BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 22183355)

  • 1. Congenital stationary night blindness: mutation update and clinical variability.
    Lodha N; Loucks CM; Beaulieu C; Parboosingh JS; Bech-Hansen NT
    Adv Exp Med Biol; 2012; 723():371-9. PubMed ID: 22183355
    [No Abstract]   [Full Text] [Related]  

  • 2. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
    Bijveld MM; Florijn RJ; Bergen AA; van den Born LI; Kamermans M; Prick L; Riemslag FC; van Schooneveld MJ; Kappers AM; van Genderen MM
    Ophthalmology; 2013 Oct; 120(10):2072-81. PubMed ID: 23714322
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of a novel GRM6 mutation in a previously described consanguineous family with complete congenital stationary night blindness.
    Tourville A; Michiels C; Condroyer C; Meunier A; Cordonnier M; Sahel JA; Audo I; Abramowicz M; Zeitz C
    Ophthalmic Genet; 2019 Apr; 40(2):182-184. PubMed ID: 31063016
    [No Abstract]   [Full Text] [Related]  

  • 4. Identification of a new mutant allele, Grm6(nob7), for complete congenital stationary night blindness.
    Qian H; Ji R; Gregg RG; Peachey NS
    Vis Neurosci; 2015 Jan; 32():E004. PubMed ID: 26241901
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.
    Jacobi FK; Hamel CP; Arnaud B; Blin N; Broghammer M; Jacobi PC; Apfelstedt-Sylla E; Pusch CM
    Am J Ophthalmol; 2003 May; 135(5):733-6. PubMed ID: 12719097
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene.
    Vincent A; Héon E
    Eye (Lond); 2012 Sep; 26(9):1278-80. PubMed ID: 22744390
    [No Abstract]   [Full Text] [Related]  

  • 7. Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.
    Al Oreany AA; Al Hadlaq A; Schatz P
    Graefes Arch Clin Exp Ophthalmol; 2016 Oct; 254(10):1951-1956. PubMed ID: 27084085
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F.
    Abdelkader E; AlHilali S; Neuhaus C; Bergmann C; AlMurshed T; Schatz P
    Ophthalmic Genet; 2018 Oct; 39(5):659-661. PubMed ID: 30067413
    [No Abstract]   [Full Text] [Related]  

  • 9. Novel frameshift mutation in
    Ivanova ME; Zolnikova IV; Gorgisheli KV; Atarshchikov DS; Ghosh P; Barh D
    Ophthalmic Genet; 2019 Dec; 40(6):558-563. PubMed ID: 31826698
    [No Abstract]   [Full Text] [Related]  

  • 10. A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.
    Kondo M; Das G; Imai R; Santana E; Nakashita T; Imawaka M; Ueda K; Ohtsuka H; Sakai K; Aihara T; Kato K; Sugimoto M; Ueno S; Nishizawa Y; Aguirre GD; Miyadera K
    PLoS One; 2015; 10(9):e0137072. PubMed ID: 26368928
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.
    Jacobi FK; Andréasson S; Langrova H; Meindl A; Zrenner E; Apfelstedt-Sylla E; Pusch CM
    Graefes Arch Clin Exp Ophthalmol; 2002 Oct; 240(10):822-8. PubMed ID: 12397430
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Macular sensitivity in patients with congenital stationary night-blindness.
    William A; Kohl S; Zeitz C; Willmann G; Zrenner E; Bartz-Schmidt KU; Gekeler F; Schatz A
    Br J Ophthalmol; 2019 Oct; 103(10):1507-1510. PubMed ID: 30573500
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Electroretinographic findings in a patient with congenital stationary night blindness due to a novel NYX mutation.
    McAnany JJ; Alexander KR; Kumar NM; Ying H; Anastasakis A; Fishman GA
    Ophthalmic Genet; 2013 Sep; 34(3):167-73. PubMed ID: 23289809
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy.
    Pasutto F; Ekici A; Reis A; Kremers J; Huchzermeyer C
    Ophthalmic Genet; 2018 Dec; 39(6):741-748. PubMed ID: 30260717
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Clinical and genetic characterization of a Chinese family with CSNB1.
    Sui R; Li F; Zhao J; Jiang R
    Adv Exp Med Biol; 2008; 613():245-52. PubMed ID: 18188951
    [No Abstract]   [Full Text] [Related]  

  • 16. Next-generation sequencing confirms the implication of SLC24A1 in autosomal-recessive congenital stationary night blindness.
    Neuillé M; Malaichamy S; Vadalà M; Michiels C; Condroyer C; Sachidanandam R; Srilekha S; Arokiasamy T; Letexier M; Démontant V; Sahel JA; Sen P; Audo I; Soumittra N; Zeitz C
    Clin Genet; 2016 Jun; 89(6):690-9. PubMed ID: 26822852
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Behavioral phenotypic properties of a natural occurring rat model of congenital stationary night blindness with Cacna1f mutation.
    An J; Wang L; Guo Q; Li L; Xia F; Zhang Z
    J Neurogenet; 2012 Sep; 26(3-4):363-73. PubMed ID: 22800190
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene.
    Sergouniotis PI; Robson AG; Li Z; Devery S; Holder GE; Moore AT; Webster AR
    Acta Ophthalmol; 2012 May; 90(3):e192-7. PubMed ID: 22008250
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
    Audo I; Bujakowska K; Orhan E; Poloschek CM; Defoort-Dhellemmes S; Drumare I; Kohl S; Luu TD; Lecompte O; Zrenner E; Lancelot ME; Antonio A; Germain A; Michiels C; Audier C; Letexier M; Saraiva JP; Leroy BP; Munier FL; Mohand-Saïd S; Lorenz B; Friedburg C; Preising M; Kellner U; Renner AB; Moskova-Doumanova V; Berger W; Wissinger B; Hamel CP; Schorderet DF; De Baere E; Sharon D; Banin E; Jacobson SG; Bonneau D; Zanlonghi X; Le Meur G; Casteels I; Koenekoop R; Long VW; Meire F; Prescott K; de Ravel T; Simmons I; Nguyen H; Dollfus H; Poch O; Léveillard T; Nguyen-Ba-Charvet K; Sahel JA; Bhattacharya SS; Zeitz C
    Am J Hum Genet; 2012 Feb; 90(2):321-30. PubMed ID: 22325361
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.
    Hove MN; Kilic-Biyik KZ; Trotter A; Grønskov K; Sander B; Larsen M; Carroll J; Bech-Hansen T; Rosenberg T
    Invest Ophthalmol Vis Sci; 2016 Dec; 57(15):6861-6869. PubMed ID: 28002560
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.