195 related articles for article (PubMed ID: 26553706)
1. Body proportions in children with Kabuki syndrome.
Penders B; Schott N; Gerver WJ; Stumpel CT
Am J Med Genet A; 2016 Mar; 170(3):610-4. PubMed ID: 26553706
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Growth charts in Kabuki syndrome 1.
Ruault V; Corsini C; Duflos C; Akouete S; Georgescu V; Abaji M; Alembick Y; Alix E; Amiel J; Amouroux C; Barat-Houari M; Baumann C; Bonnard A; Boursier G; Boute O; Burglen L; Busa T; Cordier MP; Cormier-Daire V; Delrue MA; Doray B; Faivre L; Fradin M; Gilbert-Dussardier B; Giuliano F; Goldenberg A; Gorokhova S; Héron D; Isidor B; Jacquemont ML; Jacquette A; Jeandel C; Lacombe D; Le Merrer M; Sang KHLQ; Lyonnet S; Manouvrier S; Michot C; Moncla A; Moutton S; Odent S; Pelet A; Philip N; Pinson L; Reversat J; Roume J; Sanchez E; Sanlaville D; Sarda P; Schaefer E; Till M; Touitou I; Toutain A; Willems M; Gatinois V; Geneviève D
Am J Med Genet A; 2020 Mar; 182(3):446-453. PubMed ID: 31876365
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Clinical and molecular spectrum of renal malformations in Kabuki syndrome.
Courcet JB; Faivre L; Michot C; Burguet A; Perez-Martin S; Alix E; Amiel J; Baumann C; Cordier MP; Cormier-Daire V; Delrue MA; Gilbert-Dussardier B; Goldenberg A; Jacquemont ML; Jaquette A; Kayirangwa H; Lacombe D; Le Merrer M; Toutain A; Odent S; Moncla A; Pelet A; Philip N; Pinson L; Poisson S; Kim-Han le QS; Roume J; Sanchez E; Willems M; Till M; Vincent-Delorme C; Mousson C; Vinault S; Binquet C; Huet F; Sarda P; Salomon R; Lyonnet S; Sanlaville D; Geneviève D
J Pediatr; 2013 Sep; 163(3):742-6. PubMed ID: 23535010
[TBL] [Abstract][Full Text] [Related]
8. Autism spectrum disorder in Kabuki syndrome: clinical, diagnostic and rehabilitative aspects assessed through the presentation of three cases.
Parisi L; Di Filippo T; Roccella M
Minerva Pediatr; 2015 Aug; 67(4):369-75. PubMed ID: 26129805
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. 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]
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. Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation.
de Billy E; Strocchio L; Cacchione A; Agolini E; Gnazzo M; Novelli A; De Vito R; Capolino R; Digilio MC; Caruso R; Mastronuzzi A; Locatelli F
Am J Med Genet A; 2019 Jan; 179(1):113-117. PubMed ID: 30569626
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. A novel KMT2D mutation resulting in Kabuki syndrome: A case report.
Lu J; Mo G; Ling Y; Ji L
Mol Med Rep; 2016 Oct; 14(4):3641-5. PubMed ID: 27573763
[TBL] [Abstract][Full Text] [Related]
17. [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]
18. Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results.
Schott DA; Gerver WJM; Stumpel CTRM
Horm Res Paediatr; 2017; 88(3-4):258-264. PubMed ID: 28793284
[TBL] [Abstract][Full Text] [Related]
19. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P; van Bon BW; Steehouwer M; Rodríguez-Santiago B; Simpson M; Dias P; Anderlid BM; Arts P; Bhat M; Augello B; Biamino E; Bongers EM; Del Campo M; Cordeiro I; Cueto-González AM; Cuscó I; Deshpande C; Frysira E; Izatt L; Flores R; Galán E; Gener B; Gilissen C; Granneman SM; Hoyer J; Yntema HG; Kets CM; Koolen DA; Marcelis Cl; Medeira A; Micale L; Mohammed S; de Munnik SA; Nordgren A; Psoni S; Reardon W; Revencu N; Roscioli T; Ruiterkamp-Versteeg M; Santos HG; Schoumans J; Schuurs-Hoeijmakers JH; Silengo MC; Toledo L; Vendrell T; van der Burgt I; van Lier B; Zweier C; Reymond A; Trembath RC; Perez-Jurado L; Dupont J; de Vries BB; Brunner HG; Veltman JA; Merla G; Antonarakis SE; Hoischen A
Clin Genet; 2013 Dec; 84(6):539-45. PubMed ID: 23320472
[TBL] [Abstract][Full Text] [Related]
20. Growth pattern in Kabuki syndrome with a KMT2D mutation.
Schott DA; Blok MJ; Gerver WJ; Devriendt K; Zimmermann LJ; Stumpel CT
Am J Med Genet A; 2016 Dec; 170(12):3172-3179. PubMed ID: 27530205
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
