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Journal Abstract Search

178 related items for PubMed ID: 33946315

  • 1. Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
    Kim YJ, Kim YN, Yoon YH, Seo EJ, Seo GH, Keum C, Lee BH, Lee JY.
    Genes (Basel); 2021 Apr 30; 12(5):. PubMed ID: 33946315
    [Abstract] [Full Text] [Related]

  • 2. Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.
    Sun Y, Li W, Li JK, Wang ZS, Bai JY, Xu L, Xing B, Yang W, Wang ZW, Wang LS, He W, Chen F.
    Mol Genet Genomic Med; 2020 Apr 30; 8(4):e1184. PubMed ID: 32100970
    [Abstract] [Full Text] [Related]

  • 3. The manner of decay of genetically defective EYS gene transcripts in photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients depends on the type of mutation.
    Seko Y, Iwanami M, Miyamoto-Matsui K, Takita S, Aoi N, Umezawa A, Kato S.
    Stem Cell Res Ther; 2018 Oct 25; 9(1):279. PubMed ID: 30359287
    [Abstract] [Full Text] [Related]

  • 4. Whole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.
    Shen C, You B, Chen YN, Li Y, Li W, Wei WB.
    Mol Vis; 2022 Oct 25; 28():96-113. PubMed ID: 35814500
    [Abstract] [Full Text] [Related]

  • 5. 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 Oct 25; 23():470-481. PubMed ID: 28761320
    [Abstract] [Full Text] [Related]

  • 6. Whole exome sequencing identified a novel single base pair insertion mutation in the EYS gene in a six generation family with retinitis pigmentosa.
    Hashmi JA, Albarry MA, Almatrafi AM, Albalawi AM, Mahmood A, Basit S.
    Congenit Anom (Kyoto); 2018 Jan 25; 58(1):10-15. PubMed ID: 28419563
    [Abstract] [Full Text] [Related]

  • 7. Clinical characteristics and disease progression of retinitis pigmentosa associated with PDE6B mutations in Korean patients.
    Kim YN, Song JS, Oh SH, Kim YJ, Yoon YH, Seo EJ, Seol CA, Lee SM, Choi JM, Seo GH, Keum C, Lee BH, Lee JY.
    Sci Rep; 2020 Nov 11; 10(1):19540. PubMed ID: 33177553
    [Abstract] [Full Text] [Related]

  • 8. Next-generation sequencing--based genetic testing and phenotype correlation in retinitis pigmentosa patients from India.
    Sen P, Srikrupa N, Maitra P, Srilekha S, Porkodi P, Gnanasekaran H, Bhende M, Khetan V, Mathavan S, Bhende P, Ratra D, Raman R, Rao C, Sripriya S.
    Indian J Ophthalmol; 2023 Jun 11; 71(6):2512-2520. PubMed ID: 37322672
    [Abstract] [Full Text] [Related]

  • 9. Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
    Khan SY, Ali S, Naeem MA, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.
    Mol Vis; 2015 Jun 11; 21():871-82. PubMed ID: 26321862
    [Abstract] [Full Text] [Related]

  • 10. Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
    Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P.
    PLoS One; 2018 Jun 11; 13(12):e0207958. PubMed ID: 30543658
    [Abstract] [Full Text] [Related]

  • 11. Exome sequencing identified five novel USH2A variants in Korean patients with retinitis pigmentosa.
    Jung S, Park YC, Lee D, Kim S, Kim SM, Kim Y, Lee D, Hyun J, Koh I, Lee JY.
    Ophthalmic Genet; 2023 Apr 11; 44(2):163-170. PubMed ID: 36314366
    [Abstract] [Full Text] [Related]

  • 12. Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
    Pierrottet CO, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, Rossetti LM, Cecchin S, Orzalesi N, Bertelli M.
    Genet Mol Res; 2014 Oct 27; 13(4):8815-33. PubMed ID: 25366773
    [Abstract] [Full Text] [Related]

  • 13. Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.
    Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R, Lelieveld SH, Aller E, Lopez-Martinez MA, López-Molina MI, Fernandez-San Jose P, Blanco-Kelly F, Riveiro-Alvarez R, Gilissen C, Millan JM, Avila-Fernandez A, Ayuso C.
    Sci Rep; 2016 Jan 25; 6():19531. PubMed ID: 26806561
    [Abstract] [Full Text] [Related]

  • 14. Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.
    Pozo MG, Bravo-Gil N, Méndez-Vidal C, Montero-de-Espinosa I, Millán JM, Dopazo J, Borrego S, Antiñolo G.
    Am J Med Genet A; 2015 Jul 25; 167(7):1597-600. PubMed ID: 25823529
    [Abstract] [Full Text] [Related]

  • 15. USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa.
    Zhu T, Chen DF, Wang L, Wu S, Wei X, Li H, Jin ZB, Sui R.
    Br J Ophthalmol; 2021 May 25; 105(5):694-703. PubMed ID: 32675063
    [Abstract] [Full Text] [Related]

  • 16. Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
    Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG.
    BMC Med Genomics; 2021 Mar 10; 14(1):74. PubMed ID: 33691693
    [Abstract] [Full Text] [Related]

  • 17. Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.
    Katagiri S, Akahori M, Sergeev Y, Yoshitake K, Ikeo K, Furuno M, Hayashi T, Kondo M, Ueno S, Tsunoda K, Shinoda K, Kuniyoshi K, Tsurusaki Y, Matsumoto N, Tsuneoka H, Iwata T.
    PLoS One; 2014 Mar 10; 9(9):e108721. PubMed ID: 25268133
    [Abstract] [Full Text] [Related]

  • 18. Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
    Dan H, Huang X, Xing Y, Shen Y.
    Mol Genet Genomic Med; 2020 Mar 10; 8(3):e1131. PubMed ID: 31960602
    [Abstract] [Full Text] [Related]

  • 19. Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.
    Kuehlewein L, Zobor D, Stingl K, Kempf M, Nasser F, Bernd A, Biskup S, Cremers FPM, Khan MI, Mazzola P, Schäferhoff K, Heinrich T, Haack TB, Wissinger B, Zrenner E, Weisschuh N, Kohl S.
    Int J Mol Sci; 2021 Feb 27; 22(5):. PubMed ID: 33673512
    [Abstract] [Full Text] [Related]

  • 20. Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa.
    Liu S, Xie L, Yue J, Ma T, Peng C, Qiu B, Yang Z, Yang J.
    Int J Mol Med; 2016 Jun 27; 37(6):1528-34. PubMed ID: 27082927
    [Abstract] [Full Text] [Related]

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