Literature DB >> 5928144

Choroideremia. Study of a family and literature review.

M L Rubin, R S Fishman, R A McKay.   

Abstract

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Year:  1966        PMID： 5928144     DOI： 10.1001/archopht.1966.03850010565015

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


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  8 in total

1.  Choroideremia: a clinical and pathologic review.

Authors:  C McCulloch
Journal:  Trans Am Ophthalmol Soc       Date:  1969

2.  Natural History of the Central Structural Abnormalities in Choroideremia: A Prospective Cross-Sectional Study.

Authors:  Tomas S Aleman; Grace Han; Leona W Serrano; Nicole M Fuerst; Emily S Charlson; Denise J Pearson; Daniel C Chung; Anastasia Traband; Wei Pan; Gui-Shuang Ying; Jean Bennett; Albert M Maguire; Jessica I W Morgan
Journal:  Ophthalmology       Date:  2016-12-13       Impact factor: 12.079

3.  Choroideremia is linked to the restriction fragment length polymorphism DXYS1 at XQ13-21.

Authors:  R L Nussbaum; R A Lewis; J G Lesko; R Ferrell
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

4.  Choroideremia: analysis of the retina from a female symptomatic carrier.

Authors:  Vera L Bonilha; Karmen M Trzupek; Yong Li; Peter J Francis; Joe G Hollyfield; Mary E Rayborn; Nizar Smaoui; Richard G Weleber
Journal:  Ophthalmic Genet       Date:  2008-09       Impact factor: 1.803

5.  Choroideremia: further evidence for assignment of the locus to Xq13-Xq21.

Authors:  M Schwartz; T Rosenberg; E Niebuhr; C Lundsteen; H Sardemann; O Andersen; H M Yang; L U Lamm
Journal:  Hum Genet       Date:  1986-12       Impact factor: 4.132

6.  Identification of Pathogenic Variants in the CHM Gene in Two Korean Patients With Choroideremia.

Authors:  Kunho Bae; Ju Sun Song; Chung Lee; Nayoung K D Kim; Woong Yang Park; Byoung Joon Kim; Chang Seok Ki; Sang Jin Kim
Journal:  Ann Lab Med       Date:  2017-09       Impact factor: 3.464

7.  Multimodal imaging in a case of choroideremia.

Authors:  Sugandha Goel; Kumar Saurabh; Rupak Roy
Journal:  Indian J Ophthalmol       Date:  2019-09       Impact factor: 1.848

8.  The genetic counseling in a patient affected by choroideremia solved with the whole-exome sequencing approach.

Authors:  Bedia Sahin; Erik Burton; Okkes Kuybu; Yavuz Sahin; John Brinkley
Journal:  Indian J Ophthalmol       Date:  2022-07       Impact factor: 2.969
  8 in total

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