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 *

131 related articles for article (PubMed ID: 12036680)

  • 1. Two brothers with gelatinous drop-like dystrophy at different stages of the disease: role of mutational analysis.
    Yoshida S; Kumano Y; Yoshida A; Numa S; Yabe N; Hisatomi T; Nishida T; Ishibashi T; Matsui T
    Am J Ophthalmol; 2002 Jun; 133(6):830-2. PubMed ID: 12036680
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy.
    Ha NT; Fujiki K; Hotta Y; Nakayasu K; Kanai A
    Am J Ophthalmol; 2000 Jul; 130(1):119-20. PubMed ID: 11004271
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Gelatinous drop-like corneal dystrophy is not one of the beta ig-h3-mutated corneal amyloidoses.
    Dota A; Nishida K; Honma Y; Adachi W; Kawasaki S; Quantock AJ; Kinoshita S
    Am J Ophthalmol; 1998 Dec; 126(6):832-3. PubMed ID: 9860011
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Rapid detection of M1S1 mutations by the protein truncation test.
    Tsujikawa M; Tsujikawa K; Maeda N; Watanabe H; Inoue Y; Mashima Y; Shimomura Y; Tano Y
    Invest Ophthalmol Vis Sci; 2000 Aug; 41(9):2466-8. PubMed ID: 10937555
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Gelatinous drop-like corneal dystrophy with a novel mutation of TACSTD2 manifested in combination with spheroidal degeneration in a Chinese patient.
    Zhang B; Yao YF
    Mol Vis; 2010 Aug; 16():1570-5. PubMed ID: 20806038
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Compound heterozygous mutations of M1S1 gene in gelatinous droplike corneal dystrophy.
    Tian X; Fujiki K; Li Q; Murakami A; Xie P; Kanai A; Wang W; Liu Z
    Am J Ophthalmol; 2004 Mar; 137(3):567-9. PubMed ID: 15013888
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A missense mutation in the M1S1 gene found in a turkish patient with gelatinous droplike corneal dystrophy.
    Yildirim N; Muslumanoglu H; Isiksoy S; Sahin A; Baycu C; Artan S
    Cornea; 2007 Sep; 26(8):1017-20. PubMed ID: 17721311
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Gelatino-lattice corneal dystrophy: clinical features and mutational analysis.
    Nakamura T; Nishida K; Dota A; Adachi W; Yamamoto S; Maeda N; Okada M; Kinoshita S
    Am J Ophthalmol; 2000 May; 129(5):665-6. PubMed ID: 10844062
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene.
    Akhtar S; Bron AJ; Qin X; Creer RC; Guggenheim JA; Meek KM
    Eye (Lond); 2005 Feb; 19(2):198-204. PubMed ID: 15254496
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy.
    Ren Z; Lin PY; Klintworth GK; Iwata F; Munier FL; Schorderet DF; El Matri L; Theendakara V; Basti S; Reddy M; Hejtmancik JF
    Hum Genet; 2002 Jun; 110(6):568-77. PubMed ID: 12107443
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Gelatinous drop-like corneal dystrophy: mutation analysis of membrane component, chromosome 1, surface marker 1].
    Yajima T; Fujiki K; Murakami A; Nakayasu K
    Nippon Ganka Gakkai Zasshi; 2002 May; 106(5):265-72. PubMed ID: 12048921
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A case of one eye with gelatinous drop-like corneal dystrophy and the other eye with band-shaped spheroidal corneal degeneration.
    Akiya S; Takahashi H; Furukawa H; Hamada T; Sugahara S; Suzuki T; Ninomiya H; Yoshimura M; Shimazaki J; Tsubota K
    Ophthalmologica; 1995; 209(2):96-100. PubMed ID: 7746654
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel mutation in the M1S1 gene responsible for gelatinous droplike corneal dystrophy.
    Tasa G; Kals J; Muru K; Juronen E; Piirsoo A; Veromann S; Jänes S; Mikelsaar AV; Lang A
    Invest Ophthalmol Vis Sci; 2001 Nov; 42(12):2762-4. PubMed ID: 11687514
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Corneal dystrophies in Japan.
    Fujiki K; Nakayasu K; Kanai A
    J Hum Genet; 2001; 46(8):431-5. PubMed ID: 11501939
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of the gene responsible for gelatinous drop-like corneal dystrophy.
    Tsujikawa M; Kurahashi H; Tanaka T; Nishida K; Shimomura Y; Tano Y; Nakamura Y
    Nat Genet; 1999 Apr; 21(4):420-3. PubMed ID: 10192395
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in the membrane component, chromosome 1, surface marker 1 (M1S1) gene in gelatinous drop-like corneal dystrophy.
    Murakami A; Kimura S; Fujiki K; Fujimaki T; Kanai A
    Jpn J Ophthalmol; 2004; 48(4):317-20. PubMed ID: 15295654
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene.
    Konishi M; Yamada M; Nakamura Y; Mashima Y
    Cornea; 1999 Jul; 18(4):424-9. PubMed ID: 10422854
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.
    Jing Y; Liu C; Wang L
    Mol Vis; 2009 Aug; 15():1580-8. PubMed ID: 19693293
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Current advances in gene diagnosis and therapy of gelatinous drop-like corneal dystrophy].
    Huo YN; Yao YF
    Zhejiang Da Xue Xue Bao Yi Xue Ban; 2006 Mar; 35(2):228-32. PubMed ID: 16610095
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel mutation of M1S1 gene found in a Vietnamese patient with gelatinous droplike corneal dystrophy.
    Ha NT; Chau HM; Cung le X; Thanh TK; Fujiki K; Murakami A; Kanai A
    Am J Ophthalmol; 2003 Mar; 135(3):390-3. PubMed ID: 12614764
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.