BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

194 related articles for article (PubMed ID: 10916181)

  • 1. Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene.
    Eksandh LB; Ponjavic VB; Munroe PB; Eiberg HE; Uvebrant PE; Ehinger BE; Mole SE; Andréasson S
    Ophthalmic Genet; 2000 Jun; 21(2):69-77. PubMed ID: 10916181
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.
    Mantel I; Brantley MA; Bellmann C; Robson AG; Holder GE; Taylor A; Anderson G; Moore AT
    Klin Monbl Augenheilkd; 2004 May; 221(5):427-30. PubMed ID: 15162299
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.
    Kwon JM; Rothberg PG; Leman AR; Weimer JM; Mink JW; Pearce DA
    Neurosci Lett; 2005 Oct; 387(2):111-4. PubMed ID: 16087292
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion).
    Järvelä I; Autti T; Lamminranta S; Aberg L; Raininko R; Santavuori P
    Ann Neurol; 1997 Nov; 42(5):799-802. PubMed ID: 9392580
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
    Sarpong A; Schottmann G; Rüther K; Stoltenburg G; Kohlschütter A; Hübner C; Schuelke M
    Clin Genet; 2009 Jul; 76(1):38-45. PubMed ID: 19489875
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease.
    Nakamura M; Yamamoto S; Okada M; Ito S; Tano Y; Miyake Y
    Ophthalmology; 2004 Jul; 111(7):1410-4. PubMed ID: 15234147
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Batten disease--deteriorating course of ocular findings.
    Horiguchi M; Miyake Y
    Jpn J Ophthalmol; 1992; 36(1):91-6. PubMed ID: 1635301
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
    Lewis CA; Batlle IR; Batlle KG; Banerjee P; Cideciyan AV; Huang J; Alemán TS; Huang Y; Ott J; Gilliam TC; Knowles JA; Jacobson SG
    Invest Ophthalmol Vis Sci; 1999 Aug; 40(9):2106-14. PubMed ID: 10440267
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease).
    Seigel GM; Lotery A; Kummer A; Bernard DJ; Greene ND; Turmaine M; Derksen T; Nussbaum RL; Davidson B; Wagner J; Mitchison HM
    Mol Cell Neurosci; 2002 Apr; 19(4):515-27. PubMed ID: 11988019
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
    Wissinger B; Dangel S; Jägle H; Hansen L; Baumann B; Rudolph G; Wolf C; Bonin M; Koeppen K; Ladewig T; Kohl S; Zrenner E; Rosenberg T
    Invest Ophthalmol Vis Sci; 2008 Feb; 49(2):751-7. PubMed ID: 18235024
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
    Hayashi T; Gekka T; Goto-Omoto S; Takeuchi T; Kubo A; Kitahara K
    Ophthalmology; 2005 Dec; 112(12):2115. PubMed ID: 16225923
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene.
    Nakamura M; Hotta Y; Tanikawa A; Terasaki H; Miyake Y
    Invest Ophthalmol Vis Sci; 2000 Nov; 41(12):3925-32. PubMed ID: 11053295
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
    Boon CJ; van den Born LI; Visser L; Keunen JE; Bergen AA; Booij JC; Riemslag FC; Florijn RJ; van Schooneveld MJ
    Ophthalmology; 2013 Apr; 120(4):809-20. PubMed ID: 23290749
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Retinal degeneration in motor neuron degeneration: a mouse model of ceroid lipofuscinosis.
    Chang B; Bronson RT; Hawes NL; Roderick TH; Peng C; Hageman GS; Heckenlively JR
    Invest Ophthalmol Vis Sci; 1994 Mar; 35(3):1071-6. PubMed ID: 8125718
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Strategy for mutation detection in CLN3: characterisation of two Finnish mutations.
    Munroe PB; O'Rawe AM; Mitchison HM; Järvelä IE; Santavuori P; Lerner TJ; Taschner PE; Gardiner RM; Mole SE
    Neuropediatrics; 1997 Feb; 28(1):15-7. PubMed ID: 9151312
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Phenotypic variation in enhanced S-cone syndrome.
    Audo I; Michaelides M; Robson AG; Hawlina M; Vaclavik V; Sandbach JM; Neveu MM; Hogg CR; Hunt DM; Moore AT; Bird AC; Webster AR; Holder GE
    Invest Ophthalmol Vis Sci; 2008 May; 49(5):2082-93. PubMed ID: 18436841
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2.
    Schatz P; Klar J; Andréasson S; Ponjavic V; Dahl N
    Ophthalmic Genet; 2006 Jun; 27(2):51-6. PubMed ID: 16754206
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Clinical findings in a carrier of a new mutation in the choroideremia gene.
    Potter MJ; Wong E; Szabo SM; McTaggart KE
    Ophthalmology; 2004 Oct; 111(10):1905-9. PubMed ID: 15465555
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Juvenile neuronal ceroid lipofuscinosis].
    Ostergaard JR; Hertz JM
    Ugeskr Laeger; 1998 Jun; 160(26):3895-900. PubMed ID: 9656828
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.
    Zhang Q; Zulfiqar F; Riazuddin SA; Xiao X; Yasmeen A; Rogan PK; Caruso R; Sieving PA; Riazuddin S; Hejtmancik JF
    Mol Vis; 2005 Nov; 11():977-85. PubMed ID: 16319817
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.