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 *

155 related articles for article (PubMed ID: 37162176)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 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. Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.
    Saettini F; Fazio G; Bonati MT; Moratto D; Massa V; Di Fede E; Castiglioni S; Marchetti D; Chiarini M; Sottini A; Iascone M; Cazzaniga G; Imberti L; Biondi A; Gervasini C; Badolato R
    Am J Med Genet A; 2022 Jul; 188(7):2129-2134. PubMed ID: 35266289
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.
    Hadzsiev K; Gyorsok Z; Till A; Czakó M; Bartsch O
    Clin Dysmorphol; 2019 Jul; 28(3):137-141. PubMed ID: 30789376
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
    Negri G; Magini P; Milani D; Colapietro P; Rusconi D; Scarano E; Bonati MT; Priolo M; Crippa M; Mazzanti L; Wischmeijer A; Tamburrino F; Pippucci T; Finelli P; Larizza L; Gervasini C
    Hum Mutat; 2016 Feb; 37(2):175-83. PubMed ID: 26486927
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.
    Wild KT; Nomakuchi TT; Sheppard SE; Leavens KF; De León DD; Zackai EH
    Am J Med Genet A; 2021 Apr; 185(4):1251-1255. PubMed ID: 33442921
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
    Negri G; Magini P; Milani D; Crippa M; Biamino E; Piccione M; Sotgiu S; Perrìa C; Vitiello G; Frontali M; Boni A; Di Fede E; Gandini MC; Colombo EA; Bamshad MJ; Nickerson DA; Smith JD; Loddo I; Finelli P; Seri M; Pippucci T; Larizza L; Gervasini C
    Hum Genet; 2019 Mar; 138(3):257-269. PubMed ID: 30806792
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.
    Cross E; Duncan-Flavell PJ; Howarth RJ; Hobbs JI; Thomas NS; Bunyan DJ
    Am J Med Genet A; 2020 Nov; 182(11):2508-2520. PubMed ID: 32827181
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.