328 related articles for article (PubMed ID: 31446696)
21. The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series.
Wang Y; Li N; Su Z; Xu Y; Liu S; Chen Y; Li X; Shen Y; Hung C; Wang J; Wang X; Bodamer O
Am J Med Genet A; 2020 Apr; 182(4):640-651. PubMed ID: 31883305
[TBL] [Abstract][Full Text] [Related]
22. 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
Arch Dis Child; 2015 Feb; 100(2):158-64. PubMed ID: 25281733
[TBL] [Abstract][Full Text] [Related]
23. [Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome].
Wang HM; Wang XH; Wu HS; Wu Y; Zhuo XW
Zhonghua Er Ke Za Zhi; 2018 Nov; 56(11):846-849. PubMed ID: 30392209
[No Abstract] [Full Text] [Related]
24. Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Paderova J; Drabova J; Holubova A; Vlckova M; Havlovicova M; Gregorova A; Pourova R; Romankova V; Moslerova V; Geryk J; Norambuena P; Krulisova V; Krepelova A; Macek M; Macek M
Eur J Med Genet; 2018 Jun; 61(6):315-321. PubMed ID: 29307790
[TBL] [Abstract][Full Text] [Related]
25. On the significance of craniosynostosis in a case of Kabuki syndrome with a concomitant KMT2D mutation and 3.2 Mbp de novo 10q22.3q23.1 deletion.
Topa A; Samuelsson L; Lovmar L; Stenman G; Kölby L
Am J Med Genet A; 2017 Aug; 173(8):2219-2225. PubMed ID: 28590022
[TBL] [Abstract][Full Text] [Related]
26. Kabuki Syndrome-Clinical Review with Molecular Aspects.
Boniel S; Szymańska K; Śmigiel R; Szczałuba K
Genes (Basel); 2021 Mar; 12(4):. PubMed ID: 33805950
[TBL] [Abstract][Full Text] [Related]
27. A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome.
Mısırlıgil M; Yıldız Y; Akın O; Odabaşı Güneş S; Arslan M; Ünay B
J Clin Res Pediatr Endocrinol; 2021 Nov; 13(4):452-455. PubMed ID: 32830475
[TBL] [Abstract][Full Text] [Related]
28. Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Lepri FR; Cocciadiferro D; Augello B; Alfieri P; Pes V; Vancini A; Caciolo C; Squeo GM; Malerba N; Adipietro I; Novelli A; Sotgiu S; Gherardi R; Digilio MC; Dallapiccola B; Merla G
Int J Mol Sci; 2017 Dec; 19(1):. PubMed ID: 29283410
[TBL] [Abstract][Full Text] [Related]
29. Congenital heart defects in molecularly proven Kabuki syndrome patients.
Digilio MC; Gnazzo M; Lepri F; Dentici ML; Pisaneschi E; Baban A; Passarelli C; Capolino R; Angioni A; Novelli A; Marino B; Dallapiccola B
Am J Med Genet A; 2017 Nov; 173(11):2912-2922. PubMed ID: 28884922
[TBL] [Abstract][Full Text] [Related]
30. A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population.
Faundes V; Malone G; Newman WG; Banka S
J Hum Genet; 2019 Feb; 64(2):161-170. PubMed ID: 30459467
[TBL] [Abstract][Full Text] [Related]
31. Kabuki syndrome with midgut malrotation and hyperinsulinemic hypoglycemia: A rare co-occurrence from Thailand.
Phetthong T; Tim-Aroon T; Khongkrapan A; Poomthavorn P; Wattanasirichaigoon D
Am J Med Genet A; 2020 Aug; 182(8):1873-1876. PubMed ID: 32525229
[TBL] [Abstract][Full Text] [Related]
32. MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Miyake N; Koshimizu E; Okamoto N; Mizuno S; Ogata T; Nagai T; Kosho T; Ohashi H; Kato M; Sasaki G; Mabe H; Watanabe Y; Yoshino M; Matsuishi T; Takanashi J; Shotelersuk V; Tekin M; Ochi N; Kubota M; Ito N; Ihara K; Hara T; Tonoki H; Ohta T; Saito K; Matsuo M; Urano M; Enokizono T; Sato A; Tanaka H; Ogawa A; Fujita T; Hiraki Y; Kitanaka S; Matsubara Y; Makita T; Taguri M; Nakashima M; Tsurusaki Y; Saitsu H; Yoshiura K; Matsumoto N; Niikawa N
Am J Med Genet A; 2013 Sep; 161A(9):2234-43. PubMed ID: 23913813
[TBL] [Abstract][Full Text] [Related]
33. RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.
Bögershausen N; Tsai IC; Pohl E; Kiper PÖ; Beleggia F; Percin EF; Keupp K; Matchan A; Milz E; Alanay Y; Kayserili H; Liu Y; Banka S; Kranz A; Zenker M; Wieczorek D; Elcioglu N; Prontera P; Lyonnet S; Meitinger T; Stewart AF; Donnai D; Strom TM; Boduroglu K; Yigit G; Li Y; Katsanis N; Wollnik B
J Clin Invest; 2015 Sep; 125(9):3585-99. PubMed ID: 26280580
[TBL] [Abstract][Full Text] [Related]
34. A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.
Moon JE; Lee SJ; Ko CW
BMC Med Genet; 2018 Jun; 19(1):102. PubMed ID: 29914387
[TBL] [Abstract][Full Text] [Related]
35. [Clinical and genetic characteristics of four children with Kabuki syndrome due to de novo variants of KMT2D gene].
Fan H; Wang Y; Wu Y; Jia L; Wang L; Shen Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):546-550. PubMed ID: 38684298
[TBL] [Abstract][Full Text] [Related]
36. Novel KDM6A splice-site mutation in kabuki syndrome with congenital hydrocephalus: a case report.
Guo Z; Liu F; Li HJ
BMC Med Genet; 2018 Dec; 19(1):206. PubMed ID: 30509212
[TBL] [Abstract][Full Text] [Related]
37. 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
Mol Genet Genomic Med; 2024 Jan; 12(1):e2306. PubMed ID: 37921229
[TBL] [Abstract][Full Text] [Related]
38. Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene.
Cappuccio G; Rossi A; Fontana P; Acampora E; Avolio V; Merla G; Zelante L; Secinaro A; Andria G; Melis D
BMC Med Genet; 2014 Jan; 15():15. PubMed ID: 24472332
[TBL] [Abstract][Full Text] [Related]
39. Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.
Karagianni P; Lambropoulos V; Stergidou D; Fryssira H; Chatziioannidis I; Spyridakis I
Am J Med Genet A; 2016 May; 170A(5):1333-8. PubMed ID: 26898171
[TBL] [Abstract][Full Text] [Related]
40. Prenatal and perinatal history in Kabuki Syndrome.
Rosenberg CE; Daly T; Hung C; Hsueh I; Lindsley AW; Bodamer O
Am J Med Genet A; 2020 Jan; 182(1):85-92. PubMed ID: 31654559
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]