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 *

174 related articles for article (PubMed ID: 32531846)

  • 1. Genotype-phenotype associations in a large PRPH2-related retinopathy cohort.
    Reeves MJ; Goetz KE; Guan B; Ullah E; Blain D; Zein WM; Tumminia SJ; Hufnagel RB
    Hum Mutat; 2020 Sep; 41(9):1528-1539. PubMed ID: 32531846
    [TBL] [Abstract][Full Text] [Related]  

  • 2. PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
    Peeters MHCA; Khan M; Rooijakkers AAMB; Mulders T; Haer-Wigman L; Boon CJF; Klaver CCW; van den Born LI; Hoyng CB; Cremers FPM; den Hollander AI; Dhaenens CM; Collin RWJ
    Hum Mutat; 2021 Dec; 42(12):1521-1547. PubMed ID: 34411390
    [TBL] [Abstract][Full Text] [Related]  

  • 3. New Insight into the Genotype-Phenotype Correlation of
    Wang Y; Wang J; Jiang Y; Zhu D; Ouyang J; Yi Z; Li S; Jia X; Xiao X; Sun W; Wang P; Zhang Q
    Int J Mol Sci; 2023 Apr; 24(7):. PubMed ID: 37047703
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in
    Strafella C; Caputo V; Pagliaroli G; Iozzo N; Campoli G; Carboni S; Peconi C; Galota RM; Zampatti S; Minozzi G; Novelli G; Giardina E; Cascella R
    Genes (Basel); 2019 Oct; 10(10):. PubMed ID: 31614793
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling.
    Donato L; Abdalla EM; Scimone C; Alibrandi S; Rinaldi C; Nabil KM; D'Angelo R; Sidoti A
    Int J Mol Sci; 2021 Mar; 22(7):. PubMed ID: 33801777
    [TBL] [Abstract][Full Text] [Related]  

  • 9.
    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]  

  • 10. Autosomal dominant retinitis pigmentosa with macular involvement associated with a disease haplotype that included a novel PRPH2 variant (p.Cys250Gly).
    Katagiri S; Hayashi T; Mizobuchi K; Yoshitake K; Iwata T; Nakano T
    Ophthalmic Genet; 2018 Jun; 39(3):357-365. PubMed ID: 29630435
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Screening of a large cohort of leber congenital amaurosis and retinitis pigmentosa patients identifies novel LCA5 mutations and new genotype-phenotype correlations.
    Mackay DS; Borman AD; Sui R; van den Born LI; Berson EL; Ocaka LA; Davidson AE; Heckenlively JR; Branham K; Ren H; Lopez I; Maria M; Azam M; Henkes A; Blokland E; Qamar R; Webster AR; Cremers FPM; Moore AT; Koenekoop RK; ; Andreasson S; de Baere E; Bennett J; Chader GJ; Berger W; Golovleva I; Greenberg J; den Hollander AI; Klaver CCW; Klevering BJ; Lorenz B; Preising MN; Ramsear R; Roberts L; Roepman R; Rohrschneider K; Wissinger B
    Hum Mutat; 2013 Nov; 34(11):1537-1546. PubMed ID: 23946133
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Genotype-phenotype correlation in patients with PRPH2-mutations].
    Maertz J; Gloeckle N; Nentwich MM; Rudolph G
    Klin Monbl Augenheilkd; 2015 Mar; 232(3):266-74. PubMed ID: 25803555
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
    Maggi J; Koller S; Bähr L; Feil S; Kivrak Pfiffner F; Hanson JVM; Maspoli A; Gerth-Kahlert C; Berger W
    Int J Mol Sci; 2021 Feb; 22(4):. PubMed ID: 33546218
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies.
    Çavdarli C; Çavdarlı B; Alp MN
    Ophthalmic Genet; 2020 Dec; 41(6):585-590. PubMed ID: 32942919
    [No Abstract]   [Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.
    Goetz KE; Reeves MJ; Gagadam S; Blain D; Bender C; Lwin C; Naik A; Tumminia SJ; Hufnagel RB
    Am J Med Genet C Semin Med Genet; 2020 Sep; 184(3):828-837. PubMed ID: 32893963
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy.
    Grunin M; Tiosano L; Jaouni T; Averbukh E; Sharon D; Chowers I
    Ophthalmic Genet; 2016 Sep; 37(3):285-9. PubMed ID: 26849151
    [TBL] [Abstract][Full Text] [Related]  

  • 20. High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.
    Manes G; Guillaumie T; Vos WL; Devos A; Audo I; Zeitz C; Marquette V; Zanlonghi X; Defoort-Dhellemmes S; Puech B; Said SM; Sahel JA; Odent S; Dollfus H; Kaplan J; Dufier JL; Le Meur G; Weber M; Faivre L; Cohen FB; Béroud C; Picot MC; Verdier C; Sénéchal A; Baudoin C; Bocquet B; Findlay JB; Meunier I; Dhaenens CM; Hamel CP
    Am J Ophthalmol; 2015 Feb; 159(2):302-14. PubMed ID: 25447119
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.