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Journal Abstract Search

175 related items for PubMed ID: 1248184

  • 1. Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families.
    Fillastre JP, Guenel J, Riberi P, Marx P, Whitworth JA, Kunh JM.
    Clin Nephrol; 1976 Jan; 5(1):14-9. PubMed ID: 1248184
    [Abstract] [Full Text] [Related]

  • 2. [Electroretinography in nephronophthisis. Role of the Senior-Loken syndrome].
    Puech JF, Renard G, Dufier JL, Blanck MF, Polliot L.
    Arch Ophtalmol (Paris); 1976 Apr; 36(4):313-20. PubMed ID: 135546
    [Abstract] [Full Text] [Related]

  • 3. [Nephronophthisis, tapeto-retinal degeneration, encephalopathy and vermian agenesis: a new association. Apropos of 3 familial cases].
    Marchal JL, Hehunstre JP, Deminière C, Guérin J, Romanet P.
    Ann Pediatr (Paris); 1989 Feb; 36(2):126-31. PubMed ID: 2648941
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  • 4. Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Løken syndrome?
    Vogel P, Gelfman CM, Issa T, Payne BJ, Hansen GM, Read RW, Jones C, Pitcher MR, Ding ZM, DaCosta CM, Shadoan MK, Vance RB, Powell DR.
    Vet Pathol; 2015 May; 52(3):580-95. PubMed ID: 25161209
    [Abstract] [Full Text] [Related]

  • 5. Senior-Loken syndrome in an Iranian family.
    Roozbeh J, Sharifian M, Hosseini H, Sagheb MM, Behzadi S, Raeisjalali GA, Iraniparast A, Afshariani R, Tohidi M, Sharifian M.
    Saudi J Kidney Dis Transpl; 2010 Jul; 21(4):735-7. PubMed ID: 20587883
    [Abstract] [Full Text] [Related]

  • 6. [Familial interstitial chronic nephropathy (nephronophthisis and tapeto-retiniana degeneration (Senior-Loken syndrome)].
    Arias M, Zubimendi JA, Val F, de Castro S, Llamazares C.
    Rev Clin Esp; 1975 Sep 15; 138(5):481-5. PubMed ID: 1178997
    [No Abstract] [Full Text] [Related]

  • 7. Retinal involvement in a case of nephronophthisis associated with liver fibrosis Senior-Boichis syndrome.
    Stanescu B, Michiels J, Proesmans W, Van Damme B.
    Birth Defects Orig Artic Ser; 1976 Sep 15; 12(3):463-74. PubMed ID: 953201
    [Abstract] [Full Text] [Related]

  • 8. [Hereditary chorioretinal degeneration and nephronophthisis. The role of Senior-Löken syndrome].
    Orssaud C, Kleinknecht C, Habib R, Broyer M.
    Ophtalmologie; 1989 Sep 15; 3(4):270-2. PubMed ID: 2641132
    [Abstract] [Full Text] [Related]

  • 9. [Adult nephronophthisis: a single disease or 2 diseases?].
    Grateau G, Grünfeld JP, Droz D, Noël LH.
    Nephrologie; 1986 Sep 15; 7(3):104-8. PubMed ID: 3534613
    [Abstract] [Full Text] [Related]

  • 10. Twins with senior-Loken syndrome.
    Giridhar S, Padmaraj R, Senguttuvan P.
    Indian J Pediatr; 2006 Nov 15; 73(11):1041-3. PubMed ID: 17127790
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  • 12. [Chronic tubulo-interstitial nephropathy and tapetal-retinal degeneration. Senior's syndrome?].
    André JL, Afflalo G, Duprez A, Kifffer B, Neimann N.
    Sem Hop; 1975 Dec 23; 51(49):2995-3000. PubMed ID: 174219
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  • 14. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
    Mollet G, Salomon R, Gribouval O, Silbermann F, Bacq D, Landthaler G, Milford D, Nayir A, Rizzoni G, Antignac C, Saunier S.
    Nat Genet; 2002 Oct 23; 32(2):300-5. PubMed ID: 12244321
    [Abstract] [Full Text] [Related]

  • 15. 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 23; 29(1):17-41. PubMed ID: 3948428
    [Abstract] [Full Text] [Related]

  • 16. Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
    Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL.
    Invest Ophthalmol Vis Sci; 2007 Nov 23; 48(11):5160-7. PubMed ID: 17962469
    [Abstract] [Full Text] [Related]

  • 17. [Nephronophthisis: study of 10 cases. Incidence, natural history and associated pathology (author's transl)].
    Gómez Campderá FJ, Niembro E, López Gómez JM, Canals MJ, Bárcenas MC, Gómez JA, Rengel MA, Luque de Pablos A.
    Med Clin (Barc); 1981 Oct 10; 77(6):230-5. PubMed ID: 7321636
    [Abstract] [Full Text] [Related]

  • 18. Three new cases of Alström syndrome.
    Benso C, Hadjadj E, Conrath J, Denis D.
    Graefes Arch Clin Exp Ophthalmol; 2002 Aug 10; 240(8):622-7. PubMed ID: 12192455
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  • 20. New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis.
    Ehara H, Nakano C, Ohno K, Goto YI, Takeshita K.
    Am J Med Genet; 1997 Aug 22; 71(3):258-66. PubMed ID: 9268092
    [Abstract] [Full Text] [Related]

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