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Journal Abstract Search

143 related items for PubMed ID: 2641132

  • 21. Familial nephropathy with retinitis pigmentosa and closed-angle glaucoma.
    Fiore C, Santoni G, Reggiani FM, Buoncristiani U, Pasticci B.
    Ophthalmic Paediatr Genet; 1985 Feb; 5(1-2):39-49. PubMed ID: 4058871
    [Abstract] [Full Text] [Related]

  • 22. Radial perivascular chorioretinal degeneration and retinal detachment.
    Hagler WS, Crosswell HH.
    Trans Am Acad Ophthalmol Otolaryngol; 1968 Feb; 72(2):203-16. PubMed ID: 5659901
    [No Abstract] [Full Text] [Related]

  • 23. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
    Otto EA, Helou J, Allen SJ, O'Toole JF, Wise EL, Ashraf S, Attanasio M, Zhou W, Wolf MT, Hildebrandt F.
    Hum Mutat; 2008 Mar; 29(3):418-26. PubMed ID: 18076122
    [Abstract] [Full Text] [Related]

  • 24. A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.
    Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, Dufier JL, Kleinknecht C, Broyer M.
    Nat Genet; 1993 Apr; 3(4):342-5. PubMed ID: 7981755
    [Abstract] [Full Text] [Related]

  • 25. [Genetic aspects in pigmentary retinopathy].
    Preoteasa D.
    Oftalmologia; 1996 Apr; 40(2):137-44. PubMed ID: 8717081
    [Abstract] [Full Text] [Related]

  • 26. [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
    [Abstract] [Full Text] [Related]

  • 27. Senior-Loken syndrome (nephronophthisis and pigmentary retinopathy) associated to liver fibrosis: a family study.
    Fernández-Rodriguez R, Morales JM, Martínez R, Lizasoaín M, Colina F, Martínez MA, Praga M, Prieto C, Rodicio JL.
    Nephron; 1990 Feb; 55(1):74-7. PubMed ID: 2191234
    [Abstract] [Full Text] [Related]

  • 28. [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]

  • 29. A Japanese child with Senior-Loken syndrome.
    Sekiya K, Nakazawa M, Tanaka H.
    Jpn J Ophthalmol; 2001 Sep 15; 45(6):636-9. PubMed ID: 11754908
    [Abstract] [Full Text] [Related]

  • 30. Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis.
    Proesmans W, Van Damme B, Macken J.
    Clin Nephrol; 1975 Sep 15; 3(4):160-4. PubMed ID: 1149338
    [Abstract] [Full Text] [Related]

  • 31. Familial ocular anomalies in juvenile nephronophthisis.
    Godel V, Iaina A, Goldman B.
    Metab Pediatr Ophthalmol; 1980 Sep 15; 4(1):25-9. PubMed ID: 6969336
    [No Abstract] [Full Text] [Related]

  • 32. [Two cases of Senior-Loken syndrome].
    Oyama T, Usui T, Hasebe H, Miki A, Matsumoto S, Suda K, Saito N, Imai K, Takagi M, Yoshizawa T, Abe H.
    Nippon Ganka Gakkai Zasshi; 2004 Jan 15; 108(1):29-37. PubMed ID: 14969091
    [Abstract] [Full Text] [Related]

  • 33. 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 15; 32(2):300-5. PubMed ID: 12244321
    [Abstract] [Full Text] [Related]

  • 34. Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
    Hoefele J, Sudbrak R, Reinhardt R, Lehrack S, Hennig S, Imm A, Muerb U, Utsch B, Attanasio M, O'Toole JF, Otto E, Hildebrandt F.
    Hum Mutat; 2005 Apr 15; 25(4):411. PubMed ID: 15776426
    [Abstract] [Full Text] [Related]

  • 35. [Evaluation of some clinical parameters in patients with retinitis pigmentosa in relationship to the type of inheritance].
    Zalewska R, Midro AT, Stankiewicz A, Mariak Z, Proniewska-Skretek E, Sobolewski P.
    Klin Oczna; 1999 Apr 15; 101(1):29-32. PubMed ID: 10401211
    [Abstract] [Full Text] [Related]

  • 36. Bardet-Biedl syndrome.
    Keith CG.
    Aust J Ophthalmol; 1984 May 15; 12(2):143-8. PubMed ID: 6487184
    [Abstract] [Full Text] [Related]

  • 37. [Autosomal recessive hereditary type of pigmentary degeneration of the retina].
    Ondrejcák M, Michalíková E.
    Cesk Oftalmol; 1976 Mar 15; 32(2):142-4. PubMed ID: 1268993
    [No Abstract] [Full Text] [Related]

  • 38. Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn.
    Wada Y, Sandberg MA, McGee TL, Stillberger MA, Berson EL, Dryja TP.
    Invest Ophthalmol Vis Sci; 2005 May 15; 46(5):1735-41. PubMed ID: 15851576
    [Abstract] [Full Text] [Related]

  • 39. [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 15; 29(9):1019-23. PubMed ID: 17114995
    [Abstract] [Full Text] [Related]

  • 40. 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 15; 52(3):580-95. PubMed ID: 25161209
    [Abstract] [Full Text] [Related]

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