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Rubinstein-Taybi syndrome相关文献:
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J, Magdinier F, Fergelot P, Lacombe D.
Genes (Basel). 2021 Jun 24;12(7):968. doi: 10.3390/genes12070968.
PMID:34202860
Rubinstein-Taybi Syndrome.
Hutchinson DT, Sullivan R.
J Hand Surg Am. 2015 Aug;40(8):1711-2. doi: 10.1016/j.jhsa.2014.08.043. Epub 2015 Jul 1.
PMID:26143027
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.
J Med Genet. 2024 May 21;61(6):503-519. doi: 10.1136/jmg-2023-109438.
PMID:38471765
Rubinstein-Taybi syndrome.
Ravella R, George P.
Indian J Med Res. 2020 Nov;152(Suppl 1):S236-S237. doi: 10.4103/ijmr.IJMR_2399_19.
PMID:35345227
Rubinstein-Taybi syndrome.
Hennekam RC.
Eur J Hum Genet. 2006 Sep;14(9):981-5. doi: 10.1038/sj.ejhg.5201594. Epub 2006 Jul 26.
PMID:16868563
Dermatological findings in Rubinstein-Taybi Syndrome.
Cammarata-Scalisi F, Diociaiuti A, Cárdenas Tadich A, Sandoval X, Oranges T, Filippeschi C, Araya Castillo M, Willoughby CE, Cerri A, Gervasini C, Callea M.
Ital J Dermatol Venerol. 2023 Aug;158(4):316-320. doi: 10.23736/S2784-8671.23.07547-3. Epub 2023 Jun 7.
PMID:37282850
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.
Am J Med Genet A. 2022 Sep;188(9):2536-2554. doi: 10.1002/ajmg.a.62867. Epub 2022 Jun 21.
PMID:35730128
Rubinstein-Taybi syndrome.
Kosaki R.
Nihon Rinsho. 2017 Mar;75(3):498-503.
PMID:30566799
Rubinstein-Taybi syndrome in diverse populations.
Tekendo-Ngongang C, Owosela B, Fleischer N, Addissie YA, Malonga B, Badoe E, Gupta N, Moresco A, Huckstadt V, Ashaat EA, Hussen DF, Luk HM, Lo IFM, Hon-Yin Chung B, Fung JLF, Moretti-Ferreira D, Batista LC, Lotz-Esquivel S, Saborio-Rocafort M, Badilla-Porras R, Penon Portmann M, Jones KL, Abdul-Rahman OA, Uwineza A, Prijoles EJ, Ifeorah IK, Llamos Paneque A, Sirisena ND, Dowsett L, Lee S, Cappuccio G, Kitchin CS, Diaz-Kuan A, Thong MK, Obregon MG, Mutesa L, Dissanayake VHW, El Ruby MO, Brunetti-Pierri N, Ekure EN, Stevenson RE, Muenke M, Kruszka P.
Am J Med Genet A. 2020 Dec;182(12):2939-2950. doi: 10.1002/ajmg.a.61888. Epub 2020 Sep 27.
PMID:32985117
Rubinstein-Taybi syndrome medical guidelines.
Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA.
Am J Med Genet A. 2003 Jun 1;119A(2):101-10. doi: 10.1002/ajmg.a.10009.
PMID:12749047
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