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Journal Abstract Search

132 related items for PubMed ID: 1424244

  • 41. Autosomal recessive retinitis pigmentosa locus RP28 maps between D2S1337 and D2S286 on chromosome 2p11-p15 in an Indian family.
    Gu S, Kumaramanickavel G, Srikumari CR, Denton MJ, Gal A.
    J Med Genet; 1999 Sep; 36(9):705-7. PubMed ID: 10507729
    [Abstract] [Full Text] [Related]

  • 42. Genetic aspects of retinitis pigmentosa in China.
    Hu DN.
    Am J Med Genet; 1982 May; 12(1):51-6. PubMed ID: 7091196
    [Abstract] [Full Text] [Related]

  • 43. A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease.
    Sullivan LJ, Makris GS, Dickinson P, Mulhall LE, Forrest S, Cotton RG, Loughnan MS.
    Arch Ophthalmol; 1993 Nov; 111(11):1512-7. PubMed ID: 8240107
    [Abstract] [Full Text] [Related]

  • 44. Co-inheritance of the membrane frizzled-related protein ocular phenotype and glycogen storage disease type Ib.
    Mameesh M, Ganesh A, Harikrishna B, Al Zuhaibi S, Scott P, Al Kalbani S, Al Thihli K.
    Ophthalmic Genet; 2017 Dec; 38(6):544-548. PubMed ID: 28511025
    [Abstract] [Full Text] [Related]

  • 45. Retinitis pigmentosa in India: a genetic and segregation analysis.
    Kar B, John S, Kumaramanickavel G.
    Clin Genet; 1995 Feb; 47(2):75-9. PubMed ID: 7606847
    [Abstract] [Full Text] [Related]

  • 46. Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.
    Sharon D, Banin E.
    Mol Vis; 2015 Feb; 21():783-92. PubMed ID: 26261414
    [Abstract] [Full Text] [Related]

  • 47. Cleft lip and cone-rod dystrophy in a consanguineous sibship.
    Ausems MG, Wittebol-Post D, Hennekam RC.
    Clin Dysmorphol; 1996 Oct; 5(4):307-11. PubMed ID: 8905195
    [Abstract] [Full Text] [Related]

  • 48. A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen.
    Crespí J, Buil JA, Bassaganyas F, Vela-Segarra JI, Díaz-Cascajosa J, Ayala-Ramírez R, Zenteno JC.
    Am J Ophthalmol; 2008 Aug; 146(2):323-328. PubMed ID: 18554571
    [Abstract] [Full Text] [Related]

  • 49. Severity of familial isolated retinitis pigmentosa across different inheritance patterns among an Asian Indian cohort.
    Bende P, Natarajan K, Marudhamuthu T, Madhavan J.
    J Pediatr Ophthalmol Strabismus; 2013 Aug; 50(1):34-6. PubMed ID: 23463886
    [Abstract] [Full Text] [Related]

  • 50. A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33.
    Bayés M, Goldaracena B, Martínez-Mir A, Iragui-Madoz MI, Solans T, Chivelet P, Bussaglia E, Ramos-Arroyo MA, Baiget M, Vilageliu L, Balcells S, Gonzàlez-Duarte R, Grinberg D.
    J Med Genet; 1998 Feb; 35(2):141-5. PubMed ID: 9507394
    [Abstract] [Full Text] [Related]

  • 51. Tapeto-retinal degeneration in four Norwegian counties, II. Diagnostic evaluation of 407 relatives and genetic evaluation of 87 families.
    Grøndahl J.
    Clin Genet; 1986 Jan; 29(1):17-41. PubMed ID: 3948428
    [Abstract] [Full Text] [Related]

  • 52. Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.
    Waseem NH, Vaclavik V, Webster A, Jenkins SA, Bird AC, Bhattacharya SS.
    Invest Ophthalmol Vis Sci; 2007 Mar; 48(3):1330-4. PubMed ID: 17325180
    [Abstract] [Full Text] [Related]

  • 53. Risk factors for genetic typing and detection in retinitis pigmentosa.
    Berson EL, Rosner B, Simonoff E.
    Am J Ophthalmol; 1980 Jun; 89(6):763-75. PubMed ID: 6966889
    [Abstract] [Full Text] [Related]

  • 54. Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa.
    Hayakawa M, Fujiki K, Kanai A, Matsumura M, Honda Y, Sakaue H, Tamai M, Sakuma T, Tokoro T, Yura T, Kubota N, Kawano S, Matsui M, Yuzawa M, Oguchi Y, Akeo K, Adachi E, Kimura T, Miyake Y, Horiguchi M, Wakabayashi K, Ishizaka N, Koizumi K, Uyama M, Ohba N.
    Jpn J Ophthalmol; 1997 Jun; 41(1):1-6. PubMed ID: 9147180
    [Abstract] [Full Text] [Related]

  • 55. Bardet-Biedl syndrome and retinitis punctata albescens in an isolated northern Canadian community.
    Pearce WG, Gillan JG, Brosseau L.
    Can J Ophthalmol; 1984 Apr; 19(3):115-8. PubMed ID: 6733577
    [Abstract] [Full Text] [Related]

  • 56. 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; 34(3):506-14. PubMed ID: 23281133
    [Abstract] [Full Text] [Related]

  • 57. 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]

  • 58. A mild phenotype of autosomal dominant retinitis pigmentosa is associated with the rhodopsin mutation Pro-267-Leu.
    Ponjavic V, Abrahamson M, Andréasson S, Ehinger B, Fex G, Polland W.
    Ophthalmic Genet; 1997 Jun; 18(2):63-70. PubMed ID: 9228242
    [Abstract] [Full Text] [Related]

  • 59. Ocular findings associated with a rhodopsin gene codon 58 transversion mutation in autosomal dominant retinitis pigmentosa.
    Fishman GA, Stone EM, Gilbert LD, Kenna P, Sheffield VC.
    Arch Ophthalmol; 1991 Oct; 109(10):1387-93. PubMed ID: 1929926
    [Abstract] [Full Text] [Related]

  • 60. Population genetic studies of retinitis pigmentosa.
    Boughman JA, Conneally PM, Nance WE.
    Am J Hum Genet; 1980 Mar; 32(2):223-35. PubMed ID: 7386458
    [Abstract] [Full Text] [Related]

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