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4. 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]
5. Rubinstein-Taybi syndrome. Review of 732 cases and analysis of the typical traits. Cantani A; Gagliesi D Eur Rev Med Pharmacol Sci; 1998; 2(2):81-7. PubMed ID: 10229563 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. [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]
9. 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]
10. Rubinstein-Taybi Syndrome in a Fetus: Contribution of 2- and 3-Dimensional Ultrasonography. Cardalliac C; Vincent M; Joubert M; Le Vaillant C J Ultrasound Med; 2018 Feb; 37(2):531-534. PubMed ID: 28815748 [No Abstract] [Full Text] [Related]
11. Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature. Naik JM; Naik MN; Ali MJ Orbit; 2019 Aug; 38(4):335-337. PubMed ID: 30183454 [TBL] [Abstract][Full Text] [Related]
12. Dominant inheritance of a syndrome similar to Rubinstein-Taybi. Cotsirilos P; Taylor JC; Matalon R Am J Med Genet; 1987 Jan; 26(1):85-93. PubMed ID: 3812583 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. [A case of Rubinstein-Taybi syndrome with bilateral vesicoureteral reflux]. Miura N; Ito H; Minakami H; Suzuki F; Nishikawa Y; Ueda T; Kotake T Hinyokika Kiyo; 1994 Jan; 40(1):75-7. PubMed ID: 7906491 [TBL] [Abstract][Full Text] [Related]
17. Rubinstein-Taybi syndrome: a rare case report of a female child emphasizing physiotherapy on gross motor function. Kovela RK; Qureshi MI; Manakandathil A; Sinha MK; Dinesh N; Harjpal P Pan Afr Med J; 2021; 40():85. PubMed ID: 34909074 [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. Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3. Lacombe D; Saura R; Taine L; Battin J Am J Med Genet; 1992 Sep; 44(1):126-8. PubMed ID: 1519642 [TBL] [Abstract][Full Text] [Related]
20. [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] [Next] [New Search]