Literature DB >> 17322467

The enhanced S-cone syndrome in children.

Arif O Khan, Mohammed Aldahmesh, Brian Meyer.   

Abstract

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Year:  2007        PMID： 17322467      PMCID： PMC1857689          DOI： 10.1136/bjo.2006.097956

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


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  6 in total

1.  Giving in to the blues.

Authors:  C Cepko
Journal:  Nat Genet       Date:  2000-02       Impact factor: 38.330

2.  Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

Authors:  N B Haider; S G Jacobson; A V Cideciyan; R Swiderski; L M Streb; C Searby; G Beck; R Hockey; D B Hanna; S Gorman; D Duhl; R Carmi; J Bennett; R G Weleber; G A Fishman; A F Wright; E M Stone; V C Sheffield
Journal:  Nat Genet       Date:  2000-02       Impact factor: 38.330

3.  Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.

Authors:  Koji M Nishiguchi; James S Friedman; Michael A Sandberg; Anand Swaroop; Eliot L Berson; Thaddeus P Dryja
Journal:  Proc Natl Acad Sci U S A       Date:  2004-12-09       Impact factor: 11.205

4.  Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice.

Authors:  N B Haider; J K Naggert; P M Nishina
Journal:  Hum Mol Genet       Date:  2001-08-01       Impact factor: 6.150

5.  Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

Authors:  Alan F Wright; Adam C Reddick; Sharon B Schwartz; Julie S Ferguson; Tomas S Aleman; Ulrich Kellner; Bernhard Jurklies; Andreas Schuster; Eberhart Zrenner; Bernd Wissinger; Alan Lennon; Xinhua Shu; Artur V Cideciyan; Edwin M Stone; Samuel G Jacobson; Anand Swaroop
Journal:  Hum Mutat       Date:  2004-11       Impact factor: 4.878

6.  Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.

Authors:  Dror Sharon; Michael A Sandberg; Rafael C Caruso; Eliot L Berson; Thaddeus P Dryja
Journal:  Arch Ophthalmol       Date:  2003-09
  6 in total
  4 in total

1.  Two-color pupillometry in enhanced S-cone syndrome caused by NR2E3 mutations.

Authors:  Frederick T Collison; Jason C Park; Gerald A Fishman; Edwin M Stone; J Jason McAnany
Journal:  Doc Ophthalmol       Date:  2016-03-31       Impact factor: 2.379

2.  Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.

Authors:  Vittoria Murro; Dario Pasquale Mucciolo; Andrea Sodi; Ilaria Passerini; Dario Giorgio; Gianni Virgili; Stanislao Rizzo
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2018-10-15       Impact factor: 3.117

3.  Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene.

Authors:  N-K Wang; H F Fine; S Chang; C L Chou; W Cella; J Tosi; C-S Lin; T Nagasaki; S H Tsang
Journal:  Br J Ophthalmol       Date:  2009-05-07       Impact factor: 4.638

4.  Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Authors:  Christine Neuhaus; Tobias Eisenberger; Christian Decker; Sandra Nagl; Cornelia Blank; Markus Pfister; Ingo Kennerknecht; Cornelie Müller-Hofstede; Peter Charbel Issa; Raoul Heller; Bodo Beck; Klaus Rüther; Diana Mitter; Klaus Rohrschneider; Ute Steinhauer; Heike M Korbmacher; Dagmar Huhle; Solaf M Elsayed; Hesham M Taha; Shahid M Baig; Heidi Stöhr; Markus Preising; Susanne Markus; Fabian Moeller; Birgit Lorenz; Kerstin Nagel-Wolfrum; Arif O Khan; Hanno J Bolz
Journal:  Mol Genet Genomic Med       Date:  2017-07-06       Impact factor: 2.183
  4 in total

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