These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

244 related articles for article (PubMed ID: 28668999)

  • 1. Heterozygous deletion of the OPA1 gene in patients with dominant optic atrophy.
    Hayashi T; Sasano H; Katagiri S; Tsunoda K; Kameya S; Nakazawa M; Iwata T; Tsuneoka H
    Jpn J Ophthalmol; 2017 Sep; 61(5):395-401. PubMed ID: 28668999
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Dominant optic atrophy caused by a novel OPA1 splice site mutation (IVS20+1G-->A) associated with intron retention.
    Hayashi T; Gekka T; Omoto S; Takeuchi T; Kitahara K
    Ophthalmic Res; 2005; 37(4):214-24. PubMed ID: 16006781
    [TBL] [Abstract][Full Text] [Related]  

  • 3. OPA1 mutations associated with dominant optic atrophy influence optic nerve head size.
    Barboni P; Carbonelli M; Savini G; Foscarini B; Parisi V; Valentino ML; Carta A; De Negri A; Sadun F; Zeviani M; Sadun AA; Schimpf S; Wissinger B; Carelli V
    Ophthalmology; 2010 Aug; 117(8):1547-53. PubMed ID: 20417568
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Dominant optic atrophy: correlation between clinical and molecular genetic studies.
    Puomila A; Huoponen K; Mäntyjärvi M; Hämäläinen P; Paananen R; Sankila EM; Savontaus ML; Somer M; Nikoskelainen E
    Acta Ophthalmol Scand; 2005 Jun; 83(3):337-46. PubMed ID: 15948788
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genomic rearrangements in OPA1 are frequent in patients with autosomal dominant optic atrophy.
    Fuhrmann N; Alavi MV; Bitoun P; Woernle S; Auburger G; Leo-Kottler B; Yu-Wai-Man P; Chinnery P; Wissinger B
    J Med Genet; 2009 Feb; 46(2):136-44. PubMed ID: 19181907
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Correlation between visual acuity and OCT-measured retinal nerve fiber layer thickness in a family with ADOA and an OPA1 mutation.
    Russo A; Delcassi L; Marchina E; Semeraro F
    Ophthalmic Genet; 2013; 34(1-2):69-74. PubMed ID: 22779427
    [TBL] [Abstract][Full Text] [Related]  

  • 7. AFG3L2 and ACO2-Linked Dominant Optic Atrophy: Genotype-Phenotype Characterization Compared to OPA1 Patients.
    Amore G; Romagnoli M; Carbonelli M; Cascavilla ML; De Negri AM; Carta A; Parisi V; Di Renzo A; Schiavi C; Lenzetti C; Zenesini C; Ormanbekova D; Palombo F; Fiorini C; Caporali L; Carelli V; Barboni P; La Morgia C
    Am J Ophthalmol; 2024 Jun; 262():114-124. PubMed ID: 38278202
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Retinal nerve fiber layer thickness in dominant optic atrophy measurements by optical coherence tomography and correlation with age.
    Barboni P; Savini G; Parisi V; Carbonelli M; La Morgia C; Maresca A; Sadun F; De Negri AM; Carta A; Sadun AA; Carelli V
    Ophthalmology; 2011 Oct; 118(10):2076-80. PubMed ID: 21621262
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Pattern of retinal ganglion cell loss in dominant optic atrophy due to OPA1 mutations.
    Yu-Wai-Man P; Bailie M; Atawan A; Chinnery PF; Griffiths PG
    Eye (Lond); 2011 May; 25(5):596-602. PubMed ID: 21378995
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy.
    Votruba M; Thiselton D; Bhattacharya SS
    Br J Ophthalmol; 2003 Jan; 87(1):48-53. PubMed ID: 12488262
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genetic screening for OPA1 and OPA3 mutations in patients with suspected inherited optic neuropathies.
    Yu-Wai-Man P; Shankar SP; Biousse V; Miller NR; Bean LJ; Coffee B; Hegde M; Newman NJ
    Ophthalmology; 2011 Mar; 118(3):558-63. PubMed ID: 21036400
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1.
    Shimizu S; Mori N; Kishi M; Sugata H; Tsuda A; Kubota N
    Jpn J Ophthalmol; 2002; 46(3):336-40. PubMed ID: 12063046
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Dominant optic atrophy in a Japanese family with OPA1 frameshift mutation (V942fsX966).
    Hayashi T; Takeuchi T; Gekka T; Kitahara K
    Eur J Ophthalmol; 2007; 17(2):253-8. PubMed ID: 17415700
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The prevalence and natural history of dominant optic atrophy due to OPA1 mutations.
    Yu-Wai-Man P; Griffiths PG; Burke A; Sellar PW; Clarke MP; Gnanaraj L; Ah-Kine D; Hudson G; Czermin B; Taylor RW; Horvath R; Chinnery PF
    Ophthalmology; 2010 Aug; 117(8):1538-46, 1546.e1. PubMed ID: 20417570
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.
    Chen Y; Jia X; Wang P; Xiao X; Li S; Guo X; Zhang Q
    Mol Vis; 2013; 19():292-302. PubMed ID: 23401657
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.
    Bolognini R; Gerth-Kahlert C; Abegg M; Bartholdi D; Mathis N; Sturm V; Gallati S; Schaller A
    BMC Med Genet; 2017 Feb; 18(1):22. PubMed ID: 28245802
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A frameshift mutation in exon 28 of the OPA1 gene explains the high prevalence of dominant optic atrophy in the Danish population: evidence for a founder effect.
    Thiselton DL; Alexander C; Morris A; Brooks S; Rosenberg T; Eiberg H; Kjer B; Kjer P; Bhattacharya SS; Votruba M
    Hum Genet; 2001 Nov; 109(5):498-502. PubMed ID: 11735024
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Novel mutations of the OPA1 gene in Chinese dominant optic atrophy.
    Yen MY; Wang AG; Lin YC; Fann MJ; Hsiao KJ
    Ophthalmology; 2010 Feb; 117(2):392-6.e1. PubMed ID: 19969356
    [TBL] [Abstract][Full Text] [Related]  

  • 19. First report of OPA1 screening in Greek patients with autosomal dominant optic atrophy and identification of a previously undescribed OPA1 mutation.
    Kamakari S; Koutsodontis G; Tsilimbaris M; Fitsios A; Chrousos G
    Mol Vis; 2014; 20():691-703. PubMed ID: 24883014
    [TBL] [Abstract][Full Text] [Related]  

  • 20. First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy - a case report.
    Weisschuh N; Mazzola P; Heinrich T; Haack T; Wissinger B; Tonagel F; Kelbsch C
    BMC Med Genet; 2020 Nov; 21(1):236. PubMed ID: 33243194
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.