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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C. Chen CA, et al. Genet Med. 2016 Nov;18(11):1143-1150. doi: 10.1038/gim.2016.18. Epub 2016 Mar 17. Genet Med. 2016. PMID: 26986877
PURPOSE: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant disorder characterized by optic atrophy and intellectual disability caused by loss-of-function mutations in NR2F1. ...In addition to visual and cognitive deficits, individuals wi …
PURPOSE: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal-dominant disorder characterized by optic atrophy and i …
Hyperactive and anxiolytic-like behaviors result from loss of COUP-TFI/Nr2f1 in the mouse cortex.
Contesse T, Ayrault M, Mantegazza M, Studer M, Deschaux O. Contesse T, et al. Genes Brain Behav. 2019 Sep;18(7):e12556. doi: 10.1111/gbb.12556. Epub 2019 Feb 10. Genes Brain Behav. 2019. PMID: 30653836
In humans, mutations in the NR2F1 gene lead to a global developmental delay and intellectual disabilities. While more than 30% of patients show behavioral features of autism spectrum disorder, 16% of haploinsufficient children show signs of hyperactivity and …
In humans, mutations in the NR2F1 gene lead to a global developmental delay and intellectual disabilities. While more than 30% of pat …
Beyond protein-coding genes.
Lozano-Ureña A, Ferrón SR. Lozano-Ureña A, et al. Elife. 2019 Feb 19;8:e45123. doi: 10.7554/eLife.45123. Elife. 2019. PMID: 30777838 Free PMC article.
A long non-coding RNA called lnc-NR2F1 regulates several neuronal genes, including some involved in autism and intellectual disabilities....
A long non-coding RNA called lnc-NR2F1 regulates several neuronal genes, including some involved in autism and intellectual di …
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.
Rech ME, McCarthy JM, Chen CA, Edmond JC, Shah VS, Bosch DGM, Berry GT, Williams L, Madan-Khetarpal S, Niyazov D, Shaw-Smith C, Kovar EM, Lupo PJ, Schaaf CP. Rech ME, et al. Am J Med Genet A. 2020 Jun;182(6):1426-1437. doi: 10.1002/ajmg.a.61580. Epub 2020 Apr 10. Am J Med Genet A. 2020. PMID: 32275123
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability. ...We corroborate previo …
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss-of-function …
The novel lncRNA lnc-NR2F1 is pro-neurogenic and mutated in human neurodevelopmental disorders.
Ang CE, Ma Q, Wapinski OL, Fan S, Flynn RA, Lee QY, Coe B, Onoguchi M, Olmos VH, Do BT, Dukes-Rimsky L, Xu J, Tanabe K, Wang L, Elling U, Penninger JM, Zhao Y, Qu K, Eichler EE, Srivastava A, Wernig M, Chang HY. Ang CE, et al. Elife. 2019 Jan 10;8:e41770. doi: 10.7554/eLife.41770. Elife. 2019. PMID: 30628890 Free PMC article.
Combining differential lncRNA expression during neuronal lineage induction with copy number variation morbidity maps of a cohort of children with autism spectrum disorder/intellectual disability versus healthy controls revealed focal genomic mutations affecting seve …
Combining differential lncRNA expression during neuronal lineage induction with copy number variation morbidity maps of a cohort of children …
Imbalance of Excitatory/Inhibitory Neuron Differentiation in Neurodevelopmental Disorders with an NR2F1 Point Mutation.
Zhang K, Yu F, Zhu J, Han S, Chen J, Wu X, Chen Y, Shen T, Liao J, Guo W, Yang X, Wang R, Qian Y, Yang J, Cheng L, Zhao Y, Hui CC, Li J, Peng G, He S, Jing N, Tang K. Zhang K, et al. Cell Rep. 2020 Apr 21;31(3):107521. doi: 10.1016/j.celrep.2020.03.085. Cell Rep. 2020. PMID: 32320667 Free article.
Recent studies have revealed an essential role for embryonic cortical development in the pathophysiology of neurodevelopmental disorders, including autism spectrum disorder (ASD). However, the genetic basis and underlying mechanisms remain unclear. Here, we g …
Recent studies have revealed an essential role for embryonic cortical development in the pathophysiology of neurodevelopmental disorders, in …
Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.
Walsh S, Gösswein SS, Rump A, von der Hagen M, Hackmann K, Schröck E, Di Donato N, Kahlert AK. Walsh S, et al. Eur J Med Genet. 2020 Oct;63(10):104019. doi: 10.1016/j.ejmg.2020.104019. Epub 2020 Jul 23. Eur J Med Genet. 2020. PMID: 32712214
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been described as an autosomal-dominant disorder caused by mutations in the NR2F1 gene, whose common characteristics include developmental delay, intellectual disability, optic nerve atrophy, hypotonia, atten …
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been described as an autosomal-dominant disorder caused by mutations in the …
Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.
Bojanek EK, Mosconi MW, Guter S, Betancur C, Macmillan C, Cook EH. Bojanek EK, et al. Am J Med Genet A. 2020 Jan;182(1):213-218. doi: 10.1002/ajmg.a.61409. Epub 2019 Nov 15. Am J Med Genet A. 2020. PMID: 31729143 Free article.
Alterations in NR2F1 cause Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), a recently described autosomal dominant disorder characterized by intellectual and developmental disabilities and optic atrophy. ...The patient was diagnosed with autism spectru …
Alterations in NR2F1 cause Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), a recently described autosomal dominant disorder
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.
Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, Klee EW, Babovic-Vuksanovic D. Kaiwar C, et al. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a002162. doi: 10.1101/mcs.a002162. Print 2017 Nov. Cold Spring Harb Mol Case Stud. 2017. PMID: 28963436 Free PMC article. Review.
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the NR2F1 gene. There are presently 28 cases of BBSOAS described in the literature. Its common features include developmental delay, inte …
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the …
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review.
Hobbs MM, Wolters WC, Rayapati AO. Hobbs MM, et al. J Psychiatr Pract. 2020 Jan;26(1):58-62. doi: 10.1097/PRA.0000000000000440. J Psychiatr Pract. 2020. PMID: 31913971
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the nuclear receptor subfamily 2 group F member 1 (NR2F1) gene. Its common features include optic atrophy and/or hypoplasia, developmenta …
Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the …
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