Zobrazeno 1 - 4
of 4
pro vyhledávání: '"D. B. Everman"'
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities
Autor:
Carrie Hanscom, A Chaubey, Cynthia C. Morton, Sarah H. Elsea, Cynthia M. Powell, C Tapp, R C Rogers, H M Kearney, Tomi L. Toler, Elyse Mitchell, Steven A. Skinner, Vamsee Pillalamarri, Sureni V. Mullegama, Wen-Hann Tan, Y S Zou, E Boyd, Salman Kirmani, Angela E. Lin, B DuPont, F Bartel, R R Hanson, Jennelle C. Hodge, Michael E. Talkowski, Debra J Keelean-Fuller, James F. Gusella, D B Everman
Publikováno v:
Molecular Psychiatry. 19:368-379
Microdeletions of chromosomal region 2q23.1 that disrupt MBD5 (methyl-CpG-binding domain protein 5) contribute to a spectrum of neurodevelopmental phenotypes; however, the impact of this locus on human psychopathology has not been fully explored. To
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7fcec05a17adb4e785e5f09735d141e
https://doi.org/10.1038/mp.2013.42
https://doi.org/10.1038/mp.2013.42
Autor:
Y A, Zarate, L, Kalsner, A, Basinger, J R, Jones, C, Li, M, Szybowska, Z L, Xu, S, Vergano, A R, Caffrey, C V, Gonzalez, H, Dubbs, E, Zackai, F, Millan, A, Telegrafi, B, Baskin, R, Person, J L, Fish, D B, Everman
Publikováno v:
Clinical genetics. 92(4)
SATB2-associated syndrome (SAS) is a multisystemic disorder caused by alterations of the SATB2 gene. We describe the phenotype and genotype of 12 individuals with 10 unique (de novo in 11 of 11 tested) pathogenic variants (1 splice site, 5 frameshift
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::853d7cf5e0aba0176af24c01d422ecf9
https://pubmed.ncbi.nlm.nih.gov/28139846
https://pubmed.ncbi.nlm.nih.gov/28139846
Publikováno v:
Clinical genetics. 69(4)
Lacrimo-auriculo-dento-digital syndrome [LADD (MIM 149730)] is an autosomal-dominant multiple congenital anomaly disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d60dcd25ac5817bec928d3495eefd973
https://pubmed.ncbi.nlm.nih.gov/16630169
https://pubmed.ncbi.nlm.nih.gov/16630169
Autor:
D. B. Everman, N. H. Robin
Publikováno v:
Pediatrics in review. 19(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60d3cbe5cfed197cbab51323f3fe969a
https://pubmed.ncbi.nlm.nih.gov/9557061
https://pubmed.ncbi.nlm.nih.gov/9557061