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 *

249 related articles for article (PubMed ID: 24476420)

  • 21. 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]  

  • 22. EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
    Cohen JL; Schrier Vergano SA; Mazzola S; Strong A; Keena B; McDougall C; Ritter A; Li D; Bedoukian EC; Burke LW; Hoffman A; Zurcher V; Krantz ID; Izumi K; Bhoj E; Zackai EH; Deardorff MA
    Am J Med Genet A; 2020 Dec; 182(12):2926-2938. PubMed ID: 33043588
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. 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]  

  • 25. Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.
    Lee JS; Byun CK; Kim H; Lim BC; Hwang H; Choi JE; Hwang YS; Seong MW; Park SS; Kim KJ; Chae JH
    Brain Dev; 2015 Apr; 37(4):402-8. PubMed ID: 25108505
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.
    Foley P; Bunyan D; Stratton J; Dillon M; Lynch SA
    Am J Med Genet A; 2009 May; 149A(5):997-1000. PubMed ID: 19353645
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
    Rusconi D; Negri G; Colapietro P; Picinelli C; Milani D; Spena S; Magnani C; Silengo MC; Sorasio L; Curtisova V; Cavaliere ML; Prontera P; Stangoni G; Ferrero GB; Biamino E; Fischetto R; Piccione M; Gasparini P; Salviati L; Selicorni A; Finelli P; Larizza L; Gervasini C
    Hum Genet; 2015 Jun; 134(6):613-26. PubMed ID: 25805166
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
    Lopez-Atalaya JP; Gervasini C; Mottadelli F; Spena S; Piccione M; Scarano G; Selicorni A; Barco A; Larizza L
    J Med Genet; 2012 Jan; 49(1):66-74. PubMed ID: 21984751
    [TBL] [Abstract][Full Text] [Related]  

  • 29. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.
    Bartsch O; Schmidt S; Richter M; Morlot S; Seemanová E; Wiebe G; Rasi S
    Hum Genet; 2005 Sep; 117(5):485-93. PubMed ID: 16021471
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. 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]  

  • 32. Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly.
    Park JE; Kim E; Lee DW; Park TK; Kim MS; Jang SY; Ahn J; Park KB; Kim KH; Park HC; Ki CS; Kim DK
    Sci Rep; 2021 Aug; 11(1):15931. PubMed ID: 34354133
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Syndromic features and mild cognitive impairment in mice with genetic reduction on p300 activity: Differential contribution of p300 and CBP to Rubinstein-Taybi syndrome etiology.
    Viosca J; Lopez-Atalaya JP; Olivares R; Eckner R; Barco A
    Neurobiol Dis; 2010 Jan; 37(1):186-94. PubMed ID: 19822209
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. 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]  

  • 36. 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]  

  • 37. High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.
    Gervasini C; Mottadelli F; Ciccone R; Castronovo P; Milani D; Scarano G; Bedeschi MF; Belli S; Pilotta A; Selicorni A; Zuffardi O; Larizza L
    Eur J Hum Genet; 2010 Jul; 18(7):768-75. PubMed ID: 20125191
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 13.