Pathophysiological heterogeneity of the BBSOA neurodevelopmental syndrome
The formation and maturation of the human brain is regulated by highly coordinated
developmental events, such as neural cell proliferation, migration and differentiation. Any …
developmental events, such as neural cell proliferation, migration and differentiation. Any …
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
CA Chen, DGM Bosch, MT Cho, JA Rosenfeld… - Genetics in …, 2016 - nature.com
Purpose: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-
dominant disorder characterized by optic atrophy and intellectual disability caused by loss-of …
dominant disorder characterized by optic atrophy and intellectual disability caused by loss-of …
Phenotypic expansion of Bosch–Boonstra–Schaaf optic atrophy syndrome and further evidence for genotype–phenotype correlations
ME Rech, JM McCarthy, CA Chen… - American Journal of …, 2020 - Wiley Online Library
Abstract Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal
dominant neurodevelopmental disorder caused by loss‐of‐function variants in NR2F1 and …
dominant neurodevelopmental disorder caused by loss‐of‐function variants in NR2F1 and …
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients
M Bertacchi, AL Romano, A Loubat… - The EMBO …, 2020 - embopress.org
The relationships between impaired cortical development and consequent malformations in
neurodevelopmental disorders, as well as the genes implicated in these processes, are not …
neurodevelopmental disorders, as well as the genes implicated in these processes, are not …
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic …
C Kaiwar, MT Zimmermann… - Molecular …, 2017 - molecularcasestudies.cshlp.org
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a recently described
autosomal dominant disorder caused by mutations in the NR2F1 gene. There are presently …
autosomal dominant disorder caused by mutations in the NR2F1 gene. There are presently …
Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal …
CA Chen, W Wang, SE Pedersen… - Human Molecular …, 2020 - academic.oup.com
Abstract Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been identified as
an autosomal-dominant disorder characterized by a complex neurological phenotype, with …
an autosomal-dominant disorder characterized by a complex neurological phenotype, with …
Structural and Functional Aspects of the Neurodevelopmental Gene NR2F1: From Animal Models to Human Pathology
C Tocco, M Bertacchi, M Studer - Frontiers in Molecular Neuroscience, 2021 - frontiersin.org
The assembly and maturation of the mammalian brain result from an intricate cascade of
highly coordinated developmental events, such as cell proliferation, migration, and …
highly coordinated developmental events, such as cell proliferation, migration, and …
NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome
B Billiet, P Amati‐Bonneau… - Human …, 2022 - Wiley Online Library
Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1)
are responsible for Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS), an …
are responsible for Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS), an …
Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome
M Bertacchi, A Gruart, P Kaimakis, C Allet… - EMBO molecular …, 2019 - embopress.org
Optic nerve atrophy represents the most common form of hereditary optic neuropathies
leading to vision impairment. The recently described Bosch‐Boonstra‐Schaaf optic atrophy …
leading to vision impairment. The recently described Bosch‐Boonstra‐Schaaf optic atrophy …
Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome
S Walsh, SS Gösswein, A Rump… - European journal of …, 2020 - Elsevier
Abstract Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been described as
an autosomal-dominant disorder caused by mutations in the NR2F1 gene, whose common …
an autosomal-dominant disorder caused by mutations in the NR2F1 gene, whose common …