264 related articles for article (PubMed ID: 29907798)
1. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Yap KL; Johnson AEK; Fischer D; Kandikatla P; Deml J; Nelakuditi V; Halbach S; Jeha GS; Burrage LC; Bodamer O; Benavides VC; Lewis AM; Ellard S; Shah P; Cody D; Diaz A; Devarajan A; Truong L; Greeley SAW; De Leó-Crutchlow DD; Edmondson AC; Das S; Thornton P; Waggoner D; Del Gaudio D
Genet Med; 2019 Jan; 21(1):233-242. PubMed ID: 29907798
[TBL] [Abstract][Full Text] [Related]
2. Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
Paděrová J; Holubová A; Simandlová M; Puchmajerová A; Vlčková M; Malíková M; Pourová R; Vejvalková S; Havlovicová M; Šenkeříková M; Ptáková N; Drábová J; Geryk J; Maver A; Křepelová A; Macek M
Clin Genet; 2016 Sep; 90(3):230-7. PubMed ID: 26841933
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Identification of novel KMT2D mutations in two Chinese children with Kabuki syndrome: a case report and systematic literature review.
Xin C; Wang C; Wang Y; Zhao J; Wang L; Li R; Liu J
BMC Med Genet; 2018 Feb; 19(1):31. PubMed ID: 29482518
[TBL] [Abstract][Full Text] [Related]
5. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
Van Laarhoven PM; Neitzel LR; Quintana AM; Geiger EA; Zackai EH; Clouthier DE; Artinger KB; Ming JE; Shaikh TH
Hum Mol Genet; 2015 Aug; 24(15):4443-53. PubMed ID: 25972376
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Neonatal case of novel KMT2D mutation in Kabuki syndrome with severe hypoglycemia.
Gohda Y; Oka S; Matsunaga T; Watanabe S; Yoshiura K; Kondoh T; Matsumoto T
Pediatr Int; 2015 Aug; 57(4):726-8. PubMed ID: 25944076
[TBL] [Abstract][Full Text] [Related]
9. Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.
Bögershausen N; Gatinois V; Riehmer V; Kayserili H; Becker J; Thoenes M; Simsek-Kiper PÖ; Barat-Houari M; Elcioglu NH; Wieczorek D; Tinschert S; Sarrabay G; Strom TM; Fabre A; Baynam G; Sanchez E; Nürnberg G; Altunoglu U; Capri Y; Isidor B; Lacombe D; Corsini C; Cormier-Daire V; Sanlaville D; Giuliano F; Le Quan Sang KH; Kayirangwa H; Nürnberg P; Meitinger T; Boduroglu K; Zoll B; Lyonnet S; Tzschach A; Verloes A; Di Donato N; Touitou I; Netzer C; Li Y; Geneviève D; Yigit G; Wollnik B
Hum Mutat; 2016 Sep; 37(9):847-64. PubMed ID: 27302555
[TBL] [Abstract][Full Text] [Related]
10. Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
Cheon CK; Sohn YB; Ko JM; Lee YJ; Song JS; Moon JW; Yang BK; Ha IS; Bae EJ; Jin HS; Jeong SY
J Hum Genet; 2014 Jun; 59(6):321-5. PubMed ID: 24739679
[TBL] [Abstract][Full Text] [Related]
11. Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
Yap CS; Jamuar SS; Lai AHM; Tan ES; Ng I; Ting TW; Tan EC
Gene; 2020 Mar; 731():144360. PubMed ID: 31935506
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Neurobehavioral features in individuals with Kabuki syndrome.
Caciolo C; Alfieri P; Piccini G; Digilio MC; Lepri FR; Tartaglia M; Menghini D; Vicari S
Mol Genet Genomic Med; 2018 May; 6(3):322-331. PubMed ID: 29536651
[TBL] [Abstract][Full Text] [Related]
14. 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;
J Med Genet; 2019 Feb; 56(2):89-95. PubMed ID: 30514738
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Hypermobility in individuals with Kabuki syndrome: The effect of growth hormone treatment.
Schott DA; Stumpel CTRM; Klaassens M
Am J Med Genet A; 2019 Feb; 179(2):219-223. PubMed ID: 30556359
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [Congenital hyperinsulinism as a part of Kabuki syndrome].
Benina AR; Melikyan MA
Probl Endokrinol (Mosk); 2022 Jul; 68(5):91-96. PubMed ID: 36337023
[TBL] [Abstract][Full Text] [Related]
20. Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.
Lintas C; Persico AM
Clin Genet; 2018 Oct; 94(3-4):283-295. PubMed ID: 28139835
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
