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Page 1
Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S, Szymańska K, Śmigiel R, Szczałuba K. Boniel S, et al. Genes (Basel). 2021 Mar 25;12(4):468. doi: 10.3390/genes12040468. Genes (Basel). 2021. PMID: 33805950 Free PMC article. Review.
Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the structures surrounding the eyes, a shortened and depressed nose, thinning of the upper lip and thickeni …
Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly de …
Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.
Wang YR, Xu NX, Wang J, Wang XM. Wang YR, et al. World J Pediatr. 2019 Dec;15(6):528-535. doi: 10.1007/s12519-019-00309-4. Epub 2019 Oct 5. World J Pediatr. 2019. PMID: 31587141 Review.
BACKGROUND: Kabuki syndrome (KS), is a infrequent inherited malformation syndrome caused by mutations in a H3 lysine 4 methylase (KMT2D) or an X-linked histone H3 lysine 27 demethylase (UTX/KDM6A). ...Given the significant clinical relevance of KS-associated genes a …
BACKGROUND: Kabuki syndrome (KS), is a infrequent inherited malformation syndrome caused by mutations in a H3 lysine 4 methyla …
Kabuki Syndrome.
Neumann D, Karnik R. Neumann D, et al. 2024 Jun 22. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. 2024 Jun 22. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. PMID: 38917269 Free Books & Documents.
Kabuki syndrome (KS; also known as Kabuki make-up syndrome and Niikawa-Kuroki syndrome) is a rare inherited genetic syndrome first diagnosed in Japan in 1981 and is caused by mutations in an H3 lysine 4 methylase (KMT2D) or an X-linked histone H3 lysine 27 demethyla …
Kabuki syndrome (KS; also known as Kabuki make-up syndrome and Niikawa-Kuroki syndrome) is a rare inherited genetic syndrome f …
Kabuki Syndrome.
Adam MP, Hannibal M. Adam MP, et al. 2011 Sep 1 [updated 2025 Mar 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2011 Sep 1 [updated 2025 Mar 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 21882399 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of the lateral third of the lower eyelid; arched and broad eyebrows; short columella with depressed nasal tip; large, prominent, or cupp …
CLINICAL CHARACTERISTICS: Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with evers …
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. 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
BACKGROUND: Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A. ...
BACKGROUND: Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in K …
From Genotype to Phenotype-A Review of Kabuki Syndrome.
Barry KK, Tsaparlis M, Hoffman D, Hartman D, Adam MP, Hung C, Bodamer OA. Barry KK, et al. Genes (Basel). 2022 Sep 29;13(10):1761. doi: 10.3390/genes13101761. Genes (Basel). 2022. PMID: 36292647 Free PMC article. Review.
Kabuki syndrome (KS) is a rare neuro-developmental disorder caused by variants in genes of histone modification, including KMT2D and KDM6A. ...
Kabuki syndrome (KS) is a rare neuro-developmental disorder caused by variants in genes of histone modification, including KMT …
Kabuki syndrome revisited.
Bokinni Y. Bokinni Y. J Hum Genet. 2012 Apr;57(4):223-7. doi: 10.1038/jhg.2012.28. Epub 2012 Mar 22. J Hum Genet. 2012. PMID: 22437206 Review.
Kabuki syndrome (KS) is a congenital syndrome with an estimated prevalence of 1 in 32 000. ...
Kabuki syndrome (KS) is a congenital syndrome with an estimated prevalence of 1 in 32 000. ...
Kabuki syndrome. A clinical approach.
Asensio Fierro F, Cabanillas Farpón R, Bernardo-Cofiño J. Asensio Fierro F, et al. Med Clin (Barc). 2022 Feb 25;158(4):194. doi: 10.1016/j.medcli.2021.05.021. Epub 2021 Jul 3. Med Clin (Barc). 2022. PMID: 34226058 English, Spanish. No abstract available.
Unmasking Kabuki syndrome.
Bögershausen N, Wollnik B. Bögershausen N, et al. Clin Genet. 2013 Mar;83(3):201-11. doi: 10.1111/cge.12051. Epub 2012 Nov 26. Clin Genet. 2013. PMID: 23131014 Review.
The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome (KS) has shed new light on the pathogenesis of this well-delineated condition consisting of a peculiar facial appearance, short stature, organ malformations and a v …
The identification of de novo dominant mutations in KMT2D (MLL2) as the main cause of Kabuki syndrome (KS) has shed new light …
Using Xenopus to analyze neurocristopathies like Kabuki syndrome.
Schwenty-Lara J, Pauli S, Borchers A. Schwenty-Lara J, et al. Genesis. 2021 Feb;59(1-2):e23404. doi: 10.1002/dvg.23404. Epub 2020 Dec 22. Genesis. 2021. PMID: 33351273 Review.
Here, we review a set of techniques and resources how Xenopus can be used as a disease model to investigate the pathogenesis of Kabuki syndrome and neurocristopathies in a wider sense....
Here, we review a set of techniques and resources how Xenopus can be used as a disease model to investigate the pathogenesis of Kabuki …
665 results