These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

117 related items for PubMed ID: 12362048

  • 21. Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model.
    Corton M, Blanco MJ, Torres M, Sanchez-Salorio M, Carracedo A, Brion M.
    Clin Genet; 2010 Nov; 78(5):495-8. PubMed ID: 21039428
    [No Abstract] [Full Text] [Related]

  • 22. Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa.
    Dryja TP, Rucinski DE, Chen SH, Berson EL.
    Invest Ophthalmol Vis Sci; 1999 Jul; 40(8):1859-65. PubMed ID: 10393062
    [Abstract] [Full Text] [Related]

  • 23. Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.
    Downey LM, Keen TJ, Jalili IK, McHale J, Aldred MJ, Robertson SP, Mighell A, Fayle S, Wissinger B, Inglehearn CF.
    Eur J Hum Genet; 2002 Dec; 10(12):865-9. PubMed ID: 12461695
    [Abstract] [Full Text] [Related]

  • 24. An intersubunit interaction regulates trafficking of rod cyclic nucleotide-gated channels and is disrupted in an inherited form of blindness.
    Trudeau MC, Zagotta WN.
    Neuron; 2002 Apr 11; 34(2):197-207. PubMed ID: 11970862
    [Abstract] [Full Text] [Related]

  • 25. The ABCA4 gene in autosomal recessive cone-rod dystrophies.
    Ducroq D, Rozet JM, Gerber S, Perrault I, Barbet D, Hanein S, Hakiki S, Dufier JL, Munnich A, Hamel C, Kaplan J.
    Am J Hum Genet; 2002 Dec 11; 71(6):1480-2. PubMed ID: 12515255
    [No Abstract] [Full Text] [Related]

  • 26. Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa.
    Khaliq S, Abid A, Ismail M, Hameed A, Mohyuddin A, Lall P, Aziz A, Anwar K, Mehdi SQ.
    J Med Genet; 2005 May 11; 42(5):436-8. PubMed ID: 15863674
    [No Abstract] [Full Text] [Related]

  • 27. Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa.
    den Hollander AI, van Lith-Verhoeven JJ, Arends ML, Strom TM, Cremers FP, Hoyng CB.
    Arch Ophthalmol; 2007 Jul 11; 125(7):932-5. PubMed ID: 17620573
    [Abstract] [Full Text] [Related]

  • 28. Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans.
    Nevet MJ, Shalev SA, Zlotogora J, Mazzawi N, Ben-Yosef T.
    J Med Genet; 2010 Aug 11; 47(8):533-7. PubMed ID: 20507925
    [Abstract] [Full Text] [Related]

  • 29. Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.
    Riazuddin SA, Zulfiqar F, Zhang Q, Sergeev YV, Qazi ZA, Husnain T, Caruso R, Riazuddin S, Sieving PA, Hejtmancik JF.
    Invest Ophthalmol Vis Sci; 2005 Jul 11; 46(7):2264-70. PubMed ID: 15980210
    [Abstract] [Full Text] [Related]

  • 30. Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.
    McLaughlin ME, Ehrhart TL, Berson EL, Dryja TP.
    Proc Natl Acad Sci U S A; 1995 Apr 11; 92(8):3249-53. PubMed ID: 7724547
    [Abstract] [Full Text] [Related]

  • 31. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.
    McLaughlin ME, Sandberg MA, Berson EL, Dryja TP.
    Nat Genet; 1993 Jun 11; 4(2):130-4. PubMed ID: 8394174
    [Abstract] [Full Text] [Related]

  • 32. A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family.
    Sultan N, Ali I, Bukhari SA, Baig SM, Asif M, Qasim M, Naseer MI, Rasool M.
    Genes Genomics; 2018 May 11; 40(5):553-559. PubMed ID: 29892959
    [Abstract] [Full Text] [Related]

  • 33. Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus.
    Abd El-Aziz MM, El-Ashry MF, Barragan I, Marcos I, Borrego S, Antiñolo G, Bhattacharya SS.
    Curr Eye Res; 2005 Dec 11; 30(12):1081-7. PubMed ID: 16354621
    [Abstract] [Full Text] [Related]

  • 34. 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 11; 22():797-815. PubMed ID: 27440997
    [Abstract] [Full Text] [Related]

  • 35. Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract.
    El-Haig WM, Jakobsson C, Favez T, Schorderet DF, Abouzeid H.
    Br J Ophthalmol; 2014 Dec 11; 98(12):1718-23. PubMed ID: 25091951
    [Abstract] [Full Text] [Related]

  • 36. Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family.
    Jin X, Qu LH, Hou BK, Xu HW, Meng XH, Pang CP, Yin ZQ.
    Biosci Rep; 2016 Dec 11; 36(1):e00289. PubMed ID: 26802146
    [Abstract] [Full Text] [Related]

  • 37. 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 11; 60(10):625-30. PubMed ID: 26246154
    [Abstract] [Full Text] [Related]

  • 38. Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.
    Khan AO, Aldahmesh MA, Abu-Safieh L, Alkuraya FS.
    Ophthalmic Genet; 2014 Sep 11; 35(3):130-7. PubMed ID: 23767994
    [Abstract] [Full Text] [Related]

  • 39. Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden.
    Golovleva I, Köhn L, Burstedt M, Daiger S, Sandgren O.
    Adv Exp Med Biol; 2010 Sep 11; 664():255-62. PubMed ID: 20238024
    [Abstract] [Full Text] [Related]

  • 40.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 6.