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Journal Abstract Search

527 related items for PubMed ID: 25366773

  • 1. 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]

  • 2. Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing.
    Oishi M, Oishi A, Gotoh N, Ogino K, Higasa K, Iida K, Makiyama Y, Morooka S, Matsuda F, Yoshimura N.
    Invest Ophthalmol Vis Sci; 2014 Oct 16; 55(11):7369-75. PubMed ID: 25324289
    [Abstract] [Full Text] [Related]

  • 3. Three novel mutations of the RPGR gene exon ORF15 in three Japanese families with X-linked retinitis pigmentosa.
    Yokoyama A, Maruiwa F, Hayakawa M, Kanai A, Vervoort R, Wright AF, Yamada K, Niikawa N, Naōi N.
    Am J Med Genet; 2001 Dec 01; 104(3):232-8. PubMed ID: 11754050
    [Abstract] [Full Text] [Related]

  • 4. Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.
    Parmeggiani F, Barbaro V, De Nadai K, Lavezzo E, Toppo S, Chizzolini M, Palù G, Parolin C, Di Iorio E.
    Sci Rep; 2016 Dec 20; 6():39179. PubMed ID: 27995965
    [Abstract] [Full Text] [Related]

  • 5. Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa.
    Haddad MF, Khabour OF, Abuzaideh KA, Shihadeh W.
    Genet Mol Res; 2016 Jun 03; 15(2):. PubMed ID: 27323122
    [Abstract] [Full Text] [Related]

  • 6. Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations.
    Jin ZB, Liu XQ, Hayakawa M, Murakami A, Nao-i N.
    Mol Vis; 2006 Oct 06; 12():1167-74. PubMed ID: 17093403
    [Abstract] [Full Text] [Related]

  • 7. 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 06; 8(4):e1184. PubMed ID: 32100970
    [Abstract] [Full Text] [Related]

  • 8. Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.
    Liu YP, Bosch DG, Siemiatkowska AM, Rendtorff ND, Boonstra FN, Möller C, Tranebjærg L, Katsanis N, Cremers FP.
    Ophthalmic Genet; 2017 Apr 06; 38(2):127-132. PubMed ID: 27029556
    [Abstract] [Full Text] [Related]

  • 9. Identification of novel USH2A mutations in patients with autosomal recessive retinitis pigmentosa via targeted next‑generation sequencing.
    Zhu X, Li X, Tian W, Yang Y, Sun K, Li S, Zhu X.
    Mol Med Rep; 2020 Jul 06; 22(1):193-200. PubMed ID: 32319668
    [Abstract] [Full Text] [Related]

  • 10. Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.
    Littink KW, van den Born LI, Koenekoop RK, Collin RW, Zonneveld MN, Blokland EA, Khan H, Theelen T, Hoyng CB, Cremers FP, den Hollander AI, Klevering BJ.
    Ophthalmology; 2010 Oct 06; 117(10):2026-33, 2033.e1-7. PubMed ID: 20537394
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.
    Sheng X, Li Z, Zhang X, Wang J, Ren H, Sun Y, Meng R, Rong W, Zhuang W.
    Mol Vis; 2010 Aug 15; 16():1620-8. PubMed ID: 20806050
    [Abstract] [Full Text] [Related]

  • 13.
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  • 14. 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 15; 25():35-46. PubMed ID: 30804660
    [Abstract] [Full Text] [Related]

  • 15. Visual Outcomes in Japanese Patients with Retinitis Pigmentosa and Usher Syndrome Caused by USH2A Mutations.
    Nagase Y, Kurata K, Hosono K, Suto K, Hikoya A, Nakanishi H, Mizuta K, Mineta H, Minoshima S, Hotta Y.
    Semin Ophthalmol; 2018 Aug 15; 33(4):560-565. PubMed ID: 28678594
    [Abstract] [Full Text] [Related]

  • 16. Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
    Seyedahmadi BJ, Rivolta C, Keene JA, Berson EL, Dryja TP.
    Exp Eye Res; 2004 Aug 15; 79(2):167-73. PubMed ID: 15325563
    [Abstract] [Full Text] [Related]

  • 17. [Screening for point mutations in rhodopsin gene among one hundred Chinese patients with retinitis pigmentosa].
    Zhang X, Fu W, Pang CP, Yeung KY.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Dec 15; 19(6):463-6. PubMed ID: 12476415
    [Abstract] [Full Text] [Related]

  • 18. X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
    Fishman GA, Grover S, Jacobson SG, Alexander KR, Derlacki DJ, Wu W, Buraczynska M, Swaroop A.
    Ophthalmology; 1998 Dec 15; 105(12):2286-96. PubMed ID: 9855162
    [Abstract] [Full Text] [Related]

  • 19. Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa.
    Martinez-Gimeno M, Maseras M, Baiget M, Beneito M, Antiñolo G, Ayuso C, Carballo M.
    Hum Mutat; 2001 Jun 15; 17(6):520. PubMed ID: 11385710
    [Abstract] [Full Text] [Related]

  • 20. 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]

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