Literature DB >> 24489377

A novel RPGR mutation masquerading as Stargardt disease.

Alexander G Bassuk1, Tharikarn Sujirakul, Stephen H Tsang, Vinit B Mahajan.   

Abstract

Entities:  

Keywords:  Genetics; Retina; Treatment other

Mesh：

Substances：

Year:  2014        PMID： 24489377      PMCID： PMC4170590          DOI： 10.1136/bjophthalmol-2013-304822

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


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  5 in total

1.  Analysis of the ABCA4 gene by next-generation sequencing.

Authors:  Jana Zernant; Carl Schubert; Kate M Im; Tomas Burke; Carolyn M Brown; Gerald A Fishman; Stephen H Tsang; Peter Gouras; Michael Dean; Rando Allikmets
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-10-31       Impact factor: 4.799

2.  Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.

Authors:  Sung Pyo Park; In Hwan Hong; Stephen H Tsang; Stanley Chang
Journal:  Eur J Hum Genet       Date:  2013-02-27       Impact factor: 4.246

3.  Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

Authors:  Kari Branham; Mohammad Othman; Matthew Brumm; Athanasios J Karoukis; Pelin Atmaca-Sonmez; Beverly M Yashar; Sharon B Schwartz; Niamh B Stover; Karmen Trzupek; Dianna Wheaton; Barbara Jennings; Maria Laura Ciccarelli; K Thiran Jayasundera; Richard A Lewis; David Birch; Jean Bennett; Paul A Sieving; Sten Andreasson; Jacque L Duncan; Gerald A Fishman; Alessandro Iannaccone; Richard G Weleber; Samuel G Jacobson; John R Heckenlively; Anand Swaroop
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-12-13       Impact factor: 4.799

4.  Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa.

Authors:  Jennifer H Acton; Jonathan P Greenberg; Vivienne C Greenstein; Marcela Marsiglia; Mirela Tabacaru; R Theodore Smith; Stephen H Tsang
Journal:  Exp Eye Res       Date:  2013-05-10       Impact factor: 3.467

5.  Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.

Authors:  Isabelle Audo; Kinga M Bujakowska; Thierry Léveillard; Saddek Mohand-Saïd; Marie-Elise Lancelot; Aurore Germain; Aline Antonio; Christelle Michiels; Jean-Paul Saraiva; Mélanie Letexier; José-Alain Sahel; Shomi S Bhattacharya; Christina Zeitz
Journal:  Orphanet J Rare Dis       Date:  2012-01-25       Impact factor: 4.123
  5 in total
  9 in total

1.  MULTIMODAL IMAGING OF DISEASE-ASSOCIATED PIGMENTARY CHANGES IN RETINITIS PIGMENTOSA.

Authors:  Kaspar Schuerch; Marcela Marsiglia; Winston Lee; Stephen H Tsang; Janet R Sparrow
Journal:  Retina       Date:  2016-12       Impact factor: 4.256

Review 2.  Lessons learned from quantitative fundus autofluorescence.

Authors:  Janet R Sparrow; Tobias Duncker; Kaspar Schuerch; Maarjaliis Paavo; Jose Ronaldo Lima de Carvalho
Journal:  Prog Retin Eye Res       Date:  2019-08-28       Impact factor: 21.198

3.  Quantitative autofluorescence as a clinical tool for expedited differential diagnosis of retinal degeneration.

Authors:  Marcela Marsiglia; Winston Lee; Vinit B Mahajan; Jana Zernant; François C Delori; Stephen H Tsang; Janet R Sparrow
Journal:  JAMA Ophthalmol       Date:  2015-02       Impact factor: 7.389

4.  BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.

Authors:  Yasmin Moshfegh; Gabriel Velez; Yao Li; Alexander G Bassuk; Vinit B Mahajan; Stephen H Tsang
Journal:  Hum Mol Genet       Date:  2016-05-18       Impact factor: 6.150

Review 5.  Navigating the current landscape of clinical genetic testing for inherited retinal dystrophies.

Authors:  Kristy Lee; Seema Garg
Journal:  Genet Med       Date:  2015-03-19       Impact factor: 8.822

6.  Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

Authors:  Jason Charng; Artur V Cideciyan; Samuel G Jacobson; Alexander Sumaroka; Sharon B Schwartz; Malgorzata Swider; Alejandro J Roman; Rebecca Sheplock; Manisha Anand; Marc C Peden; Hemant Khanna; Elise Heon; Alan F Wright; Anand Swaroop
Journal:  Hum Mol Genet       Date:  2016-12-15       Impact factor: 6.150

7.  Identification of false-negative mutations missed by next-generation sequencing in retinitis pigmentosa patients: a complementary approach to clinical genetic diagnostic testing.

Authors:  Xiu-Feng Huang; Juan Wu; Ji-Neng Lv; Xiao Zhang; Zi-Bing Jin
Journal:  Genet Med       Date:  2015-01-08       Impact factor: 8.822

8.  Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia.

Authors:  Marcus A Toral; Gabriel Velez; Katherine Boudreault; Kellie A Schaefer; Yu Xu; Norman Saffra; Alexander G Bassuk; Stephen H Tsang; Vinit B Mahajan
Journal:  Mol Genet Genomic Med       Date:  2017-02-26       Impact factor: 2.183

9.  Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem Cells.

Authors:  Alexander G Bassuk; Andrew Zheng; Yao Li; Stephen H Tsang; Vinit B Mahajan
Journal:  Sci Rep       Date:  2016-01-27       Impact factor: 4.379
  9 in total

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