174 related articles for article (PubMed ID: 30633342)
1. 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]
2. 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]
3. 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]
4. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.
Fergelot P; Van Belzen M; Van Gils J; Afenjar A; Armour CM; Arveiler B; Beets L; Burglen L; Busa T; Collet M; Deforges J; de Vries BB; Dominguez Garrido E; Dorison N; Dupont J; Francannet C; Garciá-Minaúr S; Gabau Vila E; Gebre-Medhin S; Gener Querol B; Geneviève D; Gérard M; Gervasini CG; Goldenberg A; Josifova D; Lachlan K; Maas S; Maranda B; Moilanen JS; Nordgren A; Parent P; Rankin J; Reardon W; Rio M; Roume J; Shaw A; Smigiel R; Sojo A; Solomon B; Stembalska A; Stumpel C; Suarez F; Terhal P; Thomas S; Touraine R; Verloes A; Vincent-Delorme C; Wincent J; Peters DJ; Bartsch O; Larizza L; Lacombe D; Hennekam RC
Am J Med Genet A; 2016 Dec; 170(12):3069-3082. PubMed ID: 27648933
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
Menke LA; ; Gardeitchik T; Hammond P; Heimdal KR; Houge G; Hufnagel SB; Ji J; Johansson S; Kant SG; Kinning E; Leon EL; Newbury-Ecob R; Paolacci S; Pfundt R; Ragge NK; Rinne T; Ruivenkamp C; Saitta SC; Sun Y; Tartaglia M; Terhal PA; van Essen AJ; Vigeland MD; Xiao B; Hennekam RC
Am J Med Genet A; 2018 Apr; 176(4):862-876. PubMed ID: 29460469
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Case report: a Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene.
Bai Z; Li G; Kong X
BMC Med Genomics; 2023 Feb; 16(1):24. PubMed ID: 36797748
[TBL] [Abstract][Full Text] [Related]
15. Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.
Saettini F; Fazio G; Bonati MT; Moratto D; Massa V; Di Fede E; Castiglioni S; Marchetti D; Chiarini M; Sottini A; Iascone M; Cazzaniga G; Imberti L; Biondi A; Gervasini C; Badolato R
Am J Med Genet A; 2022 Jul; 188(7):2129-2134. PubMed ID: 35266289
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]
