336 related articles for article (PubMed ID: 17299436)
21. Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome.
Wild KT; Nomakuchi TT; Sheppard SE; Leavens KF; De León DD; Zackai EH
Am J Med Genet A; 2021 Apr; 185(4):1251-1255. PubMed ID: 33442921
[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. Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
Solomon BD; Bodian DL; Khromykh A; Mora GG; Lanpher BC; Iyer RK; Baveja R; Vockley JG; Niederhuber JE
Am J Med Genet A; 2015 May; 167A(5):1111-6. PubMed ID: 25712426
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability.
Alari V; Russo S; Terragni B; Ajmone PF; Sironi A; Catusi I; Calzari L; Concolino D; Marotta R; Milani D; Giardino D; Mantegazza M; Gervasini C; Finelli P; Larizza L
Stem Cell Res; 2018 Jul; 30():130-140. PubMed ID: 29883886
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly.
Park JE; Kim E; Lee DW; Park TK; Kim MS; Jang SY; Ahn J; Park KB; Kim KH; Park HC; Ki CS; Kim DK
Sci Rep; 2021 Aug; 11(1):15931. PubMed ID: 34354133
[TBL] [Abstract][Full Text] [Related]
28. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.
Foley P; Bunyan D; Stratton J; Dillon M; Lynch SA
Am J Med Genet A; 2009 May; 149A(5):997-1000. PubMed ID: 19353645
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients.
Cohen JL; Schrier Vergano SA; Mazzola S; Strong A; Keena B; McDougall C; Ritter A; Li D; Bedoukian EC; Burke LW; Hoffman A; Zurcher V; Krantz ID; Izumi K; Bhoj E; Zackai EH; Deardorff MA
Am J Med Genet A; 2020 Dec; 182(12):2926-2938. PubMed ID: 33043588
[TBL] [Abstract][Full Text] [Related]
31. Syndromic features and mild cognitive impairment in mice with genetic reduction on p300 activity: Differential contribution of p300 and CBP to Rubinstein-Taybi syndrome etiology.
Viosca J; Lopez-Atalaya JP; Olivares R; Eckner R; Barco A
Neurobiol Dis; 2010 Jan; 37(1):186-94. PubMed ID: 19822209
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Screening of a large Rubinstein-Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain.
Cross E; Duncan-Flavell PJ; Howarth RJ; Hobbs JI; Thomas NS; Bunyan DJ
Am J Med Genet A; 2020 Nov; 182(11):2508-2520. PubMed ID: 32827181
[TBL] [Abstract][Full Text] [Related]
34. [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]
35. 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]
36. 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]
37. 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]
38. Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.
Woods SA; Robinson HB; Kohler LJ; Agamanolis D; Sterbenz G; Khalifa M
Am J Med Genet A; 2014 Jan; 164A(1):251-8. PubMed ID: 24352918
[TBL] [Abstract][Full Text] [Related]
39. High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.
Gervasini C; Castronovo P; Bentivegna A; Mottadelli F; Faravelli F; Giovannucci-Uzielli ML; Pessagno A; Lucci-Cordisco E; Pinto AM; Salviati L; Selicorni A; Tenconi R; Neri G; Larizza L
Genomics; 2007 Nov; 90(5):567-73. PubMed ID: 17855048
[TBL] [Abstract][Full Text] [Related]
40. Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
Bentivegna A; Milani D; Gervasini C; Castronovo P; Mottadelli F; Manzini S; Colapietro P; Giordano L; Atzeri F; Divizia MT; Uzielli ML; Neri G; Bedeschi MF; Faravelli F; Selicorni A; Larizza L
BMC Med Genet; 2006 Oct; 7():77. PubMed ID: 17052327
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]