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

Year Number of Results
1971 1
1977 1
1980 1
1981 1
1982 1
1984 2
1985 4
1986 3
1987 3
1988 2
1989 3
1990 3
1991 3
1992 2
1993 7
1994 10
1995 9
1996 11
1997 15
1998 9
1999 8
2000 10
2001 19
2002 11
2003 14
2004 21
2005 33
2006 20
2007 18
2008 25
2009 24
2010 28
2011 28
2012 28
2013 31
2014 32
2015 33
2016 45
2017 43
2018 50
2019 63
2020 39
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634 results
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Page 1
Kabuki syndrome: clinical and molecular characteristics.
Cheon CK, Ko JM. Cheon CK, et al. Korean J Pediatr. 2015 Sep;58(9):317-24. doi: 10.3345/kjp.2015.58.9.317. Epub 2015 Sep 21. Korean J Pediatr. 2015. PMID: 26512256 Free PMC article. Review.
Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. ...
Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics
[Kabuki syndrome: Update and review].
Arnaud M, Barat-Houari M, Gatinois V, Sanchez E, Lyonnet S, Touitou I, Geneviève D. Arnaud M, et al. Arch Pediatr. 2015 Jun;22(6):653-60. doi: 10.1016/j.arcped.2015.03.020. Epub 2015 Apr 28. Arch Pediatr. 2015. PMID: 25934606 Review. French.
Kabuki syndrome (OMIM: 147920) is a rare condition, mainly associating intellectual deficiency, a polymalformative syndrome, and specific morphological changes in the face. ...Finally, understanding the interactions between KMT2D and its target genes could unravel other ca
Kabuki syndrome (OMIM: 147920) is a rare condition, mainly associating intellectual deficiency, a polymalformative syndrome, and spec
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.
Cancer risks of Kabuki syndrome was reviewed. Meanwhile, we discussed the Kabuki-like syndrome. Digital clinical genetic service, such as dysmorphology database can improve availability and provide high-quality diagnostic services. ...CONCLUSIONS: Kabuki synd …
Cancer risks of Kabuki syndrome was reviewed. Meanwhile, we discussed the Kabuki-like syndrome. Digital clinical genetic servi …
Kabuki Syndrome.
Adam MP, Hudgins L, Hannibal M. Adam MP, et al. 2011 Sep 1 [updated 2019 Oct 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. 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 cupped ears …
CLINICAL CHARACTERISTICS: Kabuki syndrome (KS) is characterized by typical facial features (long palpebral fissures with eversion of …
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. ...
OBJECTIVE: This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectru …
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 KMT2D or …
Dissecting KMT2D missense mutations in Kabuki syndrome patients.
Cocciadiferro D, Augello B, De Nittis P, Zhang J, Mandriani B, Malerba N, Squeo GM, Romano A, Piccinni B, Verri T, Micale L, Pasqualucci L, Merla G. Cocciadiferro D, et al. Hum Mol Genet. 2018 Nov 1;27(21):3651-3668. doi: 10.1093/hmg/ddy241. Hum Mol Genet. 2018. PMID: 30107592 Free PMC article.
Kabuki syndrome is a rare autosomal dominant condition characterized by facial features, various organs malformations, postnatal growth deficiency and intellectual disability. ...
Kabuki syndrome is a rare autosomal dominant condition characterized by facial features, various organs malformations, postnatal grow
Neurobehavioral features in individuals with Kabuki syndrome.
Caciolo C, Alfieri P, Piccini G, Digilio MC, Lepri FR, Tartaglia M, Menghini D, Vicari S. Caciolo C, et al. Mol Genet Genomic Med. 2018 May;6(3):322-331. doi: 10.1002/mgg3.348. Epub 2018 Mar 13. Mol Genet Genomic Med. 2018. PMID: 29536651 Free PMC article.
BACKGROUND: Kabuki syndrome (KS) is a disorder characterized by multiple congenital anomalies affecting development and function of multiple systems. ...
BACKGROUND: Kabuki syndrome (KS) is a disorder characterized by multiple congenital anomalies affecting development and function of m …
Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review.
Teranishi H, Koga Y, Nakashima K, Morihana E, Ishii K, Sakai Y, Taguchi T, Oda Y, Miyake N, Matsumoto N, Ohga S. Teranishi H, et al. J Pediatr Hematol Oncol. 2018 Jul;40(5):391-394. doi: 10.1097/MPH.0000000000001111. J Pediatr Hematol Oncol. 2018. PMID: 29489735 Review.
A 3-year-old Japanese girl treated for hypoplastic left heart syndrome and Dandy-Walker syndrome was diagnosed with Kabuki syndrome (KS) with a mutation of KMT2D; c.13285C>T:p.Q4429*. ...
A 3-year-old Japanese girl treated for hypoplastic left heart syndrome and Dandy-Walker syndrome was diagnosed with Kabuki syndrome ( …
Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome.
Serrano MLA, Demarest BL, Tone-Pah-Hote T, Tristani-Firouzi M, Yost HJ. Serrano MLA, et al. PLoS Biol. 2019 Sep 3;17(9):e3000087. doi: 10.1371/journal.pbio.3000087. eCollection 2019 Sep. PLoS Biol. 2019. PMID: 31479440 Free PMC article.
Kabuki Syndrome patients have a spectrum of congenital disorders, including congenital heart defects, the primary determinant of mortality. Seventy percent of Kabuki Syndrome patients have mutations in the histone methyl-transferase KMT2D. However, the underlying me
Kabuki Syndrome patients have a spectrum of congenital disorders, including congenital heart defects, the primary determinant of mort
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