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 *

265 related articles for article (PubMed ID: 31515782)

  • 1. [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]  

  • 2. 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]  

  • 3. [CREBBP gene mutation in two boys with Rubinstein-Taybi syndrome].
    Zhang J; Wang C; Li M; Qiu Z
    Zhonghua Er Ke Za Zhi; 2014 Sep; 52(9):673-7. PubMed ID: 25476429
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
    López M; García-Oguiza A; Armstrong J; García-Cobaleda I; García-Miñaur S; Santos-Simarro F; Seidel V; Domínguez-Garrido E
    BMC Med Genet; 2018 Mar; 19(1):36. PubMed ID: 29506490
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.
    Pérez-Grijalba V; García-Oguiza A; López M; Armstrong J; García-Miñaur S; Mesa-Latorre JM; O'Callaghan M; Pineda Marfa M; Ramos-Arroyo MA; Santos-Simarro F; Seidel V; Domínguez-Garrido E
    Mol Genet Genomic Med; 2019 Nov; 7(11):e972. PubMed ID: 31566936
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.
    Yu S; Wu B; Qian Y; Zhang P; Lu Y; Dong X; Wang Q; Zhao X; Liu R; Zhou W; Wang H
    Mol Genet Genomic Med; 2019 Dec; 7(12):e1009. PubMed ID: 31637876
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.
    Choi N; Kim HY; Lim BC; Chae JH; Kim SY; Ko JM
    Mol Genet Genomic Med; 2021 Oct; 9(10):e1791. PubMed ID: 34427995
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
    Hamilton MJ; Newbury-Ecob R; Holder-Espinasse M; Yau S; Lillis S; Hurst JA; Clement E; Reardon W; Joss S; Hobson E; Blyth M; Al-Shehhi M; Lynch SA; Suri M;
    Clin Dysmorphol; 2016 Oct; 25(4):135-45. PubMed ID: 27465822
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EP300 genes.
    Caglayan AO; Lechno S; Gumus H; Bartsch O; Fryns JP
    Genet Couns; 2011; 22(4):341-6. PubMed ID: 22303793
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.