Literature DB >> 13190865

[Diagnostic and prognostic importance of the electroretinogram in tapetoretinal degeneration with reduction of the visual field and hemeralopia].

A FRANCESCHETTI, P DIETERLE.   

Abstract

Entities:  

Keywords:  DAY BLINDNESS; RETINA/physiology; VISION

Mesh:

Year:  1954        PMID: 13190865

Source DB:  PubMed          Journal:  Confin Neurol        ISSN: 0010-5678


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  34 in total

1.  [The electroretinogram in retinitis pigmentosa after stimulation with light of high intensity].

Authors:  W LEHNERT
Journal:  Albrecht Von Graefes Arch Ophthalmol       Date:  1963

Review 2.  Gene therapy for Leber congenital amaurosis: advances and future directions.

Authors:  Robert B Hufnagel; Zubair M Ahmed; Zélia M Corrêa; Robert A Sisk
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2012-05-29       Impact factor: 3.117

3.  A novel locus for Leber congenital amaurosis maps to chromosome 6q.

Authors:  S Dharmaraj; Y Li; J M Robitaille; E Silva; D Zhu; T N Mitchell; L P Maltby; A B Baffoe-Bonnie; I H Maumenee
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

Review 4.  CRB1 mutations in inherited retinal dystrophies.

Authors:  Kinga Bujakowska; Isabelle Audo; Saddek Mohand-Saïd; Marie-Elise Lancelot; Aline Antonio; Aurore Germain; Thierry Léveillard; Mélanie Letexier; Jean-Paul Saraiva; Christine Lonjou; Wassila Carpentier; José-Alain Sahel; Shomi S Bhattacharya; Christina Zeitz
Journal:  Hum Mutat       Date:  2011-12-27       Impact factor: 4.878

Review 5.  Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanisms.

Authors:  Paulo A Ferreira
Journal:  Hum Mol Genet       Date:  2005-10-15       Impact factor: 6.150

6.  Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.

Authors:  Hui Wang; Xia Wang; Xuan Zou; Shan Xu; Hui Li; Zachry Tore Soens; Keqing Wang; Yumei Li; Fangtian Dong; Rui Chen; Ruifang Sui
Journal:  Invest Ophthalmol Vis Sci       Date:  2015-06       Impact factor: 4.799

7.  A null mutation in the photoreceptor guanylate cyclase gene causes the retinal degeneration chicken phenotype.

Authors:  S L Semple-Rowland; N R Lee; J P Van Hooser; K Palczewski; W Baehr
Journal:  Proc Natl Acad Sci U S A       Date:  1998-02-03       Impact factor: 11.205

8.  Whole exome sequencing identifies CRB1 defect in an unusual maculopathy phenotype.

Authors:  Stephen H Tsang; Tomas Burke; Maris Oll; Suzanne Yzer; Winston Lee; Yajing Angela Xie; Rando Allikmets
Journal:  Ophthalmology       Date:  2014-05-06       Impact factor: 12.079

9.  Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.

Authors:  A Camuzat; J M Rozet; H Dollfus; S Gerber; I Perrault; J Weissenbach; A Munnich; J Kaplan
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

10.  Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.

Authors:  Erwin van Wijk; Ferry F J Kersten; Aileen Kartono; Dorus A Mans; Kim Brandwijk; Stef J F Letteboer; Theo A Peters; Tina Märker; Xiumin Yan; Cor W R J Cremers; Frans P M Cremers; Uwe Wolfrum; Ronald Roepman; Hannie Kremer
Journal:  Hum Mol Genet       Date:  2008-09-30       Impact factor: 6.150

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