144 related articles for article (PubMed ID: 34803161)
1. Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Rouxel F; Yauy K; Boursier G; Gatinois V; Barat-Houari M; Sanchez E; Lacombe D; Arpin S; Giuliano F; Haye D; Rio M; Toutain A; Dieterich K; Brischoux-Boucher E; Julia S; Nizon M; Afenjar A; Keren B; Jacquette A; Moutton S; Jacquemont ML; Duflos C; Capri Y; Amiel J; Blanchet P; Lyonnet S; Sanlaville D; Genevieve D
Eur J Hum Genet; 2022 Jun; 30(6):682-686. PubMed ID: 34803161
[TBL] [Abstract][Full Text] [Related]
2. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).
Banka S; Lederer D; Benoit V; Jenkins E; Howard E; Bunstone S; Kerr B; McKee S; Lloyd IC; Shears D; Stewart H; White SM; Savarirayan R; Mancini GM; Beysen D; Cohn RD; Grisart B; Maystadt I; Donnai D
Clin Genet; 2015 Mar; 87(3):252-8. PubMed ID: 24527667
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Hennocq Q; Willems M; Amiel J; Arpin S; Attie-Bitach T; Bongibault T; Bouygues T; Cormier-Daire V; Corre P; Dieterich K; Douillet M; Feydy J; Galliani E; Giuliano F; Lyonnet S; Picard A; Porntaveetus T; Rio M; Rouxel F; Shotelersuk V; Toutain A; Yauy K; Geneviève D; Khonsari RH; Garcelon N
Sci Rep; 2024 Jan; 14(1):2330. PubMed ID: 38282012
[TBL] [Abstract][Full Text] [Related]
5. Hypoglycemia and Dandy-Walker variant in a Kabuki syndrome patient: a case report.
Guo W; Zhao Y; Li S; Wang J; Liu X
BMC Med Genet; 2020 Oct; 21(1):193. PubMed ID: 33008324
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Genome-wide DNA methylation profiling confirms a case of low-level mosaic Kabuki syndrome 1.
Montano C; Britton JF; Harris JR; Kerkhof J; Barnes BT; Lee JA; Sadikovic B; Sobreira N; Fahrner JA
Am J Med Genet A; 2022 Jul; 188(7):2217-2225. PubMed ID: 35384273
[TBL] [Abstract][Full Text] [Related]
8. 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]
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. Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.
Long A; Sinkovskaya ES; Edmondson AC; Zackai E; Schrier Vergano SA
Am J Med Genet A; 2016 Dec; 170(12):3333-3337. PubMed ID: 27568880
[TBL] [Abstract][Full Text] [Related]
11. The KMT2D Kabuki syndrome histone methylase controls neural crest cell differentiation and facial morphology.
Shpargel KB; Mangini CL; Xie G; Ge K; Magnuson T
Development; 2020 Jul; 147(21):. PubMed ID: 32541010
[TBL] [Abstract][Full Text] [Related]
12. Kabuki syndrome: review of the clinical features, diagnosis and epigenetic mechanisms.
Wang YR; Xu NX; Wang J; Wang XM
World J Pediatr; 2019 Dec; 15(6):528-535. PubMed ID: 31587141
[TBL] [Abstract][Full Text] [Related]
13. Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.
McVeigh TP; Banka S; Reardon W
Clin Dysmorphol; 2015 Oct; 24(4):135-9. PubMed ID: 26049589
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome.
Cuvertino S; Hartill V; Colyer A; Garner T; Nair N; Al-Gazali L; Canham N; Faundes V; Flinter F; Hertecant J; Holder-Espinasse M; Jackson B; Lynch SA; Nadat F; Narasimhan VM; Peckham M; Sellers R; Seri M; Montanari F; Southgate L; Squeo GM; Trembath R; van Heel D; Venuto S; Weisberg D; Stals K; Ellard S; ; Barton A; Kimber SJ; Sheridan E; Merla G; Stevens A; Johnson CA; Banka S
Genet Med; 2020 May; 22(5):867-877. PubMed ID: 31949313
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.
Haanpää M; Schlecht H; Batra G; Clayton-Smith J; Douzgou S
Am J Med Genet A; 2017 Apr; 173(4):1115-1118. PubMed ID: 28256057
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]