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Journal Abstract Search
115 related items for PubMed ID: 519897
1. Retinal manifestations in familial juvenile nephronophthisis. Godel V, Iaina A, Nemet P, Lazar M. Clin Genet; 1979 Oct; 16(4):277-81. PubMed ID: 519897 [Abstract] [Full Text] [Related]
2. Sector retinitis pigmentosa in juvenile nephronophthisis. Godel V, Iaina A, Nemet P, Lazar M. Br J Ophthalmol; 1980 Feb; 64(2):124-6. PubMed ID: 7362813 [Abstract] [Full Text] [Related]
3. Hereditary renal-retinal dysplasia. Godel V, Iaina A, Nemet P, Lazar M. Doc Ophthalmol; 1980 Oct 15; 49(2):347-59. PubMed ID: 7438990 [Abstract] [Full Text] [Related]
5. Autosomal recessive retinitis pigmentosa and Coats disease: a presumed familial incidence. Lanier JD, McCrary JA, Justice J. Arch Ophthalmol; 1976 Oct 15; 94(10):1737-42. PubMed ID: 973820 [Abstract] [Full Text] [Related]
6. [Hereditary chorioretinal degeneration and nephronophthisis. The role of Senior-Löken syndrome]. Orssaud C, Kleinknecht C, Habib R, Broyer M. Ophtalmologie; 1989 Oct 15; 3(4):270-2. PubMed ID: 2641132 [Abstract] [Full Text] [Related]
7. Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. Rivolta C, Ayyagari R, Sieving PA, Berson EL, Dryja TP. Mol Vis; 2003 Feb 18; 9():49-51. PubMed ID: 12592226 [Abstract] [Full Text] [Related]
8. Familial nephropathy with retinitis pigmentosa and closed-angle glaucoma. Fiore C, Santoni G, Reggiani FM, Buoncristiani U, Pasticci B. Ophthalmic Paediatr Genet; 1985 Feb 18; 5(1-2):39-49. PubMed ID: 4058871 [Abstract] [Full Text] [Related]
9. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families. Srilekha S, Arokiasamy T, Srikrupa NN, Umashankar V, Meenakshi S, Sen P, Kapur S, Soumittra N. PLoS One; 2015 Feb 18; 10(7):e0131679. PubMed ID: 26147992 [Abstract] [Full Text] [Related]
10. [Association of pigmented retinopathy and Duchenne's disease in one family]. Marandian MH, Ramine M, Djafarian M, Farian H, Behvad A, Lessani M, Mahchid M. Ann Pediatr (Paris); 1977 Nov 18; 24(11):789-95. PubMed ID: 16211899 [No Abstract] [Full Text] [Related]
11. Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis. Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ, Gire AI, Hughbanks-Wheaton D, Birch DG, Lewis RA, Heckenlively JR, Daiger SP. Invest Ophthalmol Vis Sci; 2006 Jan 18; 47(1):34-42. PubMed ID: 16384941 [Abstract] [Full Text] [Related]
12. Familial ocular anomalies in juvenile nephronophthisis. Godel V, Iaina A, Goldman B. Metab Pediatr Ophthalmol; 1980 Jan 18; 4(1):25-9. PubMed ID: 6969336 [No Abstract] [Full Text] [Related]
13. A survey of hereditary aspects of pigmentary retinal dystrophies. Dickinson P, Mulhall L. Aust N Z J Ophthalmol; 1989 Aug 18; 17(3):247-56. PubMed ID: 2803770 [Abstract] [Full Text] [Related]
14. [Ocular manifestations associated with nephronophthisis and genetic study in three Tunisian families]. Sellami D, Makni K, Chaker H, Kharrat M, Hentati N, Kammoun K, Chabouni F, Ben Hamida M, Hachicha J, Salomon R, Antignac C, Ayadi H, Feki J. J Fr Ophtalmol; 2006 Nov 18; 29(9):1019-23. PubMed ID: 17114995 [Abstract] [Full Text] [Related]
15. Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa. Sweeney MO, McGee TL, Berson EL, Dryja TP. Mol Vis; 2007 Apr 05; 13():588-93. PubMed ID: 17438524 [Abstract] [Full Text] [Related]
16. [Electroretinography in nephronophthisis. Role of the Senior-Loken syndrome]. Puech JF, Renard G, Dufier JL, Blanck MF, Polliot L. Arch Ophtalmol (Paris); 1976 Apr 05; 36(4):313-20. PubMed ID: 135546 [Abstract] [Full Text] [Related]
17. Autosomal inheritance of "senile" retinitis pigmentosa. A report of a family with consanguinity. Bonneau D, Kaplan J, Girard G, Dufier JL. Clin Genet; 1992 Oct 05; 42(4):199-200. PubMed ID: 1424244 [Abstract] [Full Text] [Related]
18. Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa. Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC. Gene; 2013 Oct 10; 528(2):178-82. PubMed ID: 23900199 [Abstract] [Full Text] [Related]
19. A family with retinitis pigmentosa and ESRD with late presentation, hypertension and absence of polyuria or salt wasting. Friedlaender MM, Rubinger D, Silver J, Zlotogora J, Merin S, Popovtzer MM. Clin Nephrol; 1986 Apr 10; 25(4):202-6. PubMed ID: 3698352 [Abstract] [Full Text] [Related]
20. A syndrome with retinitis pigmentosa, progressive hearing impairment, vestibular dysfunction, and congenital cataract. Rosenberg T, Parving A. Acta Ophthalmol Scand Suppl; 1996 Apr 10; (219):50-3. PubMed ID: 8741120 [Abstract] [Full Text] [Related] Page: [Next] [New Search]