These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

108 related articles for article (PubMed ID: 17377520)

  • 1. Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
    Köhn L; Kadzhaev K; Burstedt MS; Haraldsson S; Hallberg B; Sandgren O; Golovleva I
    Eur J Hum Genet; 2007 Jun; 15(6):664-71. PubMed ID: 17377520
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation.
    Reinis A; Golovleva I; Köhn L; Sandgren O
    Acta Ophthalmol; 2013 May; 91(3):259-66. PubMed ID: 22405330
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families.
    Köhn L; Kadzhaev K; Burstedt MS; Haraldsson S; Sandgren O; Golovleva I
    Adv Exp Med Biol; 2008; 613():229-34. PubMed ID: 18188949
    [No Abstract]   [Full Text] [Related]  

  • 4. Autosomal dominant cone-rod dystrophy due to a missense mutation (R838C) in the guanylate cyclase 2D gene (GUCY2D) with preserved rod function in one branch of the family.
    Van Ghelue M; Eriksen HL; Ponjavic V; Fagerheim T; Andréasson S; Forsman-Semb K; Sandgren O; Holmgren G; Tranebjaerg L
    Ophthalmic Genet; 2000 Dec; 21(4):197-209. PubMed ID: 11135490
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Cloning and characterization of human homologue of Drosophila retinal degeneration B: a candidate gene for degenerative retinal diseases.
    Guo J; Yu FX
    Dev Genet; 1997; 20(3):235-45. PubMed ID: 9216063
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A).
    Jiang L; Katz BJ; Yang Z; Zhao Y; Faulkner N; Hu J; Baird J; Baehr W; Creel DJ; Zhang K
    Mol Vis; 2005 Feb; 11():143-51. PubMed ID: 15735604
    [TBL] [Abstract][Full Text] [Related]  

  • 7. PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.
    Köhn L; Kohl S; Bowne SJ; Sullivan LS; Kellner U; Daiger SP; Sandgren O; Golovleva I
    Ophthalmic Genet; 2010 Sep; 31(3):139-40. PubMed ID: 20590364
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
    Thiagalingam S; McGee TL; Weleber RG; Sandberg MA; Trzupek KM; Berson EL; Dryja TP
    Ophthalmic Genet; 2007 Sep; 28(3):135-42. PubMed ID: 17896311
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.
    Ben Salah S; Kamei S; Sénéćhal A; Lopez S; Bazalgette C; Bazalgette C; Eliaou CM; Zanlonghi X; Hamel CP
    Am J Ophthalmol; 2008 Jun; 145(6):1099-106. PubMed ID: 18400204
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance.
    Udar N; Yelchits S; Chalukya M; Yellore V; Nusinowitz S; Silva-Garcia R; Vrabec T; Hussles Maumenee I; Donoso L; Small KW
    Hum Mutat; 2003 Feb; 21(2):170-1. PubMed ID: 12552567
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
    Littink KW; van Genderen MM; Collin RW; Roosing S; de Brouwer AP; Riemslag FC; Venselaar H; Thiadens AA; Hoyng CB; Rohrschneider K; den Hollander AI; Cremers FP; van den Born LI
    Invest Ophthalmol Vis Sci; 2009 May; 50(5):2344-50. PubMed ID: 19074807
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Chromosomal localization, genomic organization and evolution of the genes encoding human phosphatidylinositol transfer protein membrane-associated (PITPNM) 1, 2 and 3.
    Ocaka L; Spalluto C; Wilson DI; Hunt DM; Halford S
    Cytogenet Genome Res; 2005; 108(4):293-302. PubMed ID: 15627748
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.
    Kitiratschky VB; Nagy D; Zabel T; Zrenner E; Wissinger B; Kohl S; Jägle H
    Br J Ophthalmol; 2008 Aug; 92(8):1086-91. PubMed ID: 18653602
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutation of cGMP phosphodiesterase 6alpha'-subunit gene causes progressive degeneration of cone photoreceptors in zebrafish.
    Nishiwaki Y; Komori A; Sagara H; Suzuki E; Manabe T; Hosoya T; Nojima Y; Wada H; Tanaka H; Okamoto H; Masai I
    Mech Dev; 2008; 125(11-12):932-46. PubMed ID: 18824093
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a novel family of targets of PYK2 related to Drosophila retinal degeneration B (rdgB) protein.
    Lev S; Hernandez J; Martinez R; Chen A; Plowman G; Schlessinger J
    Mol Cell Biol; 1999 Mar; 19(3):2278-88. PubMed ID: 10022914
    [TBL] [Abstract][Full Text] [Related]  

  • 17. CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
    Aleman TS; Soumittra N; Cideciyan AV; Sumaroka AM; Ramprasad VL; Herrera W; Windsor EA; Schwartz SB; Russell RC; Roman AJ; Inglehearn CF; Kumaramanickavel G; Stone EM; Fishman GA; Jacobson SG
    Invest Ophthalmol Vis Sci; 2009 Dec; 50(12):5944-54. PubMed ID: 19578027
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The role of the Nir/rdgB protein family in membrane trafficking and cytoskeleton remodeling.
    Lev S
    Exp Cell Res; 2004 Jul; 297(1):1-10. PubMed ID: 15194420
    [TBL] [Abstract][Full Text] [Related]  

  • 19. AUTOIMMUNE RETINOPATHY IN A PATIENT WITH A MISSENSE MUTATION IN PITPNM3.
    Bakhoum MF; Sengillo JD; Cui X; Tsang SH
    Retin Cases Brief Rep; 2018 Fall; 12 Suppl 1(Suppl 1):S72-S75. PubMed ID: 29176531
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
    Bernal S; Solans T; Gamundi MJ; Hernan I; de Jorge L; Carballo M; Navarro R; Tizzano E; Ayuso C; Baiget M
    Clin Genet; 2008 Apr; 73(4):360-6. PubMed ID: 18294254
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.