Literature DB >> 33233984

Response to Finsterer's "Exclude hereditary and acquired differential disorders before attributing retinoschisis to Kears-Sayre syndrome".

Julia Chertkof1, Robert B Hufnagel1, Delphine Blain1, Andrea L Gropman2, Brian P Brooks1.   

Abstract

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Mesh:

Year:  2020        PMID: 33233984      PMCID: PMC8127728          DOI: 10.1080/13816810.2020.1832295

Source DB:  PubMed          Journal:  Ophthalmic Genet        ISSN: 1381-6810            Impact factor:   1.803


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  3 in total

1.  Retinoschisis and hyperopia associated with partial monosomy of 6q and partial trisomy of 11q.

Authors:  Nika Bagheri; Reecha S Bahl; Arun D Singh; Paul J Rychwalski
Journal:  Ophthalmic Genet       Date:  2013-11-19       Impact factor: 1.803

2.  Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis.

Authors:  Ajoy Vincent; Judith Ng; Christina Gerth-Kahlert; Erika Tavares; Jason T Maynes; Thomas Wright; Amit Tiwari; Anupreet Tumber; Shuning Li; James V M Hanson; Angela Bahr; Heather MacDonald; Luzy Bähr; Carol Westall; Wolfgang Berger; Frans P M Cremers; Anneke I den Hollander; Elise Héon
Journal:  Invest Ophthalmol Vis Sci       Date:  2016-05-01       Impact factor: 4.799

3.  Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.

Authors:  Edwin M Stone; Jeaneen L Andorf; S Scott Whitmore; Adam P DeLuca; Joseph C Giacalone; Luan M Streb; Terry A Braun; Robert F Mullins; Todd E Scheetz; Val C Sheffield; Budd A Tucker
Journal:  Ophthalmology       Date:  2017-05-27       Impact factor: 12.079

  3 in total

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