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Journal Abstract Search

339 related items for PubMed ID: 8556816

  • 1. Retinitis pigmentosa in Spain. The Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.
    Ayuso C, Garcia-Sandoval B, Najera C, Valverde D, Carballo M, Antiñolo G.
    Clin Genet; 1995 Sep; 48(3):120-2. PubMed ID: 8556816
    [Abstract] [Full Text] [Related]

  • 2. Epidemiology of retinitis pigmentosa in the Valencian community (Spain).
    Nájera C, Millán JM, Beneyto M, Prieto F.
    Genet Epidemiol; 1995 Sep; 12(1):37-46. PubMed ID: 7713399
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Figures and fantasies: the frequencies of the different genetic forms of retinitis pigmentosa.
    Jay M.
    Birth Defects Orig Artic Ser; 1982 May; 18(6):167-73. PubMed ID: 7171752
    [No Abstract] [Full Text] [Related]

  • 5. [Distribution of the frequency of various Mendelian modes of inheritance in families with retinopathia pigmentosa. Results of an evaluation of the RP register of the Munster University Ophthalmology Clinic].
    Gerding H, Busse H.
    Ophthalmologe; 1994 Jun; 91(3):322-8. PubMed ID: 8086748
    [Abstract] [Full Text] [Related]

  • 6. Problems in detecting etiological heterogeneity in genetic disease illustrated with retinitis pigmentosa.
    Beaty TH, Boughman JA.
    Am J Med Genet; 1986 Jul; 24(3):493-504. PubMed ID: 3728568
    [Abstract] [Full Text] [Related]

  • 7. Retinitis pigmentosa in South Africa.
    Oswald AH, Goldblatt J, Sampson G, Clokie R, Beighton P.
    S Afr Med J; 1985 Dec 07; 68(12):863-6. PubMed ID: 4071341
    [Abstract] [Full Text] [Related]

  • 8. Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2).
    Beneyto MM, Cuevas JM, Millán JM, Espinós C, Mateu E, González-Cabo P, Baiget M, Doménech M, Bernal S, Ayuso C, García-Sandoval B, Trujillo MJ, Borrego S, Antiñolo G, Carballo M, Nájera C.
    Ophthalmic Genet; 2000 Jun 07; 21(2):123-8. PubMed ID: 10916187
    [Abstract] [Full Text] [Related]

  • 9. 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 07; 17(6):520. PubMed ID: 11385710
    [Abstract] [Full Text] [Related]

  • 10. Genetic and clinical characterization of a survey population with retinitis pigmentosa.
    Boughman JA, Caldwell RJ.
    Prog Clin Biol Res; 1982 Jun 07; 82():147-66. PubMed ID: 7111271
    [No Abstract] [Full Text] [Related]

  • 11. Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.
    Vallespin E, Lopez-Martinez MA, Cantalapiedra D, Riveiro-Alvarez R, Aguirre-Lamban J, Avila-Fernandez A, Villaverde C, Trujillo-Tiebas MJ, Ayuso C.
    Mol Vis; 2007 Nov 27; 13():2160-2. PubMed ID: 18079693
    [Abstract] [Full Text] [Related]

  • 12. Retinitis pigmentosa in Ontario - a survey.
    Macrae WG.
    Birth Defects Orig Artic Ser; 1982 Nov 27; 18(6):175-85. PubMed ID: 7171753
    [No Abstract] [Full Text] [Related]

  • 13.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 14. Exclusion of linkage between D3S47 (C17) and ADRPII gene in two large families of moderate autosomal dominant retinitis pigmentosa: evidence for genetic heterogeneity.
    Kaplan J, Guasconi G, Dufier JL, Michel-Awad A, David A, Munnich A, Frezal J.
    Ann Genet; 1990 Nov 27; 33(3):152-4. PubMed ID: 2288459
    [Abstract] [Full Text] [Related]

  • 15. Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs.
    Barragán I, Borrego S, Abd El-Aziz MM, El-Ashry MF, Abu-Safieh L, Bhattacharya SS, Antiñolo G.
    Ann Hum Genet; 2008 Jan 27; 72(Pt 1):26-34. PubMed ID: 17803723
    [Abstract] [Full Text] [Related]

  • 16. CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.
    Avila-Fernandez A, Riveiro-Alvarez R, Vallespin E, Wilke R, Tapias I, Cantalapiedra D, Aguirre-Lamban J, Gimenez A, Trujillo-Tiebas MJ, Ayuso C.
    Invest Ophthalmol Vis Sci; 2008 Jun 27; 49(6):2709-13. PubMed ID: 18515597
    [Abstract] [Full Text] [Related]

  • 17. Retinitis pigmentosa genetics: a study in Indian population.
    Vinchurkar MS, Sathye SM, Dikshit M.
    Indian J Ophthalmol; 1996 Jun 27; 44(2):77-82. PubMed ID: 8916593
    [Abstract] [Full Text] [Related]

  • 18. Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Ahmad Z, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2004 Nov 17; 10():884-9. PubMed ID: 15570217
    [Abstract] [Full Text] [Related]

  • 19. 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 17; 46(7):2264-70. PubMed ID: 15980210
    [Abstract] [Full Text] [Related]

  • 20. [Genetic heterogeneity of retinitis pigmentosa].
    Krawczyński MR, Pecold K.
    Klin Oczna; 1994 Jan 17; 96(1):24-9. PubMed ID: 8078270
    [Abstract] [Full Text] [Related]

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