PubMed for id: 340300

Year	Number of Results
1975	6
1976	1
1977	1
1978	3
1979	2
1981	3
1982	2
1984	1
1985	1
1986	3
1987	6
1988	1
1989	3
1990	4
1991	7
1992	4
1993	5
1994	5
1995	4
1996	3
1997	6
1998	6
1999	4
2000	4
2001	6
2002	5
2003	6
2004	18
2005	7
2006	7
2007	11
2008	12
2009	10
2010	9
2011	9
2012	17
2013	14
2014	12
2015	8
2016	12
2017	11
2018	13
2019	8
2020	8
2021	11
2022	9
2023	8
2024	8

1

Hearing characteristics and otoradiological abnormalities in three patients with novel pathogenic variants of KMT2D-related Kabuki syndrome.

Zheng Z, Ding L, Wang M, Zhang Y, Yang Y, Tang M, Xu J, Wang L, Wu J, Li H. Zheng Z, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2306. doi: 10.1002/mgg3.2306. Epub 2023 Nov 3. Mol Genet Genomic Med. 2024. PMID: 37921229 Free PMC article.

2

A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome.

Nerakh G, Vasikarla M. Nerakh G, et al. Brain Dev. 2023 Oct;45(9):512-516. doi: 10.1016/j.braindev.2023.06.008. Epub 2023 Jul 12. Brain Dev. 2023. PMID: 37451886

3

Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.

Merdler-Rabinowicz R, Prat D, Pode-Shakked B, Abel G, Chorin O, Somech R, Raas-Rothschild A. Merdler-Rabinowicz R, et al. Eur J Med Genet. 2021 Jun;64(6):104210. doi: 10.1016/j.ejmg.2021.104210. Epub 2021 Mar 30. Eur J Med Genet. 2021. PMID: 33794347

4

The First Case Report of Kabuki Syndrome from the National Iranian Registry of Primary Immunodeficiencies.

Safarirad M, Ganji AA, Fekrvand S, Yazdani R, Motlagh AV, Abolhassani H, Aghamohammadi A. Safarirad M, et al. Endocr Metab Immune Disord Drug Targets. 2021;21(11):2099-2103. doi: 10.2174/1871530321666210114153920. Endocr Metab Immune Disord Drug Targets. 2021. PMID: 33459250

5

Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.

Gangfuß A, Yigit G, Altmüller J, Nürnberg P, Czeschik JC, Wollnik B, Bögershausen N, Burfeind P, Wieczorek D, Kaiser F, Roos A, Kölbel H, Schara-Schmidt U, Kuechler A. Gangfuß A, et al. Am J Med Genet A. 2021 Apr;185(4):1216-1221. doi: 10.1002/ajmg.a.62070. Epub 2021 Jan 11. Am J Med Genet A. 2021. PMID: 33427397

6

Phenotypic expansion of KMT2D-related disorder: Beyond Kabuki syndrome.

Baldridge D, Spillmann RC, Wegner DJ, Wambach JA, White FV, Sisco K, Toler TL, Dickson PI, Cole FS, Shashi V, Grange DK. Baldridge D, et al. Am J Med Genet A. 2020 May;182(5):1053-1065. doi: 10.1002/ajmg.a.61518. Epub 2020 Feb 21. Am J Med Genet A. 2020. PMID: 32083401 Free PMC article.

7

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

8

[Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome].

Wang HM, Wang XH, Wu HS, Wu Y, Zhuo XW. Wang HM, et al. Zhonghua Er Ke Za Zhi. 2018 Nov 2;56(11):846-849. doi: 10.3760/cma.j.issn.0578-1310.2018.11.010. Zhonghua Er Ke Za Zhi. 2018. PMID: 30392209 Chinese.

9

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.

Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM; Care for Rare Canada Consortium. Au PYB, et al. Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2. Epub 2018 Jun 14. Eur J Hum Genet. 2018. PMID: 29904177 Free PMC article. Review.

10

Phenotype expansion and development in Kosaki overgrowth syndrome.

Gawliński P, Pelc M, Ciara E, Jhangiani S, Jurkiewicz E, Gambin T, Różdżyńska-Świątkowska A, Dawidziuk M, Coban-Akdemir ZH, Guilbride DL, Muzny D, Lupski JR, Krajewska-Walasek M. Gawliński P, et al. Clin Genet. 2018 Apr;93(4):919-924. doi: 10.1111/cge.13192. Clin Genet. 2018. PMID: 29226947

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