarro, Laura A Cross, Sha Tang, Eleina M. England, James Gilfert, Shivarajan M. Amudhavalli, Sixto García-Miñaur, Robert Roger Lebel, Jonathon Hess, Zöe Powis, Wendy Alcaraz, Jameson Patak, Melissa Byler, Brenda J. Barry, Vamsee K Neerukonda, Marta Pacio-Míguez, María Palomares-Bralo, Julie Jurgens
Publikováno v:
Clinical Genetics. 96:493-505
Pathogenic MAGEL2 variants result in the phenotypes of Chitayat-Hall syndrome (CHS), Schaaf-Yang syndrome (SYS) and Prader-Willi syndrome (PWS). We present five patients with mutations in MAGEL2, including the first patient reported with a missense v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::873fab4bf117b8d0e7afec72a1e537ad
https://doi.org/10.1111/cge.13620
https://doi.org/10.1111/cge.13620
Publikováno v:
Molecular Psychiatry
Large-scale brain imaging studies by the ENIGMA Consortium identified structural changes associated with attention-deficit/hyperactivity disorder (ADHD). It is not clear why some brain regions are impaired and others spared by the etiological risks f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3119f77b8ea424f64d9680102380454f
Genetically influenced changes in brain organization occur over the course of development. Large-scale brain imaging studies by the ENIGMA Consortium identified structural changes associated with attention-deficit/hyperactivity disorder (ADHD). It is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb4c7595d8285ac51ecdc54919526173
https://doi.org/10.1101/652792
https://doi.org/10.1101/652792
Publikováno v:
Molecular psychiatry
Sub-cortical volumetric differences were associated with attention-deficit/hyperactivity disorder (ADHD) in a recent multi-site, mega-analysis of 1713 ADHD persons and 1529 controls. As there was a wide range of effect sizes among the sub-cortical vo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b15eb314ba6fcf3a399bb9b7495f8a7a
https://pubmed.ncbi.nlm.nih.gov/29180674
https://pubmed.ncbi.nlm.nih.gov/29180674
Publikováno v:
Behavioural Brain Research. 269:103-114
Behavioral and genetic differences among Wistar-Kyoto (WKY) rats from different vendors and different breeders have long been observed, but generally overlooked. In our prior work, we found that two closely related WKY substrains, the WKY/NCrl and WK
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e9e55de4e3672aca4b8488e75f91278
https://doi.org/10.1016/j.bbr.2014.04.035
https://doi.org/10.1016/j.bbr.2014.04.035
Publikováno v:
Autism research : official journal of the International Society for Autism Research. 10(3)
SLC9A9 is a sodium hydrogen exchanger present in the recycling endosome and highly expressed in the brain. It is implicated in neuropsychiatric disorders, including autism spectrum disorders (ASDs). Little research concerning its gene expression patt
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::04bac5be2dd273834b7ce0040ad98c9b
https://pubmed.ncbi.nlm.nih.gov/27439572
https://pubmed.ncbi.nlm.nih.gov/27439572
Publikováno v:
Autism Research
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::53a6d6860b04989b152407e7299b3968