581 related articles for article (PubMed ID: 25972376)
41. 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]
42. Coinheritance of Novel Mutations in
Kim J; Lee CG
Ann Clin Lab Sci; 2017 Mar; 47(2):229-235. PubMed ID: 28442529
[TBL] [Abstract][Full Text] [Related]
43. 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]
44. Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong.
So PL; Luk HM; Yu KPT; Cheng SSW; Hau EWL; Ho SKL; Lam STS; Lo IFM
Am J Med Genet A; 2021 Mar; 185(3):675-686. PubMed ID: 33314698
[TBL] [Abstract][Full Text] [Related]
45. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.
Margot H; Boursier G; Duflos C; Sanchez E; Amiel J; Andrau JC; Arpin S; Brischoux-Boucher E; Boute O; Burglen L; Caille C; Capri Y; Collignon P; Conrad S; Cormier-Daire V; Delplancq G; Dieterich K; Dollfus H; Fradin M; Faivre L; Fernandes H; Francannet C; Gatinois V; Gerard M; Goldenberg A; Ghoumid J; Grotto S; Guerrot AM; Guichet A; Isidor B; Jacquemont ML; Julia S; Khau Van Kien P; Legendre M; Le Quan Sang KH; Leheup B; Lyonnet S; Magry V; Manouvrier S; Martin D; Morel G; Munnich A; Naudion S; Odent S; Perrin L; Petit F; Philip N; Rio M; Robbe J; Rossi M; Sarrazin E; Toutain A; Van Gils J; Vera G; Verloes A; Weber S; Whalen S; Sanlaville D; Lacombe D; Aladjidi N; Geneviève D
Genet Med; 2020 Jan; 22(1):181-188. PubMed ID: 31363182
[TBL] [Abstract][Full Text] [Related]
46. 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]
47. Anatomical and functional abnormalities on MRI in kabuki syndrome.
Boisgontier J; Tacchella JM; Lemaître H; Lehman N; Saitovitch A; Gatinois V; Boursier G; Sanchez E; Rechtman E; Fillon L; Lyonnet S; Le Quang Sang KH; Baujat G; Rio M; Boute O; Faivre L; Schaefer E; Sanlaville D; Zilbovicius M; Grévent D; Geneviève D; Boddaert N
Neuroimage Clin; 2019; 21():101610. PubMed ID: 30497982
[TBL] [Abstract][Full Text] [Related]
48. 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]
49. Loss of function of Kmt2d, a gene mutated in Kabuki syndrome, affects heart development in Xenopus laevis.
Schwenty-Lara J; Nürnberger A; Borchers A
Dev Dyn; 2019 Jun; 248(6):465-476. PubMed ID: 30980591
[TBL] [Abstract][Full Text] [Related]
50. Kabuki syndrome revisited.
Bokinni Y
J Hum Genet; 2012 Apr; 57(4):223-7. PubMed ID: 22437206
[TBL] [Abstract][Full Text] [Related]
51. The histone methyltransferase KMT2D, mutated in Kabuki syndrome patients, is required for neural crest cell formation and migration.
Schwenty-Lara J; Nehl D; Borchers A
Hum Mol Genet; 2020 Jan; 29(2):305-319. PubMed ID: 31813957
[TBL] [Abstract][Full Text] [Related]
52. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.
Lederer D; Shears D; Benoit V; Verellen-Dumoulin C; Maystadt I
Am J Med Genet A; 2014 May; 164A(5):1289-92. PubMed ID: 24664873
[TBL] [Abstract][Full Text] [Related]
53. Identification of a KDM6A somatic mutation responsible for Kabuki syndrome by excluding a conflicting KMT2D germline variant through episignature analysis.
Kawai T; Iwasaki Y; Ogata-Kawata H; Kamura H; Nakamura K; Hata K; Takano T; Nakabayashi K
Eur J Med Genet; 2023 Aug; 66(8):104806. PubMed ID: 37379880
[TBL] [Abstract][Full Text] [Related]
54. Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype.
Usluer E; Sayın GY; Güneş N; Kasap B; Tüysüz B
Am J Med Genet A; 2022 Oct; 188(10):2976-2987. PubMed ID: 36097644
[TBL] [Abstract][Full Text] [Related]
55. 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]
56. Near complete deletion of KMT2D in a college student.
Gooch C; Souder JP; Tedder ML; Kerkhof J; Lee JA; Louie RJ; Sadikovic B; Fletcher RS; Robin NH
Am J Med Genet A; 2022 May; 188(5):1550-1555. PubMed ID: 35040536
[TBL] [Abstract][Full Text] [Related]
57. Molecularly confirmed Kabuki (Niikawa-Kuroki) syndrome patients demonstrate a specific cognitive profile with extensive visuospatial abnormalities.
Harris J; Mahone EM; Bjornsson HT
J Intellect Disabil Res; 2019 Jun; 63(6):489-497. PubMed ID: 30767315
[TBL] [Abstract][Full Text] [Related]
58. Characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations.
Kurahashi N; Miyake N; Mizuno S; Koshimizu E; Kurahashi H; Yamada K; Natsume J; Aoki Y; Nakamura M; Taniai H; Maki Y; Abe-Hatano C; Matsumoto N; Maruyama K
Brain Dev; 2017 Sep; 39(8):672-677. PubMed ID: 28404210
[TBL] [Abstract][Full Text] [Related]
59. Neuroimaging in Kabuki syndrome and another KMT2D-related disorder.
Stadelmaier RT; Kenna MA; Barrett D; Mullen TE; Bodamer O; Agrawal PB; Robson CD; Wojcik MH
Am J Med Genet A; 2021 Dec; 185(12):3770-3783. PubMed ID: 34369642
[TBL] [Abstract][Full Text] [Related]
60. 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]
[Previous] [Next] [New Search]
