NR2F1 mutations cause optic atrophy with intellectual disability.
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Role of Nuclear Receptors in Central Nervous System Development and Associated DiseasesLow vision due to cerebral visual impairment: differentiating between acquired and genetic causes.The association between nuclear receptors and ocular diseasesNovel genetic causes for cerebral visual impairmentCOUP-TFs and eye developmentCerebral visual impairment and intellectual disability caused by PGAP1 variantsLessons learned from additional research analyses of unsolved clinical exome cases.The role of the orphan nuclear receptor COUP-TFII in tumorigenesis.The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.Genetic disorders of nuclear receptors.Genome-Wide Chromatin Immunoprecipitation Sequencing Analysis of the Penicillium chrysogenum Velvet Protein PcVelA Identifies Methyltransferase PcLlmA as a Novel Downstream Regulator of Fungal Development.Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing.Modeling Glaucoma: Retinal Ganglion Cells Generated from Induced Pluripotent Stem Cells of Patients with SIX6 Risk Allele Show Developmental Abnormalities.Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.The Transcription Factors COUP-TFI and COUP-TFII have Distinct Roles in Arealisation and GABAergic Interneuron Specification in the Early Human Fetal Telencephalon.Gradient COUP-TFI Expression Is Required for Functional Organization of the Hippocampal Septo-Temporal Longitudinal Axis.Expression of developmental genes in brown fat cells grown in vitro is linked with lipid accumulation.
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NR2F1 mutations cause optic atrophy with intellectual disability.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 23 January 2014
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
NR2F1 mutations cause optic atrophy with intellectual disability.
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NR2F1 mutations cause optic atrophy with intellectual disability.
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NR2F1 mutations cause optic atrophy with intellectual disability.
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NR2F1 mutations cause optic atrophy with intellectual disability.
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NR2F1 mutations cause optic atrophy with intellectual disability.
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NR2F1 mutations cause optic atrophy with intellectual disability.
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NR2F1 mutations cause optic atrophy with intellectual disability
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Baylor-Hopkins Center for Mendelian Genomics
Bert B A de Vries
Christian P Schaaf
Chun-An Chen
Daniëlle G M Bosch
Donna M Muzny
Ellen A W Blokland
F Nienke Boonstra
Frans P M Cremers
Helger G Yntema
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10.1016/J.AJHG.2014.01.002
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2014-01-23T00:00:00Z