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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

236 related articles for article (PubMed ID: 20125191)

  • 21. 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]  

  • 22. Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.
    Kamenarova K; Simeonov E; Tzveova R; Dacheva D; Penkov M; Kremensky I; Perenovska P; Mitev V; Kaneva R
    Hum Pathol; 2016 Jan; 47(1):144-9. PubMed ID: 26603346
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
    Fergelot P; Van Belzen M; Van Gils J; Afenjar A; Armour CM; Arveiler B; Beets L; Burglen L; Busa T; Collet M; Deforges J; de Vries BB; Dominguez Garrido E; Dorison N; Dupont J; Francannet C; Garciá-Minaúr S; Gabau Vila E; Gebre-Medhin S; Gener Querol B; Geneviève D; Gérard M; Gervasini CG; Goldenberg A; Josifova D; Lachlan K; Maas S; Maranda B; Moilanen JS; Nordgren A; Parent P; Rankin J; Reardon W; Rio M; Roume J; Shaw A; Smigiel R; Sojo A; Solomon B; Stembalska A; Stumpel C; Suarez F; Terhal P; Thomas S; Touraine R; Verloes A; Vincent-Delorme C; Wincent J; Peters DJ; Bartsch O; Larizza L; Lacombe D; Hennekam RC
    Am J Med Genet A; 2016 Dec; 170(12):3069-3082. PubMed ID: 27648933
    [TBL] [Abstract][Full Text] [Related]  

  • 24. [Clinical and genetic characteristics of 21 children with Rubinstein-Taybi syndrome].
    Yang SH; Liu HR; Li JY; Zhang Y; Liu ZQ; Wang L; Chen XL; Shangguan SF
    Zhonghua Er Ke Za Zhi; 2024 Mar; 62(4):351-356. PubMed ID: 38527506
    [No Abstract]   [Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. Rubinstein-Taybi Syndrome and Epigenetic Alterations.
    Korzus E
    Adv Exp Med Biol; 2017; 978():39-62. PubMed ID: 28523540
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome.
    Elalaoui SC; Smaili W; Van-Gils J; Fergelot P; Ratbi I; Tajir M; Arveiler B; Lacombe D; Sefiani A
    Afr Health Sci; 2021 Jun; 21(2):960-967. PubMed ID: 34795756
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication.
    Lee CG; Cho E; Ahn YM
    Eur J Med Genet; 2016 Apr; 59(4):210-4. PubMed ID: 26873618
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. CREBBP gene mutation in an infant with Rubinstein-Taybi syndrome.
    Shen J; Zhao M; Zeng Z; He W; Chen C
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2020 Feb; 45(2):198-203. PubMed ID: 32386048
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
    Enomoto Y; Yokoi T; Tsurusaki Y; Murakami H; Tominaga M; Minatogawa M; Abe-Hatano C; Kuroda Y; Ohashi I; Ida K; Shiiya S; Kumaki T; Naruto T; Mitsui J; Harada N; Kido Y; Kurosawa K
    Clin Genet; 2022 Mar; 101(3):335-345. PubMed ID: 34958122
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. 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]  

  • 38. 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]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 12.