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 *

113 related articles for article (PubMed ID: 34127626)

  • 1. NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT.
    Tauscher RG; Rahmani S; Szymaniak BM; Jampol LM; Mirza RG
    Retin Cases Brief Rep; 2023 May; 17(3):261-265. PubMed ID: 34127626
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families.
    Jones KD; Wheaton DK; Bowne SJ; Sullivan LS; Birch DG; Chen R; Daiger SP
    Mol Vis; 2017; 23():470-481. PubMed ID: 28761320
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.
    Conley SM; Stuck MW; Watson JN; Naash MI
    Hum Mol Genet; 2017 Feb; 26(3):509-518. PubMed ID: 28053051
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.
    Renner AB; Fiebig BS; Weber BH; Wissinger B; Andreasson S; Gal A; Cropp E; Kohl S; Kellner U
    Am J Ophthalmol; 2009 Mar; 147(3):518-530.e1. PubMed ID: 19038374
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.
    Shankar SP; Hughbanks-Wheaton DK; Birch DG; Sullivan LS; Conneely KN; Bowne SJ; Stone EM; Daiger SP
    Invest Ophthalmol Vis Sci; 2016 Feb; 57(2):349-59. PubMed ID: 26842753
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic and Phenotypic Landscape of
    Oishi A; Fujinami K; Mawatari G; Naoi N; Ikeda Y; Ueno S; Kuniyoshi K; Hayashi T; Kondo H; Mizota A; Shinoda K; Kusuhara S; Nakamura M; Iwata T; Tsujikawa A; Tsunoda K
    Genes (Basel); 2021 Nov; 12(11):. PubMed ID: 34828423
    [No Abstract]   [Full Text] [Related]  

  • 7. Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.
    Michaelides M; Holder GE; Bradshaw K; Hunt DM; Moore AT
    Ophthalmology; 2005 Sep; 112(9):1592-8. PubMed ID: 16019073
    [TBL] [Abstract][Full Text] [Related]  

  • 8.
    Coco-Martin RM; Sanchez-Tocino HT; Desco C; Usategui-Martín R; Tellería JJ
    Genes (Basel); 2020 Jul; 11(7):. PubMed ID: 32660024
    [TBL] [Abstract][Full Text] [Related]  

  • 9.
    Daftarian N; Mirrahimi M; Sabbaghi H; Moghadasi A; Zal N; Dehghan Banadaki H; Ahmadieh H; Suri F
    Ophthalmic Genet; 2019 Oct; 40(5):436-442. PubMed ID: 31618092
    [No Abstract]   [Full Text] [Related]  

  • 10. PRPH2/RDS and ROM-1: Historical context, current views and future considerations.
    Stuck MW; Conley SM; Naash MI
    Prog Retin Eye Res; 2016 May; 52():47-63. PubMed ID: 26773759
    [TBL] [Abstract][Full Text] [Related]  

  • 11. BULL'S EYE MACULOPATHY WITH MUTATIONS IN RDS/PRPH2 AND ROM-1.
    Essilfie JO; Sanfilippo CJ; Sarraf D
    Retin Cases Brief Rep; 2018 Fall; 12 Suppl 1():S55-S58. PubMed ID: 29155698
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation.
    Khan AO; Al Rashaed S; Neuhaus C; Bergmann C; Bolz HJ
    Br J Ophthalmol; 2016 Feb; 100(2):209-15. PubMed ID: 26061163
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel molecular mechanisms for Prph2-associated pattern dystrophy.
    Chakraborty D; Strayve DG; Makia MS; Conley SM; Kakahel M; Al-Ubaidi MR; Naash MI
    FASEB J; 2020 Jan; 34(1):1211-1230. PubMed ID: 31914632
    [TBL] [Abstract][Full Text] [Related]  

  • 14. PRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation.
    Choi H; Cloutier A; Lally D
    Ophthalmic Genet; 2022 Apr; 43(2):235-239. PubMed ID: 34906036
    [TBL] [Abstract][Full Text] [Related]  

  • 15. ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
    Poloschek CM; Bach M; Lagrèze WA; Glaus E; Lemke JR; Berger W; Neidhardt J
    Invest Ophthalmol Vis Sci; 2010 Aug; 51(8):4253-65. PubMed ID: 20335603
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Quantitative Fundus Autofluorescence and Optical Coherence Tomography in PRPH2/RDS- and ABCA4-Associated Disease Exhibiting Phenotypic Overlap.
    Duncker T; Tsang SH; Woods RL; Lee W; Zernant J; Allikmets R; Delori FC; Sparrow JR
    Invest Ophthalmol Vis Sci; 2015 May; 56(5):3159-70. PubMed ID: 26024099
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Late-onset pattern macular dystrophy mimicking
    Ma CJ; Lee W; Stong N; Zernant J; Chang S; Goldstein D; Nagasaki T; Allikmets R
    Cold Spring Harb Mol Case Stud; 2019 Jun; 5(3):. PubMed ID: 30630813
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Founder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.
    Shankar SP; Birch DG; Ruiz RS; Hughbanks-Wheaton DK; Sullivan LS; Bowne SJ; Stone EM; Daiger SP
    JAMA Ophthalmol; 2015 May; 133(5):511-7. PubMed ID: 25675413
    [TBL] [Abstract][Full Text] [Related]  

  • 19. PRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.
    Bianco L; Arrigo A; Antropoli A; Saladino A; Spiga I; Patricelli MG; Bandello F; Carrera P; Battaglia Parodi M
    Ophthalmol Retina; 2023 May; 7(5):450-461. PubMed ID: 36563963
    [TBL] [Abstract][Full Text] [Related]  

  • 20. PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation.
    Coco RM; Tellería JJ; Sanabria MR; Rodríguez-Rúa E; García MT
    Eur J Ophthalmol; 2010; 20(4):724-32. PubMed ID: 20213611
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.