Library of Research Publications on BBSOAS and/or the NR2F1 gene
- NR2F1 mutations cause optic atrophy with intellectual disability
- The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations
- Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations
- Structural and Functional Aspects of the Neurodevelopmental Gene NR2F1: From Animal Models to Human Pathology
- Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study
- Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism
- Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome
- Hyperactive and anxiolytic-like behaviors result from loss of COUP-TFI/Nr2f1 in the mouse cortex
- A fetus with Bosch-Boonstra-Schaaf optic atrophy syndrome characterized by bilateral ventricle widening: A case report and related literature review
- Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome
- Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome
- Endocrine and pubertal disturbances in optic nerve hypoplasia, from infancy to adolescence
- Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model
- Long-term outcome of a 26-year-old woman with West syndrome and an nuclear receptor subfamily 2 group F member 1 gene (NR2F1) mutation
- NR2F1 Deletion in a Patient with a de novo Paracentric Inversion, inv(5)(q15q33.2), and Syndromic Deafness
- COUP-TFI/Nr2f1 Orchestrates Intrinsic Neuronal Activity during Development of the Somatosensory Cortex
- NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients
- The pleiotropic transcriptional regulator COUP-TFI plays multiple roles in neural development and disease
- COUP-TFI regulates the balance of cortical patterning between frontal/motor and sensory areas
- Intrinsic neuronal excitability and spontaneous activity underlie cortical abnormalities upon Nr2f1/COUP-TFI deficiency
- Common Neuroimaging Findings in Bosch-Boonstra-SchaafOptic Atrophy Syndrome