Literature DB >> 17179126

Keratoconus associated with CSNB1.

D Q Nguyen, C Hemmerdinger, R P Hagan, M C Brown, S A Quah, S B Kaye.   

Abstract

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Year:  2007        PMID： 17179126      PMCID： PMC1857568          DOI： 10.1136/bjo.2006.097527

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


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  9 in total

Review 1.  The biology of the small leucine-rich proteoglycans. Functional network of interactive proteins.

Authors:  R V Iozzo
Journal:  J Biol Chem       Date:  1999-07-02       Impact factor: 5.157

Review 2.  The genetics of keratoconus.

Authors:  Yaron S Rabinowitz
Journal:  Ophthalmol Clin North Am       Date:  2003-12

3.  Congenital stationary night blindness with negative electroretinogram. A new classification.

Authors:  Y Miyake; K Yagasaki; M Horiguchi; Y Kawase; T Kanda
Journal:  Arch Ophthalmol       Date:  1986-07

4.  A 48-year clinical and epidemiologic study of keratoconus.

Authors:  R H Kennedy; W M Bourne; J A Dyer
Journal:  Am J Ophthalmol       Date:  1986-03-15       Impact factor: 5.258

5.  The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.

Authors:  C M Pusch; C Zeitz; O Brandau; K Pesch; H Achatz; S Feil; C Scharfe; J Maurer; F K Jacobi; A Pinckers; S Andreasson; A Hardcastle; B Wissinger; W Berger; A Meindl
Journal:  Nat Genet       Date:  2000-11       Impact factor: 38.330

6.  Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Authors:  N T Bech-Hansen; M J Naylor; T A Maybaum; R L Sparkes; B Koop; D G Birch; A A Bergen; C F Prinsen; R C Polomeno; A Gal; A V Drack; M A Musarella; S G Jacobson; R S Young; R G Weleber
Journal:  Nat Genet       Date:  2000-11       Impact factor: 38.330

7.  VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation.

Authors:  Luigi Bisceglia; Marilena Ciaschetti; Patrizia De Bonis; Pablo Alberto Perafan Campo; Costantina Pizzicoli; Costanza Scala; Michele Grifa; Pio Ciavarella; Nicola Delle Noci; Filippo Vaira; Claudio Macaluso; Leopoldo Zelante
Journal:  Invest Ophthalmol Vis Sci       Date:  2005-01       Impact factor: 4.799

8.  VSX1: a gene for posterior polymorphous dystrophy and keratoconus.

Authors:  Elise Héon; Alex Greenberg; Kelly K Kopp; David Rootman; Andrea L Vincent; Gail Billingsley; Megan Priston; Kimberley M Dorval; Robert L Chow; Roderick R McInnes; Godfrey Heathcote; Carol Westall; John E Sutphin; Elena Semina; Rod Bremner; Edwin M Stone
Journal:  Hum Mol Genet       Date:  2002-05-01       Impact factor: 6.150

9.  NYX (nyctalopin on chromosome X), the gene mutated in congenital stationary night blindness, encodes a cell surface protein.

Authors:  Christina Zeitz; Harry Scherthan; Susanne Freier; Silke Feil; Vanessa Suckow; Susann Schweiger; Wolfgang Berger
Journal:  Invest Ophthalmol Vis Sci       Date:  2003-10       Impact factor: 4.799
  9 in total

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