Caregivers of Individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1464
Abstract: Rubinstein-Taybi syndrome (RTS) is a rare genetic disorder. Family-centered care (FCC) is a healthcare delivery approach that aims to create an equal partnership between caregivers and providers. FCC has been shown to improve parental wellbeing,… read more here.
Keywords: individuals rts; caregivers individuals; rubinstein taybi; care ... See more keywords
Diverse Profiles of Anxiety Related Disorders in Fragile X, Cornelia de Lange and Rubinstein–Taybi Syndromes
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Autism and Developmental Disorders"
DOI: 10.1007/s10803-016-3015-y
Abstract: Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein–Taybi… read more here.
Keywords: symptomatology; anxiety; rubinstein taybi; taybi syndromes ... See more keywords
Transcriptome Analysis of iPSC-Derived Neurons from Rubinstein-Taybi Patients Reveals Deficits in Neuronal Differentiation
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Neurobiology"
DOI: 10.1007/s12035-020-01983-6
Abstract: Rubinstein-Taybi syndrome (RSTS) is a rare multisystem developmental disorder with moderate to severe intellectual disability caused by heterozygous mutations of either CREBBP or EP300 genes encoding CBP/p300 chromatin regulators. We explored the gene programs and… read more here.
Keywords: transcriptome analysis; derived neurons; rubinstein taybi; differentiation ... See more keywords
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.
Sign Up to like & getrecommendations! Published in 2018 at "Developmental cell"
DOI: 10.1016/j.devcel.2018.02.012
Abstract: Recurrent mutations in chromatin modifiers are specifically prevalent in adolescent or adult patients with Sonic hedgehog-associated medulloblastoma (SHH MB). Here, we report that mutations in the acetyltransferase CREBBP have opposing effects during the development of… read more here.
Keywords: adult; crebbp mutations; opposing effects; rubinstein taybi ... See more keywords
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-020-0679-8
Abstract: Lysine-specific methyltransferase 2A (KMT2A) is responsible for methylation of histone H3 (K4H3me) and contributes to chromatin remodeling, acting as “writer” of the epigenetic machinery. Mutations in KMT2A were first reported in Wiedemann–Steiner syndrome (WDSTS). More… read more here.
Keywords: phenotype; rubinstein taybi; wiedemann steiner; kmt2a variants ... See more keywords
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-95133-0
Abstract: Rubinstein–Taybi syndrome (RSTS) is a human genetic disorder characterized by distinctive craniofacial features, broad thumbs and halluces, and intellectual disability. Mutations in the CREB binding protein (CREBBP) and E1A binding protein p300 (EP300) are the… read more here.
Keywords: ep300; plau; ep300 plau; rubinstein taybi ... See more keywords
Lacrimal drainage anomalies in Rubinstein–Taybi syndrome: case report and review of literature
Sign Up to like & getrecommendations! Published in 2018 at "Orbit"
DOI: 10.1080/01676830.2018.1515961
Abstract: ABSTRACT Rubinstein–Taybi syndrome is a rare multisystem disorder characterized by broad thumbs and first toes, short stature, microcephaly, delayed milestones, beak nose, and hypertelorism. Lacrimal drainage anomalies are not uncommon in this syndrome. We present… read more here.
Keywords: lacrimal drainage; rubinstein taybi; anomalies rubinstein; drainage anomalies ... See more keywords
Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Hematology and Oncology"
DOI: 10.1080/08880018.2022.2049938
Abstract: Abstract Rubinstein-Taybi syndrome (RSTS) is a rare disorder characterized by developmental delay, short stature, dysmorphic facies and skeletal abnormalities. RSTS has been linked to a variety of malignant and benign tumors, but the frequency and… read more here.
Keywords: cell; near haploid; rubinstein taybi; taybi syndrome ... See more keywords
Rubinstein–Taybi because of a novel EP300 mutation with novel clinical findings
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000164
Abstract: Department of Pediatrics, Jagiellonian University Medical College, Kraków, Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland and Jeroen KJ van Houdt, Center for Human Genetics, University Hospital Gasthuisberg, Catholic University Leuven, Leuven,… read more here.
Keywords: taybi novel; novel ep300; ep300 mutation; genetics ... See more keywords
First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene
Sign Up to like & getrecommendations! Published in 2019 at "Clinical and Experimental Dermatology"
DOI: 10.1111/ced.13871
Abstract: Rubinstein–Taybi syndrome (RSTS) is a rare congenital disorder, mainly characterized by postnatal growth retardation, intellectual disability, and facial and limb abnormalities. Although not considered as characteristic manifestations, numerous cutaneous anomalies have also been reported in… read more here.
Keywords: bromodomain crebbp; novel mutation; rubinstein taybi; mutation bromodomain ... See more keywords
The Executive Function Account of Repetitive Behavior: Evidence From Rubinstein-Taybi Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "American journal on intellectual and developmental disabilities"
DOI: 10.1352/1944-7558-128.1.49
Abstract: In this study, we focus on Rubinstein-Taybi syndrome (RTS) to explore the associations between executive function deficits and repetitive behaviors. Thirty individuals with RTS completed direct assessments of inhibition, working memory and set-shifting. Informants completed… read more here.
Keywords: function; rubinstein taybi; executive function; taybi syndrome ... See more keywords