Literature DB >> 15923518

Homozygous mutation (L527R) of TGFBI in an individual with lattice corneal dystrophy.

N Yamada, T-I Chikama, N Morishige, R Yanai, T Nishida, M Inui, K Seki.   

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Year:  2005        PMID： 15923518      PMCID： PMC1772697          DOI： 10.1136/bjo.2004.056168

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN： 0007-1161            Impact factor:   4.638


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  12 in total

1.  Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan.

Authors:  Y Mashima; S Yamamoto; Y Inoue; M Yamada; M Konishi; H Watanabe; N Maeda; Y Shimomura; S Kinoshita
Journal:  Am J Ophthalmol       Date:  2000-10       Impact factor: 5.258

2.  A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA.

Authors:  P Dighiero; S Drunat; P Ellies; F D'Hermies; M Savoldelli; J M Legeais; G Renard; M Delpech; G Grateau; S Valleix
Journal:  Am J Ophthalmol       Date:  2000-02       Impact factor: 5.258

3.  Homozygotic patient with betaig-h3 gene mutation in granular dystrophy.

Authors:  K Fujiki; Y Hotta; K Nakayasu; A Kanai
Journal:  Cornea       Date:  1998-05       Impact factor: 2.651

4.  Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene.

Authors:  K Hirano; Y Hotta; M Nakamura; K Fujiki; A Kanai; N Yamamoto
Journal:  Cornea       Date:  2001-07       Impact factor: 2.651

5.  Different recurrence patterns after phototherapeutic keratectomy in the corneal dystrophy resulting from homozygous and heterozygous R124H BIG-H3 mutation.

Authors:  T Inoue; H Watanabe; S Yamamoto; Y Inoue; M Okada; Y Hori; N Maeda; Y Inoue; K Hayashi; Y Shimomura; Y Tano
Journal:  Am J Ophthalmol       Date:  2001-08       Impact factor: 5.258

6.  A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA.

Authors:  S Yamamoto; M Okada; M Tsujikawa; Y Shimomura; K Nishida; Y Inoue; H Watanabe; N Maeda; H Kurahashi; S Kinoshita; Y Nakamura; Y Tano
Journal:  Am J Hum Genet       Date:  1998-03       Impact factor: 11.025

7.  BIGH3 mutation spectrum in corneal dystrophies.

Authors:  Francis L Munier; Beatrice E Frueh; Philippe Othenin-Girard; Sylvie Uffer; Pascal Cousin; Ming X Wang; Elise Héon; Graeme C M Black; Maria A Blasi; Emilio Balestrazzi; Birgit Lorenz; Rafael Escoto; Rafael Barraquer; Maria Hoeltzenbein; Balder Gloor; Maurizio Fossarello; Arun D Singh; Yvan Arsenijevic; Léonidas Zografos; Daniel F Schorderet
Journal:  Invest Ophthalmol Vis Sci       Date:  2002-04       Impact factor: 4.799

8.  Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene.

Authors:  M Okada; S Yamamoto; H Watanabe; Y Inoue; M Tsujikawa; N Maeda; Y Shimomura; K Nishida; S Kinoshita; Y Tano
Journal:  Am J Ophthalmol       Date:  1998-08       Impact factor: 5.258

9.  Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations.

Authors:  M Okada; S Yamamoto; Y Inoue; H Watanabe; N Maeda; Y Shimomura; Y Ishii; Y Tano
Journal:  Invest Ophthalmol Vis Sci       Date:  1998-09       Impact factor: 4.799

10.  Severe form of juvenile corneal stromal dystrophy with homozygous R124H mutation in the keratoepithelin gene in five Japanese patients.

Authors:  Y Mashima; M Konishi; Y Nakamura; Y Imamura; M Yamada; T Ogata; J Kudoh; N Shimizu
Journal:  Br J Ophthalmol       Date:  1998-11       Impact factor: 4.638
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  2 in total

1.  A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.

Authors:  Anthony J Aldave; Vivek S Yellore; Baris Sonmez; Nirit Bourla; Andrew K Salem; M Ali Khan; Sylvia A Rayner; Ben J Glasgow
Journal:  Arch Ophthalmol       Date:  2008-03

Review 2.  The IC3D classification of the corneal dystrophies.

Authors:  Jayne S Weiss; H U Møller; Walter Lisch; Shigeru Kinoshita; Anthony J Aldave; Michael W Belin; Tero Kivelä; Massimo Busin; Francis L Munier; Berthold Seitz; John Sutphin; Cecilie Bredrup; Mark J Mannis; Christopher J Rapuano; Gabriel Van Rij; Eung Kweon Kim; Gordon K Klintworth
Journal:  Cornea       Date:  2008-12       Impact factor: 2.651
  2 in total

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