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2025

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Year Number of Results
1997 2
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2002 2
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2013 4
2014 3
2015 2
2016 3
2017 3
2018 3
2019 1
2020 2
2021 1
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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.
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, we recommend reassuring the family and then conducting a detailed interview regarding past medical and fa …
An associated disease was found in 32 children (2.2%), most of whom had several pilomatricomas (n = 23); 9 had a single lesion …
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. ...An enrichment analysis aimed at identifying funct
Kabuki syndrome (KS) is a rare genetic syndrome characterized by a typical facial gestalt, variable degrees of intellectual di
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 …
Human Genetics of Atrial Septal Defect.
Larsen LA, Hitz MP. Larsen LA, et al. Adv Exp Med Biol. 2024;1441:467-480. doi: 10.1007/978-3-031-44087-8_24. Adv Exp Med Biol. 2024. PMID: 38884726 Review.
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
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
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 …
Extremely Low Birth Weight Infant (Gestational Age of 29 Weeks) With Kabuki Syndrome Type I: Case Report and Literature Review.
Li Q, Zheng Y, Guo X, Xue J. Li Q, et al. Mol Genet Genomic Med. 2024 Oct;12(10):e70025. doi: 10.1002/mgg3.70025. Mol Genet Genomic Med. 2024. PMID: 39400990 Free PMC article. Review.
BACKGROUND: This paper aimed to investigate the clinical phenotype of Kabuki syndrome (KS) in premature infants. METHODS: This paper presents a case of an extremely low birth weight infant (gestational age 29 weeks) with KS1 caused by a variant in the KMT2D gene. .. …
BACKGROUND: This paper aimed to investigate the clinical phenotype of Kabuki syndrome (KS) in premature infants. METHODS: This …
31 results