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A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome.
Benjamin JS, Pilarowski GO, Carosso GA, Zhang L, Huso DL, Goff LA, Vernon HJ, Hansen KD, Bjornsson HT. Benjamin JS, et al. Among authors: bjornsson ht. Proc Natl Acad Sci U S A. 2017 Jan 3;114(1):125-130. doi: 10.1073/pnas.1611431114. Epub 2016 Dec 20. Proc Natl Acad Sci U S A. 2017. PMID: 27999180 Free PMC article.
Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.
Pilarowski GO, Vernon HJ, Applegate CD, Boukas L, Cho MT, Gurnett CA, Benke PJ, Beaver E, Heeley JM, Medne L, Krantz ID, Azage M, Niyazov D, Henderson LB, Wentzensen IM, Baskin B, Sacoto MJG, Bowman GD, Bjornsson HT. Pilarowski GO, et al. Among authors: bjornsson ht. J Med Genet. 2018 Aug;55(8):561-566. doi: 10.1136/jmedgenet-2017-104759. Epub 2017 Sep 2. J Med Genet. 2018. PMID: 28866611 Free PMC article.
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
Sobreira N, Brucato M, Zhang L, Ladd-Acosta C, Ongaco C, Romm J, Doheny KF, Mingroni-Netto RC, Bertola D, Kim CA, Perez AB, Melaragno MI, Valle D, Meloni VA, Bjornsson HT. Sobreira N, et al. Among authors: bjornsson ht. Eur J Hum Genet. 2017 Dec;25(12):1335-1344. doi: 10.1038/s41431-017-0023-0. Epub 2017 Nov 7. Eur J Hum Genet. 2017. PMID: 29255178 Free PMC article.
Kabuki syndrome: international consensus diagnostic criteria.
Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, Kawame H, Lanpher BC, Lindsley AW, Merla G, Miyake N, Okamoto N, Stumpel CT, Niikawa N; Kabuki Syndrome Medical Advisory Board. Adam MP, et al. Among authors: bjornsson ht. J Med Genet. 2019 Feb;56(2):89-95. doi: 10.1136/jmedgenet-2018-105625. Epub 2018 Dec 4. J Med Genet. 2019. PMID: 30514738
75 results