References analysis of the Wikipedia article "Kabuki syndrome" in the English version

doi.org

Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, et al. (September 2010). "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome". Nature Genetics. 42 (9): 790–793. doi:10.1038/ng.646. PMC 2930028. PMID 20711175.

Kuroki Y, Suzuki Y, Chyo H, Hata A, Matsui I (October 1981). "A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation". The Journal of Pediatrics. 99 (4): 570–573. doi:10.1016/S0022-3476(81)80256-9. PMID 7277097.

Vaux KK, Jones KL, Jones MC, Schelley S, Hudgins L (January 2005). "Developmental outcome in Kabuki syndrome". American Journal of Medical Genetics. Part A. 132A (3): 263–264. doi:10.1002/ajmg.a.30338. PMID 15523636. S2CID 32831210.

Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, et al. (April 2012). "How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum". European Journal of Human Genetics. 20 (4): 381–388. doi:10.1038/ejhg.2011.220. PMC 3306863. PMID 22126750.

Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, et al. (July 2011). "Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome". American Journal of Medical Genetics. Part A. 155A (7): 1511–1516. doi:10.1002/ajmg.a.34074. PMC 3121928. PMID 21671394.

Adam MP, Banka S, Bjornsson HT, Bodamer O, Chudley AE, Harris J, et al. (February 2019). "Kabuki syndrome: international consensus diagnostic criteria". Journal of Medical Genetics. 56 (2): 89–95. doi:10.1136/jmedgenet-2018-105625. PMID 30514738. S2CID 54484060.

Bögershausen N, Wollnik B (March 2013). "Unmasking Kabuki syndrome". Clinical Genetics. 83 (3): 201–211. doi:10.1111/cge.12051. PMID 23131014. S2CID 204999137.

Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, et al. (January 2012). "Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome". American Journal of Human Genetics. 90 (1): 119–124. doi:10.1016/j.ajhg.2011.11.021. PMC 3257878. PMID 22197486.

Banka S, Lederer D, Benoit V, Jenkins E, Howard E, Bunstone S, et al. (March 2015). "Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)". Clinical Genetics. 87 (3): 252–258. doi:10.1111/cge.12363. PMID 24527667. S2CID 19578396.

Faundes V, Goh S, Akilapa R, Bezuidenhout H, Bjornsson HT, Bradley L, et al. (July 2021). "Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2". Genetics in Medicine. 23 (7): 1202–1210. doi:10.1038/s41436-021-01119-8. PMC 8257478. PMID 33674768.

Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T (October 1981). "Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency". The Journal of Pediatrics. 99 (4): 565–569. doi:10.1016/S0022-3476(81)80255-7. PMID 7277096.

Wilson GN (September 1998). "Thirteen cases of Niikawa-Kuroki syndrome: report and review with emphasis on medical complications and preventive management". American Journal of Medical Genetics. 79 (2): 112–120. doi:10.1002/(SICI)1096-8628(19980901)79:2<112::AID-AJMG7>3.0.CO;2-S. PMID 9741469.

Schrander-Stumpel CT, Spruyt L, Curfs LM, Defloor T, Schrander JJ (January 2005). "Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management". American Journal of Medical Genetics. Part A. 132A (3): 234–243. doi:10.1002/ajmg.a.30331. PMID 15690368. S2CID 42186309.

Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, et al. (January 2005). "Further delineation of Kabuki syndrome in 48 well-defined new individuals". American Journal of Medical Genetics. Part A. 132A (3): 265–272. doi:10.1002/ajmg.a.30340. PMID 15690370. S2CID 27626946.

Aref-Eshghi, Erfan; Schenkel, Laila C.; Lin, Hanxin; Skinner, Cindy; Ainsworth, Peter; Paré, Guillaume; Rodenhiser, David; Schwartz, Charles; Sadikovic, Bekim (2017-11-02). "The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance". Epigenetics. 12 (11): 923–933. doi:10.1080/15592294.2017.1381807. ISSN 1559-2294. PMC 5788422. PMID 28933623.

Long A, Sinkovskaya ES, Edmondson AC, Zackai E, Schrier Vergano SA (December 2016). "Kabuki syndrome as a cause of non-immune fetal hydrops/ascites". American Journal of Medical Genetics. Part A. 170 (12): 3333–3337. doi:10.1002/ajmg.a.37956. PMID 27568880. S2CID 26914645.

Lajeunesse C, Stadler A, Trombert B, Varlet MN, Patural H, Prieur F, Chêne G (June 2014). "[First-trimester cystic hygroma: prenatal diagnosis and fetal outcome]". Journal de Gynécologie, Obstétrique et Biologie de la Reproduction. 43 (6): 455–462. doi:10.1016/j.jgyn.2013.04.005. PMID 23747217.

Matsumoto N, Niikawa N (February 2003). "Kabuki make-up syndrome: a review". American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 117C (1): 57–65. doi:10.1002/ajmg.c.10020. PMID 12561059. S2CID 39599820.

Ng, Sarah B; Bigham, Abigail W; Buckingham, Kati J; Hannibal, Mark C; McMillin, Margaret J; Gildersleeve, Heidi I; Beck, Anita E; Tabor, Holly K; Cooper, Gregory M; Mefford, Heather C; Lee, Choli; Turner, Emily H; Smith, Joshua D; Rieder, Mark J; Yoshiura, Koh-ichiro (September 2010). "Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome". Nature Genetics. 42 (9): 790–793. doi:10.1038/ng.646. ISSN 1061-4036. PMC 2930028. PMID 20711175.

nih.gov

pubmed.ncbi.nlm.nih.gov

Adam MP, Hudgins L, Hannibal M (2019-10-21). Kabuki Syndrome. University of Washington, Seattle. PMID 21882399.

Bögershausen N, Wollnik B (March 2013). "Unmasking Kabuki syndrome". Clinical Genetics. 83 (3): 201–211. doi:10.1111/cge.12051. PMID 23131014. S2CID 204999137.

Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, Adam MP, Hudgins L, Hannibal M (16 May 2013). Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). "Kabuki Syndrome". GeneReviews [Internet]. PMID 21882399.

Adam, Margaret P.; Hudgins, Louanne; Hannibal, Mark (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "Kabuki Syndrome", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID 21882399, retrieved 2024-02-01

Kasdon BD, Fox JE (September 2012). "Kabuki syndrome: diagnostic and treatment considerations". Mental Health in Family Medicine. 9 (3): 171–179. PMC 3622909. PMID 23997823.

ncbi.nlm.nih.gov

Adam MP, Hudgins L, Hannibal M (2019-10-21). Kabuki Syndrome. University of Washington, Seattle. PMID 21882399.

Kasdon BD, Fox JE (September 2012). "Kabuki syndrome: diagnostic and treatment considerations". Mental Health in Family Medicine. 9 (3): 171–179. PMC 3622909. PMID 23997823.

nih.gov

"Kabuki Syndrome Gene Identified". National Institutes of Health (NIH). 2015-05-20. Retrieved 2017-10-26.

rarediseases.info.nih.gov

"Kabuki syndrome". Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Retrieved 2018-04-01.

ghr.nlm.nih.gov

"Kabuki syndrome". Genetics Home Reference, U.S. National Library of Medicine. Retrieved 15 April 2018.

semanticscholar.org

api.semanticscholar.org

Bögershausen N, Wollnik B (March 2013). "Unmasking Kabuki syndrome". Clinical Genetics. 83 (3): 201–211. doi:10.1111/cge.12051. PMID 23131014. S2CID 204999137.

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