Results 1 to 10 of about 151 (72)

Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome [PDF]

Cells, 2022
The formation and maturation of the human brain is regulated by highly coordinated developmental events, such as neural cell proliferation, migration and differentiation.
Michele Bertacchi, Chiara Tocco, Christian P Schaaf   +2 more
exaly   +6 more sources

Missense NR2F1 variant in monozygotic twins affected with the Bosch–Boonstra–Schaaf optic atrophy syndrome [PDF]

Molecular Genetics & Genomic Medicine, 2020
Background The Bosch‐Boonstra‐Schaaf optic atrophy syndrome (BBSOAS) is an autosomal‐dominant disorder (OMIM615722) mostly characterized by optic atrophy and/or hypoplasia, mild intellectual disability, hypotonia, seizures/infantile epilepsy.
Catia Mio, Federico Fogolari, Laura Pezzoli   +2 more
exaly   +4 more sources

Structural and Functional Aspects of the Neurodevelopmental Gene NR2F1: From Animal Models to Human Pathology [PDF]

Frontiers in Molecular Neuroscience, 2021
The assembly and maturation of the mammalian brain result from an intricate cascade of highly coordinated developmental events, such as cell proliferation, migration, and differentiation.
Chiara Tocco, Michele Bertacchi, Michele Studer   +2 more
exaly   +4 more sources

Second Prenatal Diagnosis of Bosch–Boonstra–Schaaf Optic Atrophy Syndrome in a Fetus With a 5q14.3q15 Deletion: A Case Report and Review of the Literature [PDF]

Clinical Case Reports
This case demonstrates the value of cell‐free DNA (cfDNA) screening for detecting subchromosomal microdeletions in fetuses with non‐specific prenatal screening abnormalities and no overt structural malformations on ultrasound; CMA and karyotyping ...
Ying Hao, Qingfa Huang, Yong Xu, Xingping Li, Peining Li, Weiqing Wu, Bo Wu, Wenlan Liu   +7 more
doaj   +3 more sources

NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients [PDF]

EMBO Journal, 2020
The relationships between impaired cortical development and consequent malformations in neurodevelopmental disorders, as well as the genes implicated in these processes, are not fully elucidated to date. In this study, we report six novel cases of patients affected by BBSOAS (Boonstra-Bosch-Schaff optic atrophy syndrome), a newly emerging rare ...
Michele Bertacchi, Laurence Perrin, Arthur Sorlin   +2 more
exaly   +7 more sources

Generation of BBSOAS patient-specific induced pluripotent stem cell lines harboring six NR2F1 pathogenic variants

Stem Cell Research
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder caused by mutations or deletions in NR2F1, leading to intellectual disability, developmental delay, visual impairments, epilepsy, hypotonia ...
Michele Bertacchi, Marjolaine Willems, Laurence Faivre   +2 more
exaly   +4 more sources

The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome [PDF]

Clinical Genetics
Here, we present data on genetic variants and phenotype development of 47 individuals with Bosch‐Boonstra‐Schaaf optic atrophy syndrome, a rare neurodevelopmental disorder, highlighting the fact that the disease does not appear to be fundamentally progressive.
Pilar Caro, Christine Fischer, Heiko Brennenstuhl   +2 more
exaly   +3 more sources

Structural interhemispheric connectivity defects in mouse models of BBSOAS: Insights from high spatial resolution 3D white matter tractography

Neurobiology of Disease
White matter (WM) tract formation and axonal pathfinding are major processes in brain development allowing to establish precise connections between targeted structures.
Jean Christophe Deloulme, Olivier Deschaux, Chiara Tocco   +2 more
exaly   +6 more sources

Language and Cognitive Features in a Girl with Bosch–Boonstra–Schaaf Optic Atrophy Syndrome [PDF]

Pediatric Reports
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare neurological condition caused by a disruption in the NR2F-1 gene. The most common clinical features are optic atrophy and intellectual and developmental delay.
Ivana Bogavac, Ljiljana Jeličić, Maša Marisavljević, Milica Ćirović, Jelena Ðorđević, Ivan Krgović, Miško Subotić   +6 more
doaj   +2 more sources

The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers. [PDF]

J Child Psychol Psychiatry
Background Our aim was to update an existing model of communication ability for children with rare neurodevelopmental disorders (NDDs) by centring caregiver and family perspectives. This project is part of a larger initiative to improve the measurement of communication ability for these children in the context of clinical trials.
Zigler CK, McFatrich M, Lucas N, Plyler K, Zapata-Leiva L, Gordon K, Jones HN, Lin L, Kern J, Radar A, Chen D, Bergelson E, Still K, Hinger B, Delagrammatikas CG, Poliquin S, Short BP, Marfia-Ash L, Stephens K, Oyler HO, Graglia JM, Worth K, Son Rigby C, Goss JR, Bigelow B, Bliss G, Beatty K, Schust Myers L, Thelen M, Summerfield N, Bichell TJ, Reeve BB.   +31 more
europepmc   +2 more sources