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524 related items for PubMed ID: 25999675

  • 1. Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.
    Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yang J, Guo X, Yin Y, Wang J, Zhang Q.
    Mol Vis; 2015; 21():477-86. PubMed ID: 25999675
    [Abstract] [Full Text] [Related]

  • 2. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
    Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC.
    Gene; 2013 Oct 10; 528(2):178-82. PubMed ID: 23900199
    [Abstract] [Full Text] [Related]

  • 3. Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing.
    Xu Y, Guan L, Shen T, Zhang J, Xiao X, Jiang H, Li S, Yang J, Jia X, Yin Y, Guo X, Wang J, Zhang Q.
    Hum Genet; 2014 Oct 10; 133(10):1255-71. PubMed ID: 24938718
    [Abstract] [Full Text] [Related]

  • 4. Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
    Huang L, Zhang Q, Li S, Guan L, Xiao X, Zhang J, Jia X, Sun W, Zhu Z, Gao Y, Yin Y, Wang P, Guo X, Wang J, Zhang Q.
    PLoS One; 2013 Oct 10; 8(6):e65546. PubMed ID: 23776498
    [Abstract] [Full Text] [Related]

  • 5. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.
    Méndez-Vidal C, Bravo-Gil N, González-Del Pozo M, Vela-Boza A, Dopazo J, Borrego S, Antiñolo G.
    BMC Genet; 2014 Dec 14; 15():143. PubMed ID: 25494902
    [Abstract] [Full Text] [Related]

  • 6. Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
    Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Guo Y, Tian L, Liu X, Guan L, Zhang J, Keating B, Xu X, Hakonarson H, Ayuso C.
    PLoS One; 2015 Dec 14; 10(7):e0133624. PubMed ID: 26197217
    [Abstract] [Full Text] [Related]

  • 7. Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
    Xu Y, Xiao X, Li S, Jia X, Xin W, Wang P, Sun W, Huang L, Guo X, Zhang Q.
    Exp Eye Res; 2016 Aug 14; 149():93-99. PubMed ID: 27375279
    [Abstract] [Full Text] [Related]

  • 8. Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes.
    Jinda W, Taylor TD, Suzuki Y, Thongnoppakhun W, Limwongse C, Lertrit P, Suriyaphol P, Trinavarat A, Atchaneeyasakul LO.
    Invest Ophthalmol Vis Sci; 2014 Apr 07; 55(4):2259-68. PubMed ID: 24618324
    [Abstract] [Full Text] [Related]

  • 9. Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.
    Katagiri S, Hayashi T, Yoshitake K, Akahori M, Ikeo K, Gekka T, Tsuneoka H, Iwata T.
    Ophthalmic Genet; 2016 Apr 07; 37(1):68-75. PubMed ID: 25113443
    [Abstract] [Full Text] [Related]

  • 10. Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
    Corton M, Nishiguchi KM, Avila-Fernández A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, Ayuso C, Rivolta C.
    PLoS One; 2013 Apr 07; 8(6):e65574. PubMed ID: 23940504
    [Abstract] [Full Text] [Related]

  • 11. Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.
    Li S, Shen T, Xiao X, Guo X, Zhang Q.
    Int J Mol Med; 2014 Apr 07; 33(4):913-8. PubMed ID: 24535598
    [Abstract] [Full Text] [Related]

  • 12. 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 07; 37(6):1528-34. PubMed ID: 27082927
    [Abstract] [Full Text] [Related]

  • 13. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa.
    Méndez-Vidal C, González-Del Pozo M, Vela-Boza A, Santoyo-López J, López-Domingo FJ, Vázquez-Marouschek C, Dopazo J, Borrego S, Antiñolo G.
    Mol Vis; 2013 Jun 07; 19():2187-95. PubMed ID: 24227914
    [Abstract] [Full Text] [Related]

  • 14. Exome sequencing reveals CHM mutations in six families with atypical choroideremia initially diagnosed as retinitis pigmentosa.
    Li S, Guan L, Fang S, Jiang H, Xiao X, Yang J, Wang P, Yin Y, Guo X, Wang J, Zhang J, Zhang Q.
    Int J Mol Med; 2014 Aug 07; 34(2):573-7. PubMed ID: 24913019
    [Abstract] [Full Text] [Related]

  • 15. Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosa.
    Xiao X, Cao Y, Chen S, Chen M, Mai X, Zheng Y, Zhuang X, Ng TK, Chen H.
    Mol Vis; 2019 Aug 07; 25():35-46. PubMed ID: 30804660
    [Abstract] [Full Text] [Related]

  • 16. RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.
    Davidson AE, Sergouniotis PI, Mackay DS, Wright GA, Waseem NH, Michaelides M, Holder GE, Robson AG, Moore AT, Plagnol V, Webster AR.
    Hum Mutat; 2013 Mar 07; 34(3):506-14. PubMed ID: 23281133
    [Abstract] [Full Text] [Related]

  • 17. Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.
    González-del Pozo M, Méndez-Vidal C, Bravo-Gil N, Vela-Boza A, Dopazo J, Borrego S, Antiñolo G.
    PLoS One; 2014 Mar 07; 9(12):e116176. PubMed ID: 25544989
    [Abstract] [Full Text] [Related]

  • 18. 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 Mar 07; 21():871-82. PubMed ID: 26321862
    [Abstract] [Full Text] [Related]

  • 19. 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 Mar 07; 23():470-481. PubMed ID: 28761320
    [Abstract] [Full Text] [Related]

  • 20. Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.
    Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D.
    JAMA Ophthalmol; 2015 Mar 07; 133(3):312-8. PubMed ID: 25541840
    [Abstract] [Full Text] [Related]

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