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 *

183 related articles for article (PubMed ID: 31152339)

  • 1. Autosomal dominant optic atrophy plus due to the novel OPA1 variant c.1463G>C.
    Finsterer J; Laccone F
    Metab Brain Dis; 2019 Aug; 34(4):1023-1027. PubMed ID: 31152339
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Meta-analysis of genotype-phenotype analysis of OPA1 mutations in autosomal dominant optic atrophy.
    Ham M; Han J; Osann K; Smith M; Kimonis V
    Mitochondrion; 2019 May; 46():262-269. PubMed ID: 30165240
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Genomics combined with a protein informatics platform to assess a novel pathogenic variant c.1024 A>G (p.K342E) in OPA1 in a patient with autosomal dominant optic atrophy.
    Ahuja AS; Selvam P; Vadlamudi C; Chopra H; Richter JE; Macklin SK; Samreen A; Helmi H; Mohammaad AN; Hines S; Davila MC; Atwal PS; Caulfield TR
    Ophthalmic Genet; 2020 Dec; 41(6):563-569. PubMed ID: 32940104
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel OPA1 mutation causing variable age of onset autosomal dominant optic atrophy plus in an Australian family.
    Ahmad KE; Davis RL; Sue CM
    J Neurol; 2015 Oct; 262(10):2323-8. PubMed ID: 26194196
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Analysis of opa1 isoforms expression and apoptosis regulation in autosomal dominant optic atrophy (ADOA) patients with mutations in the opa1 gene.
    Formichi P; Radi E; Giorgi E; Gallus GN; Brunetti J; Battisti C; Rufa A; Dotti MT; Franceschini R; Bracci L; Federico A
    J Neurol Sci; 2015 Apr; 351(1-2):99-108. PubMed ID: 25796301
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
    Thiselton DL; Alexander C; Taanman JW; Brooks S; Rosenberg T; Eiberg H; Andreasson S; Van Regemorter N; Munier FL; Moore AT; Bhattacharya SS; Votruba M
    Invest Ophthalmol Vis Sci; 2002 Jun; 43(6):1715-24. PubMed ID: 12036970
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy.
    Rönnbäck C; Nissen C; Almind GJ; Grønskov K; Milea D; Larsen M
    Acta Ophthalmol; 2015 Dec; 93(8):762-6. PubMed ID: 26385429
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotype-phenotype and OCT correlations in Autosomal Dominant Optic Atrophy related to OPA1 gene mutations: Report of 13 Italian families.
    Pretegiani E; Rosini F; Rufa A; Gallus GN; Cardaioli E; Da Pozzo P; Bianchi S; Serchi V; Collura M; Franceschini R; Bianchi Marzoli S; Dotti MT; Federico A
    J Neurol Sci; 2017 Nov; 382():29-35. PubMed ID: 29111013
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Clinical and genetic features of eight Chinese autosomal-dominant optic atrophy pedigrees with six novel OPA1 pathogenic variants.
    Li H; Jones EM; Li H; Yang L; Sun Z; Yuan Z; Chen R; Dong F; Sui R
    Ophthalmic Genet; 2018 Oct; 39(5):569-576. PubMed ID: 29952689
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. Identification of copy number variation in the gene for autosomal dominant optic atrophy, OPA1, in a Chinese pedigree.
    Jin X; Chen YH; Liu Z; Deng Y; Li NN; Huang H; Qi M; Yi X; Zhu J
    Genet Mol Res; 2015 Sep; 14(3):10961-72. PubMed ID: 26400325
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations.
    Cohn AC; Toomes C; Potter C; Towns KV; Hewitt AW; Inglehearn CF; Craig JE; Mackey DA
    Am J Ophthalmol; 2007 Apr; 143(4):656-62. PubMed ID: 17306754
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
    Baris O; Delettre C; Amati-Bonneau P; Surget MO; Charlin JF; Catier A; Derieux L; Guyomard JL; Dollfus H; Jonveaux P; Ayuso C; Maumenee I; Lorenz B; Mohammed S; Tourmen Y; Bonneau D; Malthièry Y; Hamel C; Reynier P
    Hum Mutat; 2003 Jun; 21(6):656. PubMed ID: 14961560
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
    Bonifert T; Karle KN; Tonagel F; Batra M; Wilhelm C; Theurer Y; Schoenfeld C; Kluba T; Kamenisch Y; Carelli V; Wolf J; Gonzalez MA; Speziani F; Schüle R; Züchner S; Schöls L; Wissinger B; Synofzik M
    Brain; 2014 Aug; 137(Pt 8):2164-77. PubMed ID: 24970096
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The natural history of OPA1-related autosomal dominant optic atrophy.
    Cohn AC; Toomes C; Hewitt AW; Kearns LS; Inglehearn CF; Craig JE; Mackey DA
    Br J Ophthalmol; 2008 Oct; 92(10):1333-6. PubMed ID: 18653586
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy.
    Alavi MV; Bette S; Schimpf S; Schuettauf F; Schraermeyer U; Wehrl HF; Ruttiger L; Beck SC; Tonagel F; Pichler BJ; Knipper M; Peters T; Laufs J; Wissinger B
    Brain; 2007 Apr; 130(Pt 4):1029-42. PubMed ID: 17314202
    [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. A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family.
    Zhang L; Shi W; Song L; Zhang X; Cheng L; Wang Y; Ge X; Li W; Zhang W; Min Q; Jin ZB; Qu J; Gu F
    Sci Rep; 2014 Nov; 4():6936. PubMed ID: 25374051
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.