138 related articles for article (PubMed ID: 37282850)
21. First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.
López M; Seidel V; Santibáñez P; Cervera-Acedo C; Castro-de Castro P; Domínguez-Garrido E
BMC Med Genet; 2016 Dec; 17(1):97. PubMed ID: 27964710
[TBL] [Abstract][Full Text] [Related]
22. Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.
Milani D; Manzoni FM; Pezzani L; Ajmone P; Gervasini C; Menni F; Esposito S
Ital J Pediatr; 2015 Jan; 41():4. PubMed ID: 25599811
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Rubinstein-Taybi syndrome: clinical and molecular overview.
Roelfsema JH; Peters DJ
Expert Rev Mol Med; 2007 Aug; 9(23):1-16. PubMed ID: 17942008
[TBL] [Abstract][Full Text] [Related]
25. Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J; Magdinier F; Fergelot P; Lacombe D
Genes (Basel); 2021 Jun; 12(7):. PubMed ID: 34202860
[TBL] [Abstract][Full Text] [Related]
26. Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome.
Huh R; Cho SY; Kim J; Ki CS; Jin DK
Ann Clin Lab Sci; 2015; 45(4):458-61. PubMed ID: 26275701
[TBL] [Abstract][Full Text] [Related]
27. Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
de Vries TI; Monroe GR; van Belzen MJ; van der Lans CA; Savelberg SM; Newman WG; van Haaften G; Nievelstein RA; van Haelst MM
Eur J Hum Genet; 2016 Aug; 24(9):1363-6. PubMed ID: 26956253
[TBL] [Abstract][Full Text] [Related]
28. De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia.
Huang X; Rui X; Zhang S; Qi X; Rong W; Sheng X
BMC Med Genomics; 2023 Apr; 16(1):84. PubMed ID: 37085840
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. Novel heterozygous variants in the EP300 gene cause Rubinstein-Taybi syndrome 2: Reports from two Chinese children.
Du C; Li Z; Zou B; Li X; Chen F; Liang Y; Luo X; Shu S
Mol Genet Genomic Med; 2023 Sep; 11(9):e2192. PubMed ID: 37162176
[TBL] [Abstract][Full Text] [Related]
32. Two adults with Rubinstein-Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers.
Wieczorek D; Bartsch O; Lechno S; Kohlhase J; Peters DJ; Dauwerse H; Gillessen-Kaesbach G; Hennekam RC; Passarge E
Am J Med Genet A; 2009 Dec; 149A(12):2849-54. PubMed ID: 19938080
[TBL] [Abstract][Full Text] [Related]
33. Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.
Ajmone PF; Avignone S; Gervasini C; Giacobbe A; Monti F; Costantino A; Esposito S; Marchisio P; Triulzi F; Milani D
Am J Med Genet B Neuropsychiatr Genet; 2018 Jun; 177(4):406-415. PubMed ID: 29637745
[TBL] [Abstract][Full Text] [Related]
34. First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene.
Wang L; Deng Y; Zhou XL; Ma JJ; Li W
Clin Exp Dermatol; 2019 Jul; 44(5):e205-e208. PubMed ID: 30614040
[TBL] [Abstract][Full Text] [Related]
35. Rubinstein-Taybi syndrome with multiple flamboyant keloids.
Hendrix JD; Greer KE
Cutis; 1996 May; 57(5):346-8. PubMed ID: 8726717
[TBL] [Abstract][Full Text] [Related]
36. [Dermatological stigmata in Rubinstein-Taybi syndrome].
Harth W; Linse R
Hautarzt; 2001 Oct; 52(10 Pt 2):977-9. PubMed ID: 11715398
[TBL] [Abstract][Full Text] [Related]
37. [Clinical and genetic analysis of two cases with Rubinstein-Taybi syndrome].
Tang F; Li Z; Cheng X; Su N; Yan L; Gou P; Gong C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Sep; 36(9):886-889. PubMed ID: 31515782
[TBL] [Abstract][Full Text] [Related]
38. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
Negri G; Milani D; Colapietro P; Forzano F; Della Monica M; Rusconi D; Consonni L; Caffi LG; Finelli P; Scarano G; Magnani C; Selicorni A; Spena S; Larizza L; Gervasini C
Clin Genet; 2015 Feb; 87(2):148-54. PubMed ID: 24476420
[TBL] [Abstract][Full Text] [Related]
39. Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.
Jin E; Le H; Jewell A; Couser NL
Ophthalmic Genet; 2024 Feb; 45(1):51-58. PubMed ID: 37017262
[TBL] [Abstract][Full Text] [Related]
40. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.
Bartsch O; Labonté J; Albrecht B; Wieczorek D; Lechno S; Zechner U; Haaf T
Am J Med Genet A; 2010 Jan; 152A(1):181-4. PubMed ID: 20014264
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
