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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1993 1
1994 2
1995 3
1996 3
1997 6
1998 4
1999 5
2000 6
2001 9
2002 8
2003 9
2004 13
2005 23
2006 18
2007 13
2008 20
2009 13
2010 23
2011 26
2012 24
2013 27
2014 29
2015 24
2016 35
2017 30
2018 39
2019 53
2020 46
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2022 55
2023 53
2024 29

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607 results

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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). ...The main pathogenesis of Kabuki syndrome is the imb …
BACKGROUND: Kabuki syndrome (KS), is a infrequent inherited malformation syndrome caused by mutations in a H3 lysine 4 methyla …
Kabuki Syndrome.
Adam MP, Hudgins L, Hannibal M. Adam MP, et al. 2011 Sep 1 [updated 2024 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2011 Sep 1 [updated 2024 Apr 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 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. ...
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 …
Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.
Shangguan H, Su C, Ouyang Q, Cao B, Wang J, Gong C, Chen R. Shangguan H, et al. Orphanet J Rare Dis. 2019 Nov 14;14(1):255. doi: 10.1186/s13023-019-1219-x. Orphanet J Rare Dis. 2019. PMID: 31727177 Free PMC article. Review.
OBJECTIVE: This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients. METHODS: Blood samples were collected for whole-exome sequencing (WES) for 7 pa …
OBJECTIVE: This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectru …
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.
607 results