221 related articles for article (PubMed ID: 35384273)
1. 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]
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. Genome-wide DNA methylation and RNA analyses enable reclassification of two variants of uncertain significance in a patient with clinical Kabuki syndrome.
Aref-Eshghi E; Bourque DK; Kerkhof J; Carere DA; Ainsworth P; Sadikovic B; Armour CM; Lin H
Hum Mutat; 2019 Oct; 40(10):1684-1689. PubMed ID: 31268616
[TBL] [Abstract][Full Text] [Related]
4. 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]
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. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. Holoprosencephaly in Kabuki syndrome.
Daly T; Roberts A; Yang E; Mochida GH; Bodamer O
Am J Med Genet A; 2020 Mar; 182(3):441-445. PubMed ID: 31846209
[TBL] [Abstract][Full Text] [Related]
16. Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
Sobreira N; Brucato M; Zhang L; Ladd-Acosta C; Ongaco C; Romm J; Doheny KF; Mingroni-Netto RC; Bertola D; Kim CA; Perez AB; Melaragno MI; Valle D; Meloni VA; Bjornsson HT
Eur J Hum Genet; 2017 Dec; 25(12):1335-1344. PubMed ID: 29255178
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder.
Marwaha A; Costain G; Cytrynbaum C; Mendoza-Londono R; Chad L; Awamleh Z; Chater-Diehl E; Choufani S; Weksberg R
Am J Med Genet A; 2022 May; 188(5):1368-1375. PubMed ID: 35043535
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]