Disease: Rubinstein-Taybi syndrome
- <em>KMT2A</em>: Umbrella Gene for Multiple Diseases
- 7q35q36.3 deletion and concomitant 20q13.2q13.33 duplication in a newborn: familiar case
- A case of bilateral elbow dislocation in a patient with Rubinstein-Taybi syndrome
- A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features
- A case of Menke-Hennekam syndrome-1 caused by CREBBP gene variation
- A case of Rubinstein-Taybi syndrome caused by a variant of EP300 gene
- A Case Report of Rubinstein-Taybi Syndrome Presenting with Extensive Keloid Formation and Review of Literature
- A clinical characteristics and genetic analysis of a case of Rubinstein-Taybi syndrome with glaucoma
- A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matche
- A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome
- Age-related hallmarks of psychopathology in Cornelia de Lange and Rubinstein-Taybi syndromes
- Anesthetic Management of an Asian Pediatric Patient With Rubinstein-Taybi Syndrome for Dental Surgery
- Barrett's Esophagus in Rubinstein-Taybi Syndrome
- Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
- Caregivers of individuals with Rubinstein-Taybi syndrome: Perspectives, experiences, and relationships with medical professionals
- Case report: a Chinese girl like atypical Rubinstein-Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene
- Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
- Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
- CBP and p300 Jointly Maintain Neural Progenitor Viability but Play Unique Roles in the Differentiation of Neural Lineages
- CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
- CHARGE syndrome and related disorders: a mechanistic link
- Clinical and genetic characteristics of 21 children with Rubinstein-Taybi syndrome
- Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
- Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH
- Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the <em>CREBBP</em> gene
- Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
- Congenital pterygium with anterior segment dysgenesis: rare ocular manifestation in Rubinstein-Taybi syndrome
- CREB-binding protein (CREBBP) and preeclampsia: a new promising target gene
- De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
- Dermatological findings in Rubinstein-Taybi Syndrome
- Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
- Diagnosis of Menke-Hennekam syndrome by prenatal whole exome sequencing and review of prenatal signs
- Disease-associated c-MYC downregulation in human disorders of transcriptional regulation
- Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing
- DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies
- Double Mesiodens in the Mixed Dentition of Non-syndromic North-Indian Patients: A Case Series
- Early Fetal Corpus Callosum: Demonstrating Normal Growth and Detecting Pathologies in Early Pregnancy
- EP300 facilitates human trophoblast stem cell differentiation
- EP300-related Rubinstein-Taybi syndrome: Highlighted rare phenotypic findings and a genotype-phenotype meta-analysis of 74 patients
- Evaluation of Ayres Sensory Integration() Intervention on Sensory Processing and Motor Function in a Child with Rubinstein-Taybi Syndrome: A Case Report
- Evaluation of Ayres Sensory Integration<sup>®</sup> Intervention on Sensory Processing and Motor Function in a Child with Rubinstein-Taybi Syndrome: A Case Report
- Executive function, repetitive behaviour and restricted interests in neurodevelopmental disorders
- Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes
- Floating-Harbor syndrome with chorioretinal colobomas
- General anesthetic management for dental surgery in an adult patient with Rubinstein-Taybi syndrome
- Genes for RNA-binding proteins involved in neural-specific functions and diseases are downregulated in Rubinstein-Taybi iNeurons
- Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome
- Genetic Diagnosis of Rubinstein-Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel <em>CREBBP</em> Variant
- 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
- Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature
- High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
- Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients
- Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome
- Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype
- Identification of de novo EP300 and PLAU variants in a patient with Rubinstein-Taybi syndrome-related arterial vasculopathy and skeletal anomaly
- Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome
- Interconnected Gene Networks Underpin the Clinical Overlap of <em>HNRNPH1</em>-Related and Rubinstein-Taybi Intellectual Disability Syndromes
- Interconnected Gene Networks Underpin the Clinical Overlap of HNRNPH1-Related and Rubinstein-Taybi Intellectual Disability Syndromes
- Interstitial lung disease in children with Rubinstein-Taybi syndrome
- Introduction of a de novo Creb-binding protein gene mutation in sperm to produce a Rubinstein-Taybi syndrome model using inbred C57BL/6 mice
- Leveraging the Mendelian disorders of the epigenetic machinery to systematically map functional epigenetic variation
- Low bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome
- Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
- Menke-Hennekam Syndrome: A Literature Review and a New Case Report
- Modeling suggests combined-drug treatments for disorders impairing synaptic plasticity via shared signaling pathways
- Molecular insight into CREBBP and TANGO2 variants causing intellectual disability
- Müllerian Agenesis in a patient with Rubinstein Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways
- Mullerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways
- Multimodal Imaging of Cone Dysfunction in Rubinstein-Taybi Syndrome
- Multiple bullous pilomatricomas in a patient with Rubinstein-Taybi syndrome
- Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome
- Novel Findings in Floating-Harbor Syndrome and a Mini-Review of the Literature
- Novel heterozygous variants in the EP300 gene cause Rubinstein-Taybi syndrome 2: Reports from two Chinese children
- NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain
- Oral and cephalometric study in Brazilian Rubinstein-Taybi syndrome patients
- Paraovarian Cyst Torsion in a Patient with Rubinstein-Taybi Syndrome: A Case Report
- Profiles of autism characteristics in thirteen genetic syndromes: a machine learning approach
- Quality of life of Brazilian families who have children with Rubinstein-Taybi syndrome: An exploratory cross-sectional study
- Rubinstein-Taybi syndrome
- Rubinstein-Taybi Syndrome in a Filipino Infant with a Novel <em>CREBBP</em> Gene Pathogenic Variant
- Rubinstein-Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
- Rubinstein-Taybi syndrome in Chinese population with four novel mutations
- Rubinstein-Taybi syndrome in diverse populations
- Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case
- Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
- Rubinstein-Taybi syndrome: a rare case report of a female child emphasizing physiotherapy on gross motor function
- Rubinstein-Taybi Syndrome: Presentation in the First Month of Life
- Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient
- Severe persistent pulmonary hypertension in a neonate with Rubinstein-Taybi syndrome accompanied by triple X syndrome
- Small-molecule CBP/p300 histone acetyltransferase inhibition mobilizes leukocytes from the bone marrow via the endocrine stress response
- The behavioral phenotype of Rubinstein-Taybi syndrome: A scoping review of the literature
- The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein-Taybi syndromes
- The developmental trajectories of the behavioral phenotype and neuropsychiatric functioning in Cornelia de Lange and Rubinstein Taybi syndromes: A longitudinal study
- The Executive Function Account of Repetitive Behavior: Evidence From Rubinstein-Taybi Syndrome
- The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
- The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome
- The relationship between neurodevelopmental transcriptional programs and insomnia: From Rubinstein-Taybi syndrome into energy metabolism
- Ulerythema ophryogenes as an entity associated with 18p- syndrome in a pediatric patient
- Update and Potential Opportunities in CBP [Cyclic Adenosine Monophosphate (cAMP) Response Element-Binding Protein (CREB)-Binding Protein] Research Using Computational Techniques
- Waiting for a diagnosis in Rubinstein-Taybi: The journey from "ignorance is bliss" to the value of "a label"