Results 61 to 70 of about 151 (72)

A de novo nonsense mutation in the N-terminal of ligand-binding domain of NR2F1 gene provoked a milder phenotype of BBSOAS

Ophthalmic Genetics, 2020
Wenjun Zou, Libo Cheng, Shui Lu, Zhifeng Wu   +3 more
openaire   +1 more source

ULTRASTRUCTURAL INVESTIGATIONS OF THE CEREBRAL CORTEX IN MOUSE MODELS OF BBSOAS

The Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS; OMIM 615722; ORPHA 401777) is a neurodevelopmental disease caused by mutations in the NR2F1 gene, a transcriptional regulator known for its multiple key roles in brain development and postnatal brain plasticity1.
I. Esposito, C. Fogliano, M. Gammella, M. Bertacchi, M. Studer, B. Avallone   +5 more
openaire   +1 more source

NR2F1database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome

Human Mutation, 2022
Patrizia Amati-Bonneau, Valerie Desquiret-Dumas, Dan Milea   +2 more
exaly  

The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations

Genetics in Medicine, 2016
Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis   +2 more
exaly  

Commentary on “Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review”

Journal of Psychiatric Practice, 2020
David A Kahn
exaly  

Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation

Journal of Human Genetics, 2018
Elena Martín-Hernández, Maria Elena Rodríguez-García, FRANCISCO Javier Cotrina-Vinagre   +2 more
exaly  

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review

Journal of Psychiatric Practice, 2020
exaly  

Infantile epileptic spasm syndrome as a new NR2F1 gene phenotype

International Journal of Developmental Neuroscience
Lin Wan, Xinting Liu, Gang Zhu
exaly