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   Articles with "taybi syndrome" as a keyword



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Caregivers of Individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals.

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recommendations! 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
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Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.

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recommendations! 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
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Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

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recommendations! 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
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Lacrimal drainage anomalies in Rubinstein–Taybi syndrome: case report and review of literature

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recommendations! 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
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Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome

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recommendations! 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
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First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene

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recommendations! 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
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The Executive Function Account of Repetitive Behavior: Evidence From Rubinstein-Taybi Syndrome.

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recommendations! 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
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Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

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recommendations! Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2022.848879

Abstract: Rubinstein–Taybi Syndrome (RSTS) is a rare congenital disease with distinctive facial features, broadening of the thumbs and halluces, and developmental delay. RSTS is caused by de novo genetic alterations in CREBBP and the homologous EP300… read more here.

Keywords: crebbp; ligation dependent; rubinstein taybi; multiplex ligation ... See more keywords