295 related articles for article (PubMed ID: 26603346)
21. From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.
Negri G; Magini P; Milani D; Colapietro P; Rusconi D; Scarano E; Bonati MT; Priolo M; Crippa M; Mazzanti L; Wischmeijer A; Tamburrino F; Pippucci T; Finelli P; Larizza L; Gervasini C
Hum Mutat; 2016 Feb; 37(2):175-83. PubMed ID: 26486927
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children.
Tang H; Guo J; Linpeng S; Wu L
Orphanet J Rare Dis; 2019 Feb; 14(1):45. PubMed ID: 30770747
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. 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]
27. Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.
Spena S; Milani D; Rusconi D; Negri G; Colapietro P; Elcioglu N; Bedeschi F; Pilotta A; Spaccini L; Ficcadenti A; Magnani C; Scarano G; Selicorni A; Larizza L; Gervasini C
Clin Genet; 2015 Nov; 88(5):431-40. PubMed ID: 25388907
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.
Gervasini C; Mottadelli F; Ciccone R; Castronovo P; Milani D; Scarano G; Bedeschi MF; Belli S; Pilotta A; Selicorni A; Zuffardi O; Larizza L
Eur J Hum Genet; 2010 Jul; 18(7):768-75. PubMed ID: 20125191
[TBL] [Abstract][Full Text] [Related]
31. Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders.
Negri G; Magini P; Milani D; Crippa M; Biamino E; Piccione M; Sotgiu S; Perrìa C; Vitiello G; Frontali M; Boni A; Di Fede E; Gandini MC; Colombo EA; Bamshad MJ; Nickerson DA; Smith JD; Loddo I; Finelli P; Seri M; Pippucci T; Larizza L; Gervasini C
Hum Genet; 2019 Mar; 138(3):257-269. PubMed ID: 30806792
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.
Lopez-Atalaya JP; Gervasini C; Mottadelli F; Spena S; Piccione M; Scarano G; Selicorni A; Barco A; Larizza L
J Med Genet; 2012 Jan; 49(1):66-74. PubMed ID: 21984751
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. 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]
36. 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]
37. A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome.
Lai AH; Brett MS; Chin WH; Lim EC; Ng JS; Tan EC
Gene; 2012 May; 499(1):182-5. PubMed ID: 22426292
[TBL] [Abstract][Full Text] [Related]
38. Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia.
Marzuillo P; Grandone A; Coppola R; Cozzolino D; Festa A; Messa F; Luongo C; Del Giudice EM; Perrone L
BMC Med Genet; 2013 Feb; 14():28. PubMed ID: 23432975
[TBL] [Abstract][Full Text] [Related]
39. 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]
40. Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.
Rokunohe D; Nakano H; Akasaka E; Toyomaki Y; Sawamura D
J Dermatol Sci; 2016 Sep; 83(3):240-2. PubMed ID: 27342041
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]