Results 31 to 40 of about 151 (72)

Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome. [PDF]

Indian J Ophthalmol, 2022
Kocaaga A, Yimenicioglu S, Gürsoy HH.
europepmc   +1 more source

Pathophysiological Mechanism of Neurodevelopmental Disorders-Overview. [PDF]

Cells, 2022
Nagata KI.
europepmc   +1 more source

Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy. [PDF]

Front Neurol, 2022
Seo Y, Kim TY, Won D, Shin S, Choi JR, Lee ST, Lee BJ, Lim HT, Han SH, Han J.   +9 more
europepmc   +1 more source

EXPLORING PATHOGENIC MECHANISMS OF BBSOAS NEURODEVELOPMENTAL DISORDER: INSIGHTS FROM THE ADULT MOUSE DENTATE GYRUS NEURO- GENIC NICHE

OMIN#615722) is a rare neurodevelopmental disorder caused by mutations in the NR2F1 gene, a transcriptional regulator with pleiotropic functions in brain development1. NR2F1 mutations often result in haploinsufficiency or dominant negative effects, but their biological consequences remain poorly understood.
S. Bonzano, E. Dallorto, E. Hidisoglu, A. Marcantoni, M. Sassoe’-Pognetto, P. Peretto, M. Studer, S. De Marchis   +7 more
openaire   +1 more source

Design and Outcomes of a Novel Multidisciplinary Ophthalmic Genetics Clinic. [PDF]

Genes (Basel), 2023
Parekh B, Beil A, Blevins B, Jacobson A, Williams P, Innis JW, Barone Pritchard A, Prasov L.   +7 more
europepmc   +1 more source

Editorial: Molecular and Cellular Crosstalk on Neuronal Functionality and Regulation, From Development to Pathology. [PDF]

Front Mol Neurosci, 2022
Segura I, Egea J.
europepmc   +1 more source

Pregnancy outcomes and genetic analysis for fetal ventriculomegaly. [PDF]

Front Genet, 2023
Tao H, Zhang L, Tan F, Han Y, Wang X, Wu J, Zhai J.   +6 more
europepmc   +1 more source

Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study. [PDF]

Front Genet, 2023
Huang Y, Liu C, Ding H, Wang Y, Yu L, Guo F, Li F, Shi X, Zhang Y, Yin A.   +9 more
europepmc   +1 more source

Morphological characterization of adult-born hippocampal neurons in a mouse model of the neurodevelopmental disorder BBSOAS

, 2022
Dallorto E, Bonzano S, Pattaro A, Studer M, De Marchis S   +4 more
openaire   +1 more source

Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity. [PDF]

Hum Mol Genet, 2020
Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP.   +18 more
europepmc   +1 more source