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148 results

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Page 1
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. J Med Genet. 2024 May 21;61(6):503-519. doi: 10.1136/jmg-2023-109438. J Med Genet. 2024. PMID: 38471765 Free PMC article. Review.
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. ...As a group …
Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual …
Rubinstein-Taybi syndrome.
Kosaki R. Kosaki R. Nihon Rinsho. 2017 Mar;75(3):498-503. Nihon Rinsho. 2017. PMID: 30566799 English, Japanese.
Rubinstein-Taybi syndrome (RTS) is characterized by moderate to severe intellectual disability, distinctive facial features, and broad thumbs and great toes. RTS is caused by haploinsufficiency of CREBBP or EP300 gene....
Rubinstein-Taybi syndrome (RTS) is characterized by moderate to severe intellectual disability, distinctive faci …
The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature.
Awan N, Pearson E, Shelley L, Greenhill C, Tarver J, Waite J. Awan N, et al. Am J Med Genet A. 2022 Sep;188(9):2536-2554. doi: 10.1002/ajmg.a.62867. Epub 2022 Jun 21. Am J Med Genet A. 2022. PMID: 35730128 Free PMC article. Review.
Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facial characteristics, microcephaly, developmental delay, broad thumbs, and big toes. ...Recommendations are made for future research studies in …
Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facia …
Rubinstein-Taybi syndrome medical guidelines.
Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Wiley S, et al. Am J Med Genet A. 2003 Jun 1;119A(2):101-10. doi: 10.1002/ajmg.a.10009. Am J Med Genet A. 2003. PMID: 12749047 Review.
Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency than the general population. Based on the available information from the literature and clinical experience, recommendations for specific sur …
Children and adults with Rubinstein-Taybi Syndrome have specific medical conditions that occur with greater frequency t …
Adults with Rubinstein-Taybi syndrome.
Stevens CA, Pouncey J, Knowles D. Stevens CA, et al. Am J Med Genet A. 2011 Jul;155A(7):1680-4. doi: 10.1002/ajmg.a.34058. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671385
We conducted a questionnaire study of adults with Rubinstein-Taybi syndrome that addressed medical problems, education, independence, and behavior. ...Long-term involvement of geneticists and education of adult primary care providers may help with many of the …
We conducted a questionnaire study of adults with Rubinstein-Taybi syndrome that addressed medical problems, education, …
Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction.
Hallam TM, Bourtchouladze R. Hallam TM, et al. Cell Mol Life Sci. 2006 Aug;63(15):1725-35. doi: 10.1007/s00018-005-5555-8. Cell Mol Life Sci. 2006. PMID: 16786226 Free PMC article. Review.
Rubinstein-Taybi syndrome (RTS) is a rare human genetic disorder characterized by mental retardation and physical abnormalities. ...Finally, we will discuss novel therapeutic approaches targeted to CBP/CREB function for treating the cognitive dysfuncti …
Rubinstein-Taybi syndrome (RTS) is a rare human genetic disorder characterized by mental retardation and physica …
Neurosurgical Management of Rubinstein-Taybi Syndrome: An Institutional Experience.
Shanahan RM, Hudson JS, Piazza MG, Kehinde F, Anand SK, Ortiz D, Madan-Khetarpal S, Greene S. Shanahan RM, et al. Pediatr Neurosurg. 2024 Aug 19:1-12. doi: 10.1159/000540931. Online ahead of print. Pediatr Neurosurg. 2024. PMID: 39159611
INTRODUCTION: Rubinstein-Taybi syndrome (RTS) is a rare genetic condition with a distinctive set of physical features. ...One patient (5%) had Chiari-associated syringomyelia. CONCLUSIONS: RTS patients have an increased rate of tethered cord …
INTRODUCTION: Rubinstein-Taybi syndrome (RTS) is a rare genetic condition with a distinctive set of physical fea …
Epigenetic mechanisms of Rubinstein-Taybi syndrome.
Park E, Kim Y, Ryu H, Kowall NW, Lee J, Ryu H. Park E, et al. Neuromolecular Med. 2014 Mar;16(1):16-24. doi: 10.1007/s12017-013-8285-3. Epub 2014 Jan 1. Neuromolecular Med. 2014. PMID: 24381114 Free PMC article.
Rubinstein-Taybi syndrome (RTS) is an incurable genetic disorder with combination of mental retardation and physical features including broad thumbs and toes, craniofacial abnormalities, and growth deficiency. While the autosomal dominant mode of trans …
Rubinstein-Taybi syndrome (RTS) is an incurable genetic disorder with combination of mental retardation and phys …
Rubinstein-Taybi syndrome.
Cheung WS. Cheung WS. J Can Dent Assoc. 1989 Oct;55(10):821-2. J Can Dent Assoc. 1989. PMID: 2679994
A case of Rubinstein-Taybi syndrome (RTS) is presented. The syndrome is characterized by broad thumbs and great toes, peculiar facial features and mental retardation. ...
A case of Rubinstein-Taybi syndrome (RTS) is presented. The syndrome is characterized by broad thumbs and …
[Rubinstein-Taybi syndrome].
Lacombe D. Lacombe D. Arch Pediatr. 1994 Jul;1(7):681-3. Arch Pediatr. 1994. PMID: 7987469 Review. French.
The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by mental and growth retardation, broad thumbs, broad big toes, and typical face. A locus for a gene involved in the origin of RTS has been d …
The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by menta …
148 results