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Journal Abstract Search

216 related items for PubMed ID: 19960070

  • 1. A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
    Azam M, Khan MI, Gal A, Hussain A, Shah ST, Khan MS, Sadeque A, Bokhari H, Collin RW, Orth U, van Genderen MM, den Hollander AI, Cremers FP, Qamar R.
    Mol Vis; 2009 Dec 03; 15():2526-34. PubMed ID: 19960070
    [Abstract] [Full Text] [Related]

  • 2. A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa.
    Kartasasmita A, Fujiki K, Iskandar E, Sovani I, Fujimaki T, Murakami A.
    Ophthalmic Genet; 2011 Mar 03; 32(1):57-63. PubMed ID: 21174529
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  • 3. A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa.
    Tiab L, Largueche L, Chouchane I, Derouiche K, Munier FL, El Matri L, Schorderet DF.
    Mol Vis; 2013 Mar 03; 19():829-34. PubMed ID: 23592920
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  • 4. Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa.
    Huang Y, Zhang J, Li C, Yang G, Liu M, Wang QK, Tang Z.
    BMC Med Genet; 2010 Aug 10; 11():121. PubMed ID: 20696082
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  • 5. Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening.
    Singh HP, Jalali S, Narayanan R, Kannabiran C.
    Invest Ophthalmol Vis Sci; 2009 Sep 10; 50(9):4065-71. PubMed ID: 19339744
    [Abstract] [Full Text] [Related]

  • 6. Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa.
    Ajmal M, Khan MI, Micheal S, Ahmed W, Shah A, Venselaar H, Bokhari H, Azam A, Waheed NK, Collin RW, den Hollander AI, Qamar R, Cremers FP.
    Mol Vis; 2012 Sep 10; 18():1226-37. PubMed ID: 22665969
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  • 7. Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.
    Kannabiran C, Singh H, Sahini N, Jalali S, Mohan G.
    Mol Vis; 2012 Sep 10; 18():1165-74. PubMed ID: 22605927
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  • 8. A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
    Kondo H, Qin M, Mizota A, Kondo M, Hayashi H, Hayashi K, Oshima K, Tahira T, Hayashi K.
    Invest Ophthalmol Vis Sci; 2004 Dec 10; 45(12):4433-9. PubMed ID: 15557452
    [Abstract] [Full Text] [Related]

  • 9. Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases.
    Ullah I, Kabir F, Iqbal M, Gottsch CB, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.
    Mol Vis; 2016 Dec 10; 22():797-815. PubMed ID: 27440997
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  • 12. Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.
    Xu W, Dai H, Lu T, Zhang X, Dong B, Li Y.
    Mol Vis; 2011 Dec 10; 17():1537-52. PubMed ID: 21686329
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  • 14. Diverse clinical phenotypes associated with a nonsense mutation in FAM161A.
    Rose AM, Sergouniotis P, Alfano G, Muspratt-Tucker N, Barton S, Moore AT, Black G, Bhattacharya SS, Webster AR.
    Eye (Lond); 2015 Sep 10; 29(9):1226-32. PubMed ID: 26113502
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  • 15. Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.
    Iqbal M, Naeem MA, Riazuddin SA, Ali S, Farooq T, Qazi ZA, Khan SN, Husnain T, Riazuddin S, Sieving PA, Hejtmancik JF, Riazuddin S.
    Arch Ophthalmol; 2011 Oct 10; 129(10):1351-7. PubMed ID: 21987678
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  • 16. Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.
    Riazuddin SA, Zulfiqar F, Zhang Q, Yao W, Li S, Jiao X, Shahzadi A, Amer M, Iqbal M, Hussnain T, Sieving PA, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2006 Oct 26; 12():1283-91. PubMed ID: 17110911
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  • 17. Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping.
    Siemiatkowska AM, Arimadyo K, Moruz LM, Astuti GD, de Castro-Miro M, Zonneveld MN, Strom TM, de Wijs IJ, Hoefsloot LH, Faradz SM, Cremers FP, den Hollander AI, Collin RW.
    Mol Vis; 2011 Oct 26; 17():3013-24. PubMed ID: 22128245
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  • 18. Homozygosity mapping of autosomal recessive retinitis pigmentosa locus (RP22) on chromosome 16p12.1-p12.3.
    Finckh U, Xu S, Kumaramanickavel G, Schürmann M, Mukkadan JK, Fernandez ST, John S, Weber JL, Denton MJ, Gal A.
    Genomics; 1998 Mar 15; 48(3):341-5. PubMed ID: 9545639
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  • 19. A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.
    Aziz N, Ullah M, Rashid A, Hussain Z, Shah K, Awan A, Khan M, Ullah I, Rehman AU.
    BMC Ophthalmol; 2023 Mar 23; 23(1):116. PubMed ID: 36959549
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