| review article | Q7318358 |
| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1026343943 |
| P356 | DOI | 10.1038/SJ.EJHG.5201594 |
| P8608 | Fatcat ID | release_yn6aegnuhbg7bdz3dp5ahkfjf4 |
| P698 | PubMed publication ID | 16868563 |
| P5875 | ResearchGate publication ID | 6916938 |
| P2093 | author name string | Raoul C M Hennekam | |
| P2860 | cites work | A mouse model of Rubinstein-Taybi syndrome: defective long-term memory is ameliorated by inhibitors of phosphodiesterase 4 | Q24683143 |
| The CBP co-activator is a histone acetyltransferase | Q28131758 | ||
| Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease | Q33942130 | ||
| Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome | Q33971011 | ||
| Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature | Q34044210 | ||
| Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration. | Q34327866 | ||
| Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3). | Q35561415 | ||
| Tumors in Rubinstein-Taybi syndrome | Q40523618 | ||
| CREB-binding protein sequestration by expanded polyglutamine | Q40859094 | ||
| Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome | Q43074722 | ||
| Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome | Q44302108 | ||
| Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome. | Q51931095 | ||
| Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3. | Q54259626 | ||
| E1A-associated p300 and CREB-associated CBP belong to a conserved family of coactivators | Q64383507 | ||
| Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3) | Q70218396 | ||
| Rubinstein-Taybi syndrome and spontaneous keloids | Q71395029 | ||
| P433 | issue | 9 | |
| P304 | page(s) | 981-985 | |
| P577 | publication date | 2006-07-26 | |
| P1433 | published in | European Journal of Human Genetics | Q2155433 |
| P1476 | title | Rubinstein-Taybi syndrome. | |
| P478 | volume | 14 |
| Q86794263 | 0.5 Mb array as a first-line prenatal cytogenetic test in cases without ultrasound abnormalities and its implementation in clinical practice |
| Q34659228 | 16p13.3 duplication associated with non-syndromic pierre robin sequence with incomplete penetrance |
| Q90198689 | A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes |
| Q34363020 | A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation |
| Q37573844 | A de novo 11p13 Microduplication in a Patient with Some Features Invoking Silver-Russell Syndrome. |
| Q48672787 | Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome |
| Q33927405 | Alcohol exposure decreases CREB binding protein expression and histone acetylation in the developing cerebellum |
| Q90440953 | An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes |
| Q55230270 | Benign and malignant tumors in Rubinstein-Taybi syndrome. |
| Q41816299 | Brain size regulations by cbp haploinsufficiency evaluated by in-vivo MRI based volumetry |
| Q35847085 | Brain-derived neurotrophic factor and neuropsychiatric disorders |
| Q52850969 | CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. |
| Q45743584 | Cervical artery dissection in a young patient with Rubinstein-Taybi syndrome |
| Q34506868 | Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders |
| Q34043543 | Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire |
| Q39423291 | Chemical modulators for epigenome reader domains as emerging epigenetic therapies for cancer and inflammation |
| Q47128083 | Chemical probes and inhibitors of bromodomains outside the BET family |
| Q35808768 | Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report |
| Q55057647 | Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. |
| Q50045840 | Clinical features of Rubinstein-Taybi syndrome and novel mutation in the CREBBP gene: an analysis of one case |
| Q51906902 | Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. |
| Q38939596 | Confounding of the Association between Radiation Exposure from CT Scans and Risk of Leukemia and Brain Tumors by Cancer Susceptibility Syndromes |
| Q30886605 | Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization |
| Q28076446 | Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation Syndromes |
| Q36880624 | Dissociation of Cross-Sectional Trajectories for Verbal and Visuo-Spatial Working Memory Development in Rubinstein-Taybi Syndrome. |
| Q38987727 | Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes |
| Q56501909 | Epigenetic Mechanisms of Mental Retardation |
| Q37615626 | Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies |
| Q38175002 | Epigenetic mechanisms of Rubinstein-Taybi syndrome |
| Q38408408 | Epigenetics of the failing heart |
| Q48339206 | Evaluation of Motor Skills in Children with Rubinstein-Taybi Syndrome |
| Q51828362 | Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome |
| Q42409123 | Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome |
| Q97533922 | Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes |
| Q55058897 | Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome. |
| Q34104784 | Expression patterns of histone acetyltransferases p300 and CBP during murine tooth development |
| Q34487731 | Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome. |
| Q40408740 | From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks |
| Q52098862 | Gene-gene interaction of single nucleotide polymorphisms in 16p13.3 may contribute to the risk of non-syndromic cleft lip with or without cleft palate in Chinese case-parent trios. |
| Q90669133 | Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association |
| Q38212652 | Genetic disorders associated with postnatal microcephaly |
| Q43163937 | Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. |
| Q64098554 | Genetic regulation of linear growth |
| Q38078209 | Genetic syndromes caused by mutations in epigenetic genes |
| Q28651479 | Globularity and language-readiness: generating new predictions by expanding the set of genes of interest |
| Q55058364 | Growth charts for individuals with Rubinstein-Taybi syndrome. |
| Q40091167 | Ibuprofen induced DRESS Syndrome in a Child. |
| Q42209716 | Infantile glaucoma in Rubinstein-Taybi syndrome |
| Q55053138 | Inheritance and variable expression in Rubinstein–Taybi syndrome |
| Q42692796 | Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients |
| Q52151831 | Intellectual disability, muscle weakness and characteristic face in three siblings: A newly described recessive syndrome mapping to 3p24.3-p25.3. |
| Q91939457 | Is an analysis of copy number variants necessary for various types of kidney ultrasound anomalies in fetuses? |
| Q31148159 | Isolated macrocerebellum: description of six cases and literature review |
| Q92560096 | KMT2C/D COMPASS complex-associated diseases [KCDCOM-ADs]: an emerging class of congenital regulopathies |
| Q38240753 | Keloids in Rubinstein-Taybi syndrome: a clinical study |
| Q35215267 | Keloids: an unwanted spontaneity in rubinstein-taybi syndrome |
| Q28293618 | Keratoglobus |
| Q38085375 | Lysine acetyltransferases CBP and p300 as therapeutic targets in cognitive and neurodegenerative disorders. |
| Q57199592 | Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs |
| Q84656512 | Mental retardation, growth retardation, unusual nose, and open mouth: An autosomal recessive entity |
| Q30980239 | Meta-Analysis of Placental Transcriptome Data Identifies a Novel Molecular Pathway Related to Preeclampsia |
| Q26765017 | Modeling congenital disease and inborn errors of development in Drosophila melanogaster |
| Q33464340 | Molecular cytogenetics and cytogenomics of brain diseases |
| Q41691456 | Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes. |
| Q41855608 | Multiple keloids in a 16-year-old boy with Rubinstein-Taybi syndrome |
| Q90366893 | New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients |
| Q34596078 | Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia |
| Q34124194 | Perioperative management of a patient of Rubinstein-Taybi syndrome with ovarian cyst for laparotomy |
| Q36683045 | Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish |
| Q50302457 | Repetitive behavior in Rubinstein-Taybi syndrome: parallels with autism spectrum phenomenology |
| Q50420785 | Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum. |
| Q48226176 | Rubinstein-Taybi Syndrome in a Fetus: Contribution of 2- and 3-Dimensional Ultrasonography. |
| Q91790770 | Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect |
| Q38784692 | Rubinstein-Taybi syndrome with scoliosis |
| Q30577877 | Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature |
| Q36973859 | Rubinstein-Taybi syndrome: clinical and molecular overview |
| Q41136912 | Rubinstein-taybi syndrome with psychosis |
| Q55339733 | Septate Uterus in a Girl with Rubinstein-Taybi Syndrome. |
| Q34974535 | Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome |
| Q37122796 | Spatiotemporal expression of histone acetyltransferases, p300 and CBP, in developing embryonic hearts |
| Q28238635 | Targeting bromodomains: epigenetic readers of lysine acetylation |
| Q51316328 | The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein-Taybi syndrome. |
| Q34649133 | The role of genetics in the establishment and maintenance of the epigenome. |
| Q91729657 | The transcriptional coactivator and histone acetyltransferase CBP regulates neural precursor cell development and migration |
| Q26746231 | The world of protein acetylation |
| Q34727620 | Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome |
| Q47878462 | Transcription factors-Intricate players of the bone morphogenetic protein signaling pathway |
| Q36769600 | Visual preference for social stimuli in individuals with autism or neurodevelopmental disorders: an eye-tracking study. |
| Q35381318 | Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation |
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