Literature DB >> 16574971

Genetics of inherited retinal disease.

Peter J Francis1.   

Abstract

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Mesh：

Year:  2006        PMID： 16574971      PMCID： PMC1420779          DOI： 10.1177/014107680609900417

Source DB:  PubMed          Journal:  J R Soc Med        ISSN： 0141-0768            Impact factor:   18.000


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  9 in total

1.  Genetic influence on early age-related maculopathy: a twin study.

Authors:  Christopher J Hammond; Andrew R Webster; Harold Snieder; Alan C Bird; Clare E Gilbert; Tim D Spector
Journal:  Ophthalmology       Date:  2002-04       Impact factor: 12.079

Review 2.  Retinal neuroprotection by growth factors: a mechanistic perspective.

Authors:  Edward Chaum
Journal:  J Cell Biochem       Date:  2003-01-01       Impact factor: 4.429

Review 3.  Retinal transplantation: progress and problems in clinical application.

Authors:  R D Lund; S J Ono; D J Keegan; J M Lawrence
Journal:  J Leukoc Biol       Date:  2003-08       Impact factor: 4.962

Review 4.  Inherited retinal degenerations: therapeutic prospects.

Authors:  Marie-Noëlle Delyfer; Thierry Léveillard; Saddek Mohand-Saïd; David Hicks; Serge Picaud; José-Alain Sahel
Journal:  Biol Cell       Date:  2004-05       Impact factor: 4.458

Review 5.  The genetics of inherited macular dystrophies.

Authors:  M Michaelides; D M Hunt; A T Moore
Journal:  J Med Genet       Date:  2003-09       Impact factor: 6.318

Review 6.  The retina implant--new approach to a visual prosthesis.

Authors:  N Alteheld; G Roessler; M Vobig; P Walter
Journal:  Biomed Tech (Berl)       Date:  2004-04       Impact factor: 1.411

Review 7.  An overview of Leber congenital amaurosis: a model to understand human retinal development.

Authors:  Robert K Koenekoop
Journal:  Surv Ophthalmol       Date:  2004 Jul-Aug       Impact factor: 6.048

Review 8.  Genetics of age-related macular degeneration.

Authors:  Michael L Klein; Peter J Francis
Journal:  Ophthalmol Clin North Am       Date:  2003-12

Review 9.  Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations.

Authors:  Laura R Pacione; Michael J Szego; Sakae Ikeda; Patsy M Nishina; Roderick R McInnes
Journal:  Annu Rev Neurosci       Date:  2003       Impact factor: 12.449
  9 in total
  13 in total

1.  Patient expectations and attitudes towards specialist genetic eye services.

Authors:  E Clarke; R Combs; G Black; G Hall
Journal:  J Genet Couns       Date:  2014-10-03       Impact factor: 2.537

Review 2.  Complement factor H in AMD: Bridging genetic associations and pathobiology.

Authors:  Christopher B Toomey; Lincoln V Johnson; Catherine Bowes Rickman
Journal:  Prog Retin Eye Res       Date:  2017-09-18       Impact factor: 21.198

3.  Deep learning for the segmentation of preserved photoreceptors on en face optical coherence tomography in two inherited retinal diseases.

Authors:  Acner Camino; Zhuo Wang; Jie Wang; Mark E Pennesi; Paul Yang; David Huang; Dengwang Li; Yali Jia
Journal:  Biomed Opt Express       Date:  2018-06-12       Impact factor: 3.732

Review 4.  Genome Surgery and Gene Therapy in Retinal Disorders.

Authors:  Lawrence Chan; Vinit B Mahajan; Stephen H Tsang
Journal:  Yale J Biol Med       Date:  2017-12-19

5.  Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.

Authors:  Galuh D N Astuti; L Ingeborgh van den Born; M Imran Khan; Christian P Hamel; Béatrice Bocquet; Gaël Manes; Mathieu Quinodoz; Manir Ali; Carmel Toomes; Martin McKibbin; Mohammed E El-Asrag; Lonneke Haer-Wigman; Chris F Inglehearn; Graeme C M Black; Carel B Hoyng; Frans P M Cremers; Susanne Roosing
Journal:  Genes (Basel)       Date:  2018-01-10       Impact factor: 4.096

6.  GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies.

Authors:  Zaina Bouzia; Michalis Georgiou; Sarah Hull; Anthony G Robson; Kaoru Fujinami; Tryfon Rotsos; Nikolas Pontikos; Gavin Arno; Andrew R Webster; Alison J Hardcastle; Alessia Fiorentino; Michel Michaelides
Journal:  Am J Ophthalmol       Date:  2019-11-05       Impact factor: 5.258

7.  Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Authors:  Juan C Zenteno; Leopoldo A García-Montaño; Marisa Cruz-Aguilar; Josué Ronquillo; Agustín Rodas-Serrano; Luis Aguilar-Castul; Rodrigo Matsui; Carlos I Vencedor-Meraz; Rocío Arce-González; Federico Graue-Wiechers; Mario Gutiérrez-Paz; Tatiana Urrea-Victoria; Ulises de Dios Cuadras; Oscar F Chacón-Camacho
Journal:  Mol Genet Genomic Med       Date:  2019-11-17       Impact factor: 2.183

Review 8.  Recombinant Adeno-Associated Viral Vectors (rAAV)-Vector Elements in Ocular Gene Therapy Clinical Trials and Transgene Expression and Bioactivity Assays.

Authors:  Thilo M Buck; Jan Wijnholds
Journal:  Int J Mol Sci       Date:  2020-06-12       Impact factor: 5.923

9.  The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa.

Authors:  Nicole Midgley; Lisa Roberts; George Rebello; Raj Ramesar
Journal:  Mol Vis       Date:  2020-08-23       Impact factor: 2.367

10.  Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes.

Authors:  Lama Jaffal; Wissam H Joumaa; Alexandre Assi; Charles Helou; George Cherfan; Kazem Zibara; Isabelle Audo; Christina Zeitz; Said El Shamieh
Journal:  Genes (Basel)       Date:  2019-12-16       Impact factor: 4.096
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