187 related articles for article (PubMed ID: 26867510)
1. Electroclinical phenotype in Rubinstein-Taybi syndrome.
Giacobbe A; Ajmone PF; Milani D; Avignone S; Triulzi F; Gervasini C; Menni F; Monti F; Biffi D; Canavesi K; Costantino MA
Brain Dev; 2016 Jun; 38(6):563-70. PubMed ID: 26867510
[TBL] [Abstract][Full Text] [Related]
2. Rubinstein-Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach.
Ajmone PF; Avignone S; Gervasini C; Giacobbe A; Monti F; Costantino A; Esposito S; Marchisio P; Triulzi F; Milani D
Am J Med Genet B Neuropsychiatr Genet; 2018 Jun; 177(4):406-415. PubMed ID: 29637745
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.
Negri G; Milani D; Colapietro P; Forzano F; Della Monica M; Rusconi D; Consonni L; Caffi LG; Finelli P; Scarano G; Magnani C; Selicorni A; Spena S; Larizza L; Gervasini C
Clin Genet; 2015 Feb; 87(2):148-54. PubMed ID: 24476420
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
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. 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]
12. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.
Bartholdi D; Roelfsema JH; Papadia F; Breuning MH; Niedrist D; Hennekam RC; Schinzel A; Peters DJ
J Med Genet; 2007 May; 44(5):327-33. PubMed ID: 17220215
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Rubinstein-Taybi syndrome in diverse populations.
Tekendo-Ngongang C; Owosela B; Fleischer N; Addissie YA; Malonga B; Badoe E; Gupta N; Moresco A; Huckstadt V; Ashaat EA; Hussen DF; Luk HM; Lo IFM; Hon-Yin Chung B; Fung JLF; Moretti-Ferreira D; Batista LC; Lotz-Esquivel S; Saborio-Rocafort M; Badilla-Porras R; Penon Portmann M; Jones KL; Abdul-Rahman OA; Uwineza A; Prijoles EJ; Ifeorah IK; Llamos Paneque A; Sirisena ND; Dowsett L; Lee S; Cappuccio G; Kitchin CS; Diaz-Kuan A; Thong MK; Obregon MG; Mutesa L; Dissanayake VHW; El Ruby MO; Brunetti-Pierri N; Ekure EN; Stevenson RE; Muenke M; Kruszka P
Am J Med Genet A; 2020 Dec; 182(12):2939-2950. PubMed ID: 32985117
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein-Taybi Syndrome Phenotypes.
Wang Q; Xu W; Liu Y; Yuan H
J Mol Neurosci; 2021 Mar; 71(3):607-612. PubMed ID: 32839936
[TBL] [Abstract][Full Text] [Related]
17. Growth charts for individuals with Rubinstein-Taybi syndrome.
Beets L; Rodríguez-Fonseca C; Hennekam RC
Am J Med Genet A; 2014 Sep; 164A(9):2300-9. PubMed ID: 24989455
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.
Bartsch O; Schmidt S; Richter M; Morlot S; Seemanová E; Wiebe G; Rasi S
Hum Genet; 2005 Sep; 117(5):485-93. PubMed ID: 16021471
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]