These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
124 related articles for article (PubMed ID: 36453961)
1. [Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene]. Chen J; Tong G; Wang Y; Ye F; Shi L; Li H Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Dec; 39(12):1370-1374. PubMed ID: 36453961 [TBL] [Abstract][Full Text] [Related]
2. Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. Radvanszky J; Hyblova M; Durovcikova D; Hikkelova M; Fiedler E; Kadasi L; Turna J; Minarik G; Szemes T Clin Genet; 2017 Feb; 91(2):339-343. PubMed ID: 27452416 [TBL] [Abstract][Full Text] [Related]
3. A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome. Niida Y; Mitani Y; Kuroda M; Yokoi A; Nakagawa H; Kato A Congenit Anom (Kyoto); 2017 May; 57(3):86-88. PubMed ID: 27696664 [TBL] [Abstract][Full Text] [Related]
4. A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes. Vlckova M; Simandlova M; Zimmermann P; Stranecky V; Hartmannova H; Hodanova K; Havlovicova M; Hancarova M; Kmoch S; Sedlacek Z Eur J Med Genet; 2015 Oct; 58(10):550-5. PubMed ID: 26370006 [TBL] [Abstract][Full Text] [Related]
5. De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. Szakszon K; Salpietro C; Kakar N; Knegt AC; Oláh É; Dallapiccola B; Borck G Am J Med Genet A; 2013 Apr; 161A(4):884-8. PubMed ID: 23436491 [TBL] [Abstract][Full Text] [Related]
6. De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome. Li G; Li N; Li J; Ding Y; Yu T; Wang X; Wang J Fetal Pediatr Pathol; 2017 Apr; 36(2):130-138. PubMed ID: 28426343 [TBL] [Abstract][Full Text] [Related]
7. A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders. Marangi G; Di Giacomo MC; Lattante S; Orteschi D; Patrizi S; Doronzio PN; Riviello FN; Vaisfeld A; Frangella S; Zollino M Am J Med Genet A; 2018 Feb; 176(2):455-459. PubMed ID: 29226580 [TBL] [Abstract][Full Text] [Related]
8. Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders. Brea-Fernández A; Dacruz D; Eirís J; Barros F; Carracedo Á Am J Med Genet A; 2019 Feb; 179(2):290-294. PubMed ID: 30569622 [TBL] [Abstract][Full Text] [Related]
9. De novo Lundsgaard M; Le VQ; Ernst A; Laugaard-Jacobsen HC; Rasmussen K; Pedersen IS; Petersen MB Mol Syndromol; 2017 Jan; 8(1):24-29. PubMed ID: 28232779 [TBL] [Abstract][Full Text] [Related]
10. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. Campeau PM; Lu JT; Dawson BC; Fokkema IF; Robertson SP; Gibbs RA; Lee BH Hum Mutat; 2012 Nov; 33(11):1520-5. PubMed ID: 22715153 [TBL] [Abstract][Full Text] [Related]
11. A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. Yilmaz R; Beleza-Meireles A; Price S; Oliveira R; Kubisch C; Clayton-Smith J; Szakszon K; Borck G Am J Med Genet A; 2015 Dec; 167A(12):3006-10. PubMed ID: 26334766 [TBL] [Abstract][Full Text] [Related]
13. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Clayton-Smith J; O'Sullivan J; Daly S; Bhaskar S; Day R; Anderson B; Voss AK; Thomas T; Biesecker LG; Smith P; Fryer A; Chandler KE; Kerr B; Tassabehji M; Lynch SA; Krajewska-Walasek M; McKee S; Smith J; Sweeney E; Mansour S; Mohammed S; Donnai D; Black G Am J Hum Genet; 2011 Nov; 89(5):675-81. PubMed ID: 22077973 [TBL] [Abstract][Full Text] [Related]
14. De novo KAT6B mutation causes Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome in an Iranian boy: a case report. Davarnia B; Panahi M; Rahimi B; Anari H; Farajollahi R; Rodbaneh EA; Jeddi F J Med Case Rep; 2024 Jan; 18(1):4. PubMed ID: 38178270 [TBL] [Abstract][Full Text] [Related]
15. Further delineation of the KAT6B molecular and phenotypic spectrum. Gannon T; Perveen R; Schlecht H; Ramsden S; Anderson B; Kerr B; Day R; Banka S; Suri M; Berland S; Gabbett M; Ma A; Lyonnet S; Cormier-Daire V; Yilmaz R; Borck G; Wieczorek D; Anderlid BM; Smithson S; Vogt J; Moore-Barton H; Simsek-Kiper PO; Maystadt I; Destrée A; Bucher J; Angle B; Mohammed S; Wakeling E; Price S; Singer A; Sznajer Y; Toutain A; Haye D; Newbury-Ecob R; Fradin M; McGaughran J; Tuysuz B; Tein M; Bouman K; Dabir T; Van den Ende J; Luk HM; Pilz DT; Eason J; Davies S; Reardon W; Garavelli L; Zuffardi O; Devriendt K; Armstrong R; Johnson D; Doco-Fenzy M; Bijlsma E; Unger S; Veenstra-Knol HE; Kohlhase J; Lo IF; ; Smith J; Clayton-Smith J Eur J Hum Genet; 2015 Sep; 23(9):1165-70. PubMed ID: 25424711 [TBL] [Abstract][Full Text] [Related]
16. Delineation of a Phenotype Caused by a Nishimura N; Enomoto Y; Kumaki T; Murakami H; Ikeda A; Goto T; Kurosawa K Mol Syndromol; 2022 May; 13(3):221-225. PubMed ID: 35707592 [TBL] [Abstract][Full Text] [Related]
17. An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. Yu HC; Geiger EA; Medne L; Zackai EH; Shaikh TH Am J Med Genet A; 2014 Apr; 164A(4):950-7. PubMed ID: 24458743 [TBL] [Abstract][Full Text] [Related]
18. Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? Lonardo F; Lonardo MS; Acquaviva F; Della Monica M; Scarano F; Scarano G Clin Genet; 2019 Feb; 95(2):253-261. PubMed ID: 28857140 [TBL] [Abstract][Full Text] [Related]
19. [A case of SBBYSS syndrome caused by KAT6B gene variant]. Lyu N; Shang Q; Li J; Ma C; Li D Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul; 36(7):727-730. PubMed ID: 31302922 [TBL] [Abstract][Full Text] [Related]
20. [Identification of a novel missense variant of the KAT6B gene in a child with Say-Barber-Biesecker-Young-Simpson syndrome]. Wu R; Tang W; Qiu K; Li Y; He Z Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Jun; 38(6):561-564. PubMed ID: 34096026 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]