Literature DB >> 24029832

Novel compound heterozygous mutations resulting in cone dystrophy with supernormal rod response.

Tamara Lee Lenis1, Elona Dhrami-Gavazi, Winston Lee, Sri Krishna Mukkamala, Mirela Raluca Tabacaru, Lawrence Yannuzzi, Peter Gouras, Stephen H Tsang.   

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Year:  2013        PMID： 24029832      PMCID： PMC4377131          DOI： 10.1001/jamaophthalmol.2013.4681

Source DB:  PubMed          Journal:  JAMA Ophthalmol        ISSN： 2168-6165            Impact factor:   7.389


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  6 in total

1.  A detailed phenotypic study of "cone dystrophy with supernormal rod ERG".

Authors:  M Michaelides; G E Holder; A R Webster; D M Hunt; A C Bird; F W Fitzke; J D Mollon; A T Moore
Journal:  Br J Ophthalmol       Date:  2005-03       Impact factor: 4.638

2.  Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.

Authors:  Bernd Wissinger; Simone Schaich; Britta Baumann; Michael Bonin; Herbert Jägle; Christoph Friedburg; Balázs Varsányi; Carel B Hoyng; Hélène Dollfus; John R Heckenlively; Thomas Rosenberg; Günter Rudolph; Ulrich Kellner; Roberto Salati; Astrid Plomp; Elfride De Baere; Monika Andrassi-Darida; Alexandra Sauer; Christiane Wolf; Ditta Zobor; Antje Bernd; Bart P Leroy; Péter Enyedi; Frans P M Cremers; Birgit Lorenz; Eberhart Zrenner; Susanne Kohl
Journal:  Hum Mutat       Date:  2011-09-12       Impact factor: 4.878

3.  Cone dystrophy, nyctalopia, and supernormal rod responses. A new retinal degeneration.

Authors:  P Gouras; H M Eggers; C J MacKay
Journal:  Arch Ophthalmol       Date:  1983-05

4.  "Cone dystrophy with supernormal rod electroretinogram": a comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology.

Authors:  Anthony G Robson; Andrew R Webster; Michel Michaelides; Susan M Downes; Jill A Cowing; David M Hunt; Anthony T Moore; Graham E Holder
Journal:  Retina       Date:  2010-01       Impact factor: 4.256

5.  Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

Authors:  Bernd Wissinger; Susann Dangel; Herbert Jägle; Lars Hansen; Britta Baumann; Günther Rudolph; Christiane Wolf; Michael Bonin; Katja Koeppen; Thomas Ladewig; Susanne Kohl; Eberhart Zrenner; Thomas Rosenberg
Journal:  Invest Ophthalmol Vis Sci       Date:  2008-02       Impact factor: 4.799

6.  Functional analysis of missense mutations in Kv8.2 causing cone dystrophy with supernormal rod electroretinogram.

Authors:  Katie E Smith; Susan E Wilkie; Joseph T Tebbs-Warner; Bradley J Jarvis; Linn Gallasch; Martin Stocker; David M Hunt
Journal:  J Biol Chem       Date:  2012-10-31       Impact factor: 5.157
  6 in total
  5 in total

1.  KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.

Authors:  Michalis Georgiou; Anthony G Robson; Kaoru Fujinami; Shaun M Leo; Ajoy Vincent; Fadi Nasser; Thales Antônio Cabral De Guimarães; Samer Khateb; Nikolas Pontikos; Yu Fujinami-Yokokawa; Xiao Liu; Kazushige Tsunoda; Takaaki Hayashi; Mauricio E Vargas; Alberta A H J Thiadens; Emanuel R de Carvalho; Xuan-Thanh-An Nguyen; Gavin Arno; Omar A Mahroo; Maria Inmaculada Martin-Merida; Belen Jimenez-Rolando; Gema Gordo; Ester Carreño; Ayuso Carmen; Dror Sharon; Susanne Kohl; Rachel M Huckfeldt; Bernd Wissinger; Camiel J F Boon; Eyal Banin; Mark E Pennesi; Arif O Khan; Andrew R Webster; Eberhart Zrenner; Elise Héon; Michel Michaelides
Journal:  Am J Ophthalmol       Date:  2020-12-11       Impact factor: 5.258

Review 2.  KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy.

Authors:  Thales A C De Guimaraes; Michalis Georgiou; Anthony G Robson; Michel Michaelides
Journal:  Ophthalmic Genet       Date:  2020-05-22       Impact factor: 1.803

3.  Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.

Authors:  Zhouxian Bai; Yanchuan Xie; Lina Liu; Jingzhi Shao; Yuying Liu; Xiangdong Kong
Journal:  BMC Med Genomics       Date:  2021-03-29       Impact factor: 3.063

4.  Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese family.

Authors:  Man Liu; Yingchuan Zhu; Lian Huang; Wenhao Jiang; Na Wu; Yue Song; Yilu Lu; Yongxin Ma
Journal:  Mol Genet Genomic Med       Date:  2021-09-18       Impact factor: 2.183

5.  KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints-KCNV2 Study Group Report 2.

Authors:  Michalis Georgiou; Kaoru Fujinami; Ajoy Vincent; Fadi Nasser; Samer Khateb; Mauricio E Vargas; Alberta A H J Thiadens; Emanuel R de Carvalho; Xuan-Thanh-An Nguyen; Thales Antônio Cabral De Guimarães; Anthony G Robson; Omar A Mahroo; Nikolas Pontikos; Gavin Arno; Yu Fujinami-Yokokawa; Shaun Michael Leo; Xiao Liu; Kazushige Tsunoda; Takaaki Hayashi; Belen Jimenez-Rolando; Maria Inmaculada Martin-Merida; Almudena Avila-Fernandez; Ester Carreño; Blanca Garcia-Sandoval; Carmen Ayuso; Dror Sharon; Susanne Kohl; Rachel M Huckfeldt; Camiel J F Boon; Eyal Banin; Mark E Pennesi; Bernd Wissinger; Andrew R Webster; Elise Héon; Arif O Khan; Eberhart Zrenner; Michel Michaelides
Journal:  Am J Ophthalmol       Date:  2021-03-15       Impact factor: 5.258
  5 in total

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