Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1997 2
1999 1
2002 2
2004 1
2005 1
2007 3
2012 1
2013 4
2014 3
2015 2
2016 3
2017 3
2018 3
2019 1
2020 2
2021 1
2022 2
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

29 results

Results by year

Filters applied: . Clear all
Page 1
Ocular manifestations in kabuki syndrome: A report of 10 cases and literature review.
Cheon CK, Choi HY, Park SH, Jung JH, Kim SJ. Cheon CK, et al. Ophthalmic Genet. 2021 Apr;42(2):101-104. doi: 10.1080/13816810.2020.1861308. Epub 2020 Dec 18. Ophthalmic Genet. 2021. PMID: 33334222 Review.
Background: We investigated the ocular manifestations in patients with Kabuki syndrome(KS).Methods: A retrospective chart review was performed in 10 patients with KS were referred to the Department of Ophthalmology for evaluation of ocular manifestations. ...The imp …
Background: We investigated the ocular manifestations in patients with Kabuki syndrome(KS).Methods: A retrospective chart revi …
Childhood pilomatricomas: Associated anomalies.
Richet C, Maza A, Dreyfus I, Bourrat E, Mazereeuw-Hautier J. Richet C, et al. Pediatr Dermatol. 2018 Sep;35(5):548-551. doi: 10.1111/pde.13564. Epub 2018 Jul 1. Pediatr Dermatol. 2018. PMID: 29962097 Review.
One thousand four hundred fifty-eight children were described in retrospective series and case reports. An associated disease was found in 32 children (2.2%), most of whom had several pilomatricomas (n = 23); 9 had a single lesion. Based on this literature review, w …
One thousand four hundred fifty-eight children were described in retrospective series and case reports. An associated disease was found in 3 …
Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.
Aukema SM, Glaser S, van den Hout MFCM, Dahlum S, Blok MJ, Hillmer M, Kolarova J, Sciot R, Schott DA, Siebert R, Stumpel CTRM. Aukema SM, et al. Fam Cancer. 2023 Jan;22(1):103-118. doi: 10.1007/s10689-022-00306-z. Epub 2022 Jul 19. Fam Cancer. 2023. PMID: 35856126 Free PMC article. Review.
As somatic KMT2D variants can be found in 5-10% of tumors a tumor predisposition in Kabuki syndrome is discussed. So far less than 20 patients with Kabuki syndrome and a concomitant malignancy have been published. ...Including our patient literature re …
As somatic KMT2D variants can be found in 5-10% of tumors a tumor predisposition in Kabuki syndrome is discussed. So far less …
A narrative review on pathogenetic mechanisms of hyperinsulinemic hypoglycemia in Kabuki syndrome.
Maines E, Maiorana A, Leonardi L, Piccoli G, Soffiati M, Franceschi R. Maines E, et al. Endocr Regul. 2023 Jun 7;57(1):128-137. doi: 10.2478/enr-2023-0016. Print 2023 Jan 1. Endocr Regul. 2023. PMID: 37285460 Free article. Review.
Objective. Kabuki syndrome (KS) is associated with hyperinsulinemic hypoglycemia (HH) in 0.3-4% of patients, thus exceeding the prevalence in the general population. HH association is stronger for KS type 2 (KDM6A-KS, OMIM #300867) than KS type 1 (KMT2D-KS, O …
Objective. Kabuki syndrome (KS) is associated with hyperinsulinemic hypoglycemia (HH) in 0.3-4% of patients, thus exceeding th …
Kabuki syndrome: clinical and molecular diagnosis in the first year of life.
Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, Petrocchi S, Pisaneschi E, Bellacchio E, Capolino R, Braguglia A, Angioni A, Dotta A, Digilio MC, Dallapiccola B. Dentici ML, et al. Arch Dis Child. 2015 Feb;100(2):158-64. doi: 10.1136/archdischild-2013-305858. Epub 2014 Oct 3. Arch Dis Child. 2015. PMID: 25281733 Review.
OBJECTIVE: To review the clinical and molecular genetic characteristics of 16 patients presenting a suspected diagnosis of Kabuki syndrome (KS) in the first year of life, to evaluate the clinical handles leading to a prompt diagnosis of KS in newborns. ...A literatu …
OBJECTIVE: To review the clinical and molecular genetic characteristics of 16 patients presenting a suspected diagnosis of Kabuki …
Hyperinsulinism in the Neonate.
Lord K, De León DD. Lord K, et al. Clin Perinatol. 2018 Mar;45(1):61-74. doi: 10.1016/j.clp.2017.10.007. Epub 2017 Dec 6. Clin Perinatol. 2018. PMID: 29406007 Review.
K(ATP)-HI occurs in diffuse and focal forms. Distinguishing between the 2 forms is crucial, because pancreatectomy is curative in the focal form but palliative in the diffuse form. ...
K(ATP)-HI occurs in diffuse and focal forms. Distinguishing between the 2 forms is crucial, because pancreatectomy is curative in the …
Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.
Lintas C, Persico AM. Lintas C, et al. Clin Genet. 2018 Oct;94(3-4):283-295. doi: 10.1111/cge.12983. Epub 2017 Mar 1. Clin Genet. 2018. PMID: 28139835 Review.
Kabuki syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable degrees of intellectual disability, organ malformations, postnatal growth retardation and skeletal abnormalities. So far, KMT2D or KDM6A mutation has been identified …
Kabuki syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable degrees of intellectual di …
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature.
Geneviève D, Amiel J, Viot G, Le Merrer M, Sanlaville D, Urtizberea A, Gérard M, Munnich A, Cormier-Daire V, Lyonnet S. Geneviève D, et al. Am J Med Genet A. 2004 Aug 15;129A(1):64-8. doi: 10.1002/ajmg.a.30144. Am J Med Genet A. 2004. PMID: 15266618 Review.
Kabuki syndrome (KS) is a rare multiple congenital anomaly/mental retardation syndrome with an estimated frequency of 1/32,000 in Japan. ...Here we report on a series of 20 sporadic KS patients and we focus on some rare and atypical features that we have observed: c …
Kabuki syndrome (KS) is a rare multiple congenital anomaly/mental retardation syndrome with an estimated frequency of 1/32,000 …
KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies.
Lavery WJ, Barski A, Wiley S, Schorry EK, Lindsley AW. Lavery WJ, et al. Clin Epigenetics. 2020 Jan 10;12(1):10. doi: 10.1186/s13148-019-0802-2. Clin Epigenetics. 2020. PMID: 31924266 Free PMC article. Review.
The type 2 lysine methyltransferases KMT2C and KMT2D are large, enzymatically active scaffold proteins that form the core of nuclear regulatory structures known as KMT2C/D COMPASS complexes (complex of proteins associating with Set1). ...Over the last 20 years, mutations i …
The type 2 lysine methyltransferases KMT2C and KMT2D are large, enzymatically active scaffold proteins that form the core of nuclear …
Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up.
Hefner MA, Fassi E. Hefner MA, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):407-416. doi: 10.1002/ajmg.c.31589. Epub 2017 Oct 31. Am J Med Genet C Semin Med Genet. 2017. PMID: 29088501 Review.
CS should be considered in patients with any of the major diagnostic features: coloboma, choanal atresia, semicircular canal anomalies, or cranial nerve anomalies. The prime candidates in the differential are 22q11.2 deletion and Kabuki syndromes. Evaluation of features of …
CS should be considered in patients with any of the major diagnostic features: coloboma, choanal atresia, semicircular canal anomalies, or c …
29 results