BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

218 related articles for article (PubMed ID: 32275123)

  • 1. 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]  

  • 2. Novel
    Kaiwar C; Zimmermann MT; Ferber MJ; Niu Z; Urrutia RA; Klee EW; Babovic-Vuksanovic D
    Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 28963436
    [TBL] [Abstract][Full Text] [Related]  

  • 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. 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]  

  • 5. 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]  

  • 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
    Am J Med Genet A; 2020 Jan; 182(1):213-218. PubMed ID: 31729143
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    J Psychiatr Pract; 2020 Jan; 26(1):58-62. PubMed ID: 31913971
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Novel
    Kocaaga A; Yimenicioglu S; Gürsoy HH
    Indian J Ophthalmol; 2022 Jul; 70(7):2762-2764. PubMed ID: 35791240
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Common Neuroimaging Findings in Bosch-Boonstra-Schaaf Optic Atrophy Syndrome.
    Desai NK; Kralik SF; Edmond JC; Shah V; Huisman TAGM; Rech M; Schaaf CP
    AJNR Am J Neuroradiol; 2023 Feb; 44(2):212-217. PubMed ID: 36702506
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype.
    Starosta RT; Tarnowski J; Vairo FPE; Raymond K; Preston G; Morava E
    Eur J Med Genet; 2020 Jul; 63(7):103941. PubMed ID: 32407885
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.
    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
    Hum Mol Genet; 2020 Mar; 29(5):705-715. PubMed ID: 31600777
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A fetus with Bosch-Boonstra-Schaaf optic atrophy syndrome characterized by bilateral ventricle widening: A case report and related literature review.
    Sun Y; Guo L; Sha J; Tao H; Wang X; Liu Y; Zhai J; Wu J; Zhao Y
    Medicine (Baltimore); 2022 Oct; 101(40):e30558. PubMed ID: 36221391
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.