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3. 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 Eur J Med Genet; 2020 Oct; 63(10):104019. PubMed ID: 32712214 [TBL] [Abstract][Full Text] [Related]
4. Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome. Bertacchi M; Tocco C; Schaaf CP; Studer M Cells; 2022 Apr; 11(8):. PubMed ID: 35455940 [TBL] [Abstract][Full Text] [Related]
5. Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndrome. Mio C; Fogolari F; Pezzoli L; D'Elia AV; Iascone M; Damante G Mol Genet Genomic Med; 2020 Jul; 8(7):e1278. PubMed ID: 32412696 [TBL] [Abstract][Full Text] [Related]
6. 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 Hum Mutat; 2022 Feb; 43(2):128-142. PubMed ID: 34837429 [TBL] [Abstract][Full Text] [Related]
8. 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 J Psychiatr Pract; 2020 Jan; 26(1):58-62. PubMed ID: 31913971 [TBL] [Abstract][Full Text] [Related]
9. 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; Am J Med Genet A; 2022 Mar; 188(3):900-906. PubMed ID: 34787370 [TBL] [Abstract][Full Text] [Related]
10. NR2F1 shapes mitochondria in the mouse brain, providing new insights into Bosch-Boonstra-Schaaf optic atrophy syndrome. Bonzano S; Dallorto E; Molineris I; Michelon F; Crisci I; Gambarotta G; Neri F; Oliviero S; Beckervordersandforth R; Lie DC; Peretto P; Bovetti S; Studer M; De Marchis S Dis Model Mech; 2023 Jun; 16(6):. PubMed ID: 37260288 [TBL] [Abstract][Full Text] [Related]
11. Targeted panel sequencing identifies a novel Park SE; Lee JS; Lee ST; Kim HY; Han SH; Han J Ophthalmic Genet; 2019 Aug; 40(4):359-361. PubMed ID: 31393201 [No Abstract] [Full Text] [Related]
12. 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 Genet Med; 2016 Nov; 18(11):1143-1150. PubMed ID: 26986877 [TBL] [Abstract][Full Text] [Related]
13. 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 Am J Med Genet A; 2020 Jun; 182(6):1426-1437. PubMed ID: 32275123 [TBL] [Abstract][Full Text] [Related]
14. Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism. van Renterghem V; Vilain C; Devriendt K; Casteels I; Smits G; Soblet J; Balikova I Eur J Med Genet; 2023 Apr; 66(4):104729. PubMed ID: 36775012 [TBL] [Abstract][Full Text] [Related]
15. Commentary on "Bosch-Boonstra-Schaaf Optic Atrophy Syndrome Presenting as New-Onset Psychosis in a 32-Year-Old Man: A Case Report and Literature Review". Kahn DA J Psychiatr Pract; 2020 Jan; 26(1):58-62. PubMed ID: 31913972 [TBL] [Abstract][Full Text] [Related]
16. Structural and Functional Aspects of the Neurodevelopmental Gene Tocco C; Bertacchi M; Studer M Front Mol Neurosci; 2021; 14():767965. PubMed ID: 34975398 [TBL] [Abstract][Full Text] [Related]
17. Second Case of Gonadal Mosaicism and a Novel Nonsense NR2F1 Gene Variant as the Cause of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome. Hrvatin N; Pereza N; Čaljkušić-Mance T; Vučerić TM; Ostojić S; Hodžić A; Maver A; Peterlin B Clin Genet; 2024 Dec; 106(6):786-787. PubMed ID: 39350586 [TBL] [Abstract][Full Text] [Related]
18. 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 Am J Med Genet A; 2020 Jan; 182(1):213-218. PubMed ID: 31729143 [TBL] [Abstract][Full Text] [Related]
19. Pathogenic Jurkute N; Bertacchi M; Arno G; Tocco C; Kim US; Kruszewski AM; Avery RA; Bedoukian EC; Han J; Ahn SJ; Pontikos N; Acheson J; Davagnanam I; Bowman R; Kaliakatsos M; Gardham A; Wakeling E; Oluonye N; Reddy MA; Clark E; Rosser E; Amati-Bonneau P; Charif M; Lenaers G; Meunier I; Defoort S; Vincent-Delorme C; Robson AG; Holder GE; Jeanjean L; Martinez-Monseny A; Vidal-Santacana M; Dominici C; Gaggioli C; Giordano N; Caleo M; Liu GT; ; Webster AR; Studer M; Yu-Wai-Man P Brain Commun; 2021; 3(3):fcab162. PubMed ID: 34466801 [TBL] [Abstract][Full Text] [Related]
20. Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation. Martín-Hernández E; Rodríguez-García ME; Chen CA; Cotrina-Vinagre FJ; Carnicero-Rodríguez P; Bellusci M; Schaaf CP; Martínez-Azorín F J Hum Genet; 2018 Apr; 63(4):525-528. PubMed ID: 29410510 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]