262 related articles for article (PubMed ID: 31515782)
1. [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]
2. 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]
3. [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]
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. Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.
Kamenarova K; Simeonov E; Tzveova R; Dacheva D; Penkov M; Kremensky I; Perenovska P; Mitev V; Kaneva R
Hum Pathol; 2016 Jan; 47(1):144-9. PubMed ID: 26603346
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.
Yu S; Wu B; Qian Y; Zhang P; Lu Y; Dong X; Wang Q; Zhao X; Liu R; Zhou W; Wang H
Mol Genet Genomic Med; 2019 Dec; 7(12):e1009. PubMed ID: 31637876
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.
Yoo HJ; Kim K; Kim IH; Rho SH; Park JE; Lee KY; Kim SA; Choi BY; Kim N
Int J Mol Sci; 2015 Mar; 16(3):5697-713. PubMed ID: 25768348
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. First case of Rubinstein-Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene.
Wang L; Deng Y; Zhou XL; Ma JJ; Li W
Clin Exp Dermatol; 2019 Jul; 44(5):e205-e208. PubMed ID: 30614040
[TBL] [Abstract][Full Text] [Related]
15. Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.
de Vries TI; Monroe GR; van Belzen MJ; van der Lans CA; Savelberg SM; Newman WG; van Haaften G; Nievelstein RA; van Haelst MM
Eur J Hum Genet; 2016 Aug; 24(9):1363-6. PubMed ID: 26956253
[TBL] [Abstract][Full Text] [Related]
16. A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome.
Wang Q; Wang C; Wei WB; Rong WN; Shi XY
BMC Med Genomics; 2022 Aug; 15(1):182. PubMed ID: 35986282
[TBL] [Abstract][Full Text] [Related]
17. 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]
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. Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.
Sharma N; Mali AM; Bapat SA
J Biosci; 2010 Jun; 35(2):187-202. PubMed ID: 20689175
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
