Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Rosanne Keep"'
Autor:
Hang Pham, Michelle D Lingao, Anuradha Ganesh, Jenina E Capasso, Rosanne Keep, Karthikeyan A Sadagopan, Alex V Levin
Publikováno v:
Oman Journal of Ophthalmology, Vol 9, Iss 1, Pp 49-51 (2016)
Organophosphates have rarely been reported to cause various ocular sequelae including retinal degeneration. Retinal manifestations have been rarely reported and poorly characterized. We describe a case of a 76-year-old man with vision loss beginning
Externí odkaz:
https://doaj.org/article/36308fee02d245f5a0d21de7d359aecc
Autor:
Johannah Lebow, Sachiko Nakagawa, Stephen Apfelroth, Jie Zhan, Jodi D. Hoffman, Rosanne Keep, Andrew Spencer, Adele Schneider, David N. Finegold, Darnelle Dorsainville, Wei Sun, Sherman Minkoff, Joel Charrow, Susan J. Gross, Kirk Aleck, Nicole Schreiber-Agus
Publikováno v:
American Journal of Medical Genetics Part A. :2444-2447
Tay-Sachs disease (TSD) carrier screening, initiated in the 1970s, has reduced the birth-rate of Ashkenazi Jews with TSD worldwide by 90%. Recently, several nationwide programs have been established that provide carrier screening for the updated pane
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::429f1be4af5f4c7e3ddb39c978f183cb
https://doi.org/10.1002/ajmg.a.33085
https://doi.org/10.1002/ajmg.a.33085
Autor:
Terri L. Young, Nkecha Hughes, Jie Zhou, Rosanne Keep, Marybeth Hummel, Darnelle Dorsainville, James A. Katowitz, Lisa A. Schimmenti, Femida Kherani, David R. FitzPatrick, Adele Schneider, Tanya Bardakjian
Publikováno v:
Schneider, A, Bardakjian, T M, Zhou, J, Hughes, N, Keep, R, Dorsainville, D, Kherani, F, Katowitz, J, Schimmenti, L A, Hummel, M, Fitzpatrick, D R & Young, T L 2008, ' Familial recurrence of SOX2 anophthalmia syndrome : phenotypically normal mother with two affected daughters ', American Journal of Medical Genetics Part A, vol. 146A, no. 21, pp. 2794-8 . https://doi.org/10.1002/ajmg.a.32384
The SOX2 anophthalmia syndrome is emerging as a clinically recognizable disorder that has been identified in 10–15% of individuals with bilateral anophthalmia. Extra-ocular anomalies are common. The majority of SOX2 mutations identified appear to a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::786b49e0aab1b2612158e30816ec2d9a
https://www.pure.ed.ac.uk/ws/files/8915208/Familial_recurrence_of_SOX2_anophthalmia_syndrome.pdf
https://www.pure.ed.ac.uk/ws/files/8915208/Familial_recurrence_of_SOX2_anophthalmia_syndrome.pdf
