Similar articles for PMID: 36702506

Year	Number of Results
1956	2
1957	1
1991	1
1993	3
1998	1
1999	1
2002	1
2003	2
2006	4
2008	2
2010	3
2011	5
2013	4
2014	2
2015	5
2016	8
2017	9
2018	8
2019	9
2020	22
2021	11
2022	9
2023	3

1

Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.

Desai NK, Kralik SF, Edmond JC, Shah V, Huisman TAGM, Rech M, Schaaf CP. Desai NK, et al. AJNR Am J Neuroradiol. 2023 Feb;44(2):212-217. doi: 10.3174/ajnr.A7758. Epub 2023 Jan 26. AJNR Am J Neuroradiol. 2023. PMID: 36702506

2

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

Kocaaga A, Yimenicioglu S, Gürsoy HH. Kocaaga A, et al. Indian J Ophthalmol. 2022 Jul;70(7):2762-2764. doi: 10.4103/ijo.IJO_1061_22. Indian J Ophthalmol. 2022. PMID: 35791240 Free PMC article.

3

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.

4

NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.

Billiet B, Amati-Bonneau P, Desquiret-Dumas V, Guehlouz K, Milea D, Gohier P, Lenaers G, Mirebeau-Prunier D, den Dunnen JT, Reynier P, Ferré M. Billiet B, et al. Hum Mutat. 2022 Feb;43(2):128-142. doi: 10.1002/humu.24305. Epub 2021 Dec 9. Hum Mutat. 2022. PMID: 34837429

5

Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome.

Park SE, Lee JS, Lee ST, Kim HY, Han SH, Han J. Park SE, et al. Ophthalmic Genet. 2019 Aug;40(4):359-361. doi: 10.1080/13816810.2019.1650074. Epub 2019 Aug 8. Ophthalmic Genet. 2019. PMID: 31393201

6

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 PMC article.

7

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 Review.

8

A severe case of Bosch-Boonstra-Schaaf optic atrophy syndrome with a novel description of coloboma and septo-optic dysplasia, owing to a start codon variant in the NR2F1 gene.

Gazdagh G, Mawby R, Self JE, Baralle D; Deciphering Developmental Disorders Study. Gazdagh G, et al. Am J Med Genet A. 2022 Mar;188(3):900-906. doi: 10.1002/ajmg.a.62569. Epub 2021 Nov 17. Am J Med Genet A. 2022. PMID: 34787370

9

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

10

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

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