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Journal Abstract Search

524 related items for PubMed ID: 25999675

  • 21. Novel mutations of CRB1 in Chinese families presenting with retinal dystrophies.
    Yang L, Wu L, Yin X, Chen N, Li G, Ma Z.
    Mol Vis; 2014; 20():359-67. PubMed ID: 24715753
    [Abstract] [Full Text] [Related]

  • 22. Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population.
    Zhou Y, Saikia BB, Jiang Z, Zhu X, Liu Y, Huang L, Kim R, Yang Y, Qu C, Hao F, Gong B, Tai Z, Niu L, Yang Z, Sundaresan P, Zhu X.
    J Hum Genet; 2015 Oct; 60(10):625-30. PubMed ID: 26246154
    [Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants.
    Kousal B, Dudakova L, Gaillyova R, Hejtmankova M, Diblik P, Michaelides M, Liskova P.
    Graefes Arch Clin Exp Ophthalmol; 2016 Sep 27; 254(9):1833-9. PubMed ID: 27113771
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  • 25. RGR variants in different forms of retinal diseases: The undetermined role of truncation mutations.
    Li J, Xiao X, Li S, Jia X, Guo X, Zhang Q.
    Mol Med Rep; 2016 Nov 27; 14(5):4811-4815. PubMed ID: 27748892
    [Abstract] [Full Text] [Related]

  • 26. Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.
    Sun W, Huang L, Xu Y, Xiao X, Li S, Jia X, Gao B, Wang P, Guo X, Zhang Q.
    Invest Ophthalmol Vis Sci; 2015 Dec 27; 56(13):8365-72. PubMed ID: 26747767
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  • 27. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
    Clark GR, Crowe P, Muszynska D, O'Prey D, O'Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA.
    Ophthalmology; 2010 Nov 27; 117(11):2169-77.e3. PubMed ID: 20591486
    [Abstract] [Full Text] [Related]

  • 28. Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.
    Di Y, Huang L, Sundaresan P, Li S, Kim R, Ballav Saikia B, Qu C, Zhu X, Zhou Y, Jiang Z, Zhang L, Lin Y, Zhang D, Li Y, Zhang H, Yin Y, Lu F, Zhu X, Yang Z.
    Sci Rep; 2016 Jan 20; 6():19432. PubMed ID: 26787102
    [Abstract] [Full Text] [Related]

  • 29. Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families.
    Kastner S, Thiemann IJ, Dekomien G, Petrasch-Parwez E, Schreiber S, Akkad DA, Gerding WM, Hoffjan S, Günes S, Günes S, Bagci H, Epplen JT.
    Invest Ophthalmol Vis Sci; 2015 Dec 20; 56(13):8045-53. PubMed ID: 26720455
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  • 30. Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.
    Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP.
    Invest Ophthalmol Vis Sci; 2006 Jul 20; 47(7):3052-64. PubMed ID: 16799052
    [Abstract] [Full Text] [Related]

  • 31. Variants in RCBTB1 are Associated with Autosomal Recessive Retinitis Pigmentosa but Not Autosomal Dominant FEVR.
    Yang J, Xiao X, Sun W, Li S, Jia X, Zhang Q.
    Curr Eye Res; 2021 Jun 20; 46(6):839-844. PubMed ID: 33104391
    [Abstract] [Full Text] [Related]

  • 32. 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 Jun 20; 38(2):127-132. PubMed ID: 27029556
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  • 33. Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.
    Lazar CH, Mutsuddi M, Kimchi A, Zelinger L, Mizrahi-Meissonnier L, Marks-Ohana D, Boleda A, Ratnapriya R, Sharon D, Swaroop A, Banin E.
    Invest Ophthalmol Vis Sci; 2014 Dec 16; 56(1):420-30. PubMed ID: 25515582
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  • 34. 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 16; 8(4):e1184. PubMed ID: 32100970
    [Abstract] [Full Text] [Related]

  • 35. 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 Apr 16; 28():96-113. PubMed ID: 35814500
    [Abstract] [Full Text] [Related]

  • 36. Identification of Novel Genomic-Variant Patterns of OR56A5, OR52L1, and CTSD in Retinitis Pigmentosa Patients by Whole-Exome Sequencing.
    Lin TY, Chang YC, Hsiao YJ, Chien Y, Jheng YC, Wu JR, Ching LJ, Hwang DK, Hsu CC, Lin TC, Chou YB, Huang YM, Chen SJ, Yang YP, Tsai PH.
    Int J Mol Sci; 2021 May 25; 22(11):. PubMed ID: 34070492
    [Abstract] [Full Text] [Related]

  • 37. Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa.
    Beheshtian M, Saee Rad S, Babanejad M, Mohseni M, Hashemi H, Eshghabadi A, Hajizadeh F, Akbari MR, Kahrizi K, Riazi Esfahani M, Najmabadi H.
    Arch Iran Med; 2015 Nov 25; 18(11):776-85. PubMed ID: 26497376
    [Abstract] [Full Text] [Related]

  • 38. Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP).
    Daiger SP, Sullivan LS, Bowne SJ, Koboldt DC, Blanton SH, Wheaton DK, Avery CE, Cadena ED, Koenekoop RK, Fulton RS, Wilson RK, Weinstock GM, Lewis RA, Birch DG.
    Adv Exp Med Biol; 2016 Nov 25; 854():193-200. PubMed ID: 26427411
    [Abstract] [Full Text] [Related]

  • 39. A novel start codon mutation of the MERTK gene in a patient with retinitis pigmentosa.
    Jinda W, Poungvarin N, Taylor TD, Suzuki Y, Thongnoppakhun W, Limwongse C, Lertrit P, Suriyaphol P, Atchaneeyasakul LO.
    Mol Vis; 2016 Nov 25; 22():342-51. PubMed ID: 27122965
    [Abstract] [Full Text] [Related]

  • 40. Genetic and clinical analysis in Chinese patients with retinitis pigmentosa caused by EYS mutations.
    Sun Y, Li JK, He W, Wang ZS, Bai JY, Xu L, Xing B, Zhang JG, Wang L, Li W, Chen F.
    Mol Genet Genomic Med; 2020 Mar 25; 8(3):e1117. PubMed ID: 31944634
    [Abstract] [Full Text] [Related]

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