216 related articles for article (PubMed ID: 17855048)
21. Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome.
Chiang PW; Lee NC; Chien N; Hwu WL; Spector E; Tsai AC
Am J Med Genet A; 2009 Jul; 149A(7):1463-7. PubMed ID: 19533794
[TBL] [Abstract][Full Text] [Related]
22. CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
Menke LA; van Belzen MJ; Alders M; Cristofoli F; ; Ehmke N; Fergelot P; Foster A; Gerkes EH; Hoffer MJ; Horn D; Kant SG; Lacombe D; Leon E; Maas SM; Melis D; Muto V; Park SM; Peeters H; Peters DJ; Pfundt R; van Ravenswaaij-Arts CM; Tartaglia M; Hennekam RC
Am J Med Genet A; 2016 Oct; 170(10):2681-93. PubMed ID: 27311832
[TBL] [Abstract][Full Text] [Related]
23. Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
Yoo HJ; Kim K; Kim IH; Rho SH; Park JE; Lee KY; Kim SA; Choi BY; Kim N
Int J Mol Sci; 2015 Mar; 16(3):5697-713. PubMed ID: 25768348
[TBL] [Abstract][Full Text] [Related]
24. Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.
Zimmermann N; Acosta AM; Kohlhase J; Bartsch O
Eur J Hum Genet; 2007 Aug; 15(8):837-42. PubMed ID: 17299436
[TBL] [Abstract][Full Text] [Related]
25. Case report: a Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene.
Bai Z; Li G; Kong X
BMC Med Genomics; 2023 Feb; 16(1):24. PubMed ID: 36797748
[TBL] [Abstract][Full Text] [Related]
26. Mutations in CREBBP and EP300 genes affect DNA repair of oxidative damage in Rubinstein-Taybi syndrome cells.
Dutto I; Scalera C; Tillhon M; Ticli G; Passaniti G; Cazzalini O; Savio M; Stivala LA; Gervasini C; Larizza L; Prosperi E
Carcinogenesis; 2020 May; 41(3):257-266. PubMed ID: 31504229
[TBL] [Abstract][Full Text] [Related]
27. A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
Eser M; Ayaz A; Yeşil G
Turk J Pediatr; 2017; 59(5):601-603. PubMed ID: 29745126
[TBL] [Abstract][Full Text] [Related]
28. A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome.
Lai AH; Brett MS; Chin WH; Lim EC; Ng JS; Tan EC
Gene; 2012 May; 499(1):182-5. PubMed ID: 22426292
[TBL] [Abstract][Full Text] [Related]
29. Rubinstein-Taybi Syndrome and Epigenetic Alterations.
Korzus E
Adv Exp Med Biol; 2017; 978():39-62. PubMed ID: 28523540
[TBL] [Abstract][Full Text] [Related]
30. iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.
Alari V; Russo S; Terragni B; Ajmone PF; Sironi A; Catusi I; Calzari L; Concolino D; Marotta R; Milani D; Giardino D; Mantegazza M; Gervasini C; Finelli P; Larizza L
Stem Cell Res; 2018 Jul; 30():130-140. PubMed ID: 29883886
[TBL] [Abstract][Full Text] [Related]
31. Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.
Al-Qattan MM; Jarman A; Rafique A; Al-Hassnan ZN; Al-Qattan HM
BMC Med Genet; 2019 Jan; 20(1):12. PubMed ID: 30635043
[TBL] [Abstract][Full Text] [Related]
32. Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome.
Kim SR; Kim HJ; Kim YJ; Kwon JY; Kim JW; Kim SH
Ann Clin Lab Sci; 2013; 43(4):450-6. PubMed ID: 24247805
[TBL] [Abstract][Full Text] [Related]
33. Rubinstein-Taybi syndrome and CREBBP c.201 202delTA mutation: a case presenting with varicella meningoencephalitis.
Çaksen H; Bartsch O; Okur M; Temel H; Açikgoz M; Yilmaz C
Genet Couns; 2009; 20(3):255-60. PubMed ID: 19852432
[TBL] [Abstract][Full Text] [Related]
34. Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Spena S; Milani D; Rusconi D; Negri G; Colapietro P; Elcioglu N; Bedeschi F; Pilotta A; Spaccini L; Ficcadenti A; Magnani C; Scarano G; Selicorni A; Larizza L; Gervasini C
Clin Genet; 2015 Nov; 88(5):431-40. PubMed ID: 25388907
[TBL] [Abstract][Full Text] [Related]
35. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Menke LA; ; Gardeitchik T; Hammond P; Heimdal KR; Houge G; Hufnagel SB; Ji J; Johansson S; Kant SG; Kinning E; Leon EL; Newbury-Ecob R; Paolacci S; Pfundt R; Ragge NK; Rinne T; Ruivenkamp C; Saitta SC; Sun Y; Tartaglia M; Terhal PA; van Essen AJ; Vigeland MD; Xiao B; Hennekam RC
Am J Med Genet A; 2018 Apr; 176(4):862-876. PubMed ID: 29460469
[TBL] [Abstract][Full Text] [Related]
36. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.
Bartholdi D; Roelfsema JH; Papadia F; Breuning MH; Niedrist D; Hennekam RC; Schinzel A; Peters DJ
J Med Genet; 2007 May; 44(5):327-33. PubMed ID: 17220215
[TBL] [Abstract][Full Text] [Related]
37. Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.
Van-Gils J; Naudion S; Toutain J; Lancelot G; Attié-Bitach T; Blesson S; Demeer B; Doray B; Gonzales M; Martinovic J; Whalen S; Taine L; Arveiler B; Lacombe D; Fergelot P
Clin Genet; 2019 Mar; 95(3):420-426. PubMed ID: 30633342
[TBL] [Abstract][Full Text] [Related]
38. Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.
Sharma N; Mali AM; Bapat SA
J Biosci; 2010 Jun; 35(2):187-202. PubMed ID: 20689175
[TBL] [Abstract][Full Text] [Related]
39. Rubinstein-Taybi syndrome in Chinese population with four novel mutations.
Yu PT; Luk HM; Lo IFM
Am J Med Genet A; 2021 Jan; 185(1):267-273. PubMed ID: 33063428
[TBL] [Abstract][Full Text] [Related]
40. A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome.
Wang Q; Wang C; Wei WB; Rong WN; Shi XY
BMC Med Genomics; 2022 Aug; 15(1):182. PubMed ID: 35986282
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
