Výsledky vyhledávání - "Kirsten Donato"

Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome

Autor: Soma Das, Jennifer A. Lee, Amy K. Johnson, Jennifer Burton, Sandra Tremblay, Ying Ying Hu, Daniela del Gaudio, Kirsten Donato, Daniel B. Magner, Zejuan Li, Sarah E. Noon, Ian D. Krantz, Rachel Laframboise, Brett Deml, Jacea Deml, George E. Hoganson, Christian P. Schaaf, Maria Helgeson, Jennifer Keller-Ramey

Publikováno v: Journal of Human Genetics. 63:349-356

Cornelia de Lange syndrome (CdLS) is a rare neurodevelopmental syndrome for which mutations in five causative genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex, account for ~70% of cases. Herein we report on four f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7987cd68c6efe8bfa8eb3f74b5d1342d
https://doi.org/10.1038/s10038-017-0387-6

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Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case

Autor: Latrice Wysinger, Soma Das, Marwan Shinawi, Christopher A. Tan, Agata Minor, Damara R. Hamlin, Shaun Botes, Kirsten Donato, Marisa Vineyard, Jacob S. Hogue, Daniela del Gaudio

Publikováno v: Gene. 537(2)

Cornelia de Lange syndrome (CdLS) is a developmental disorder characterized by limb reduction defects, characteristic facial features and impaired cognitive development. Mutations in the NIPBL gene predominate; however, mutations in other cohesin com

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3db3f5d13ff70697dc39257755d0f8b
https://pubmed.ncbi.nlm.nih.gov/24378232

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