Zobrazeno 1 - 10
of 59
pro vyhledávání: '"John Chiang"'
Autor:
Kárita Antunes Costa, Mariana Vallim Salles, Chris Whitebirch, John Chiang, Juliana Maria Ferraz Sallum
Publikováno v:
International Journal of Retina and Vitreous, Vol 3, Iss 1, Pp 1-11 (2017)
Abstract Background Retinal dystrophies constitute a group of diseases characterized by clinical variability and pronounced genetic heterogeneity. Retinitis pigmentosa is the most common subtype of hereditary retinal dystrophy and is characterized by
Externí odkaz:
https://doaj.org/article/b04efcb315cd4c5ba5fe05ba979b6ba4
Autor:
Lauren A. Dalvin, Jackson E. Abou Chehade, John Chiang, Josefine Fuchs, Raymond Iezzi, Alan D. Marmorstein
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 2, Iss C, Pp 11-17 (2016)
Purpose: There is only one prior report associating mutations in BEST1 with a diagnosis of retinitis pigmentosa (RP). The imaging studies presented in that report were more atypical of RP and shared features of autosomal recessive bestrophinopathy an
Externí odkaz:
https://doaj.org/article/7a24673f13d742b68752905089b921b0
Autor:
Chuan-Chou Shen, John Chiang, Valerie Trouet, Véronique Michel, Hsien-Chen Tsai, Patricia Valensi, Christoph Spötl, Elisabetta Starnini, Marta Zunino, Wei-Yi Chien, Wen-Hui Sung, Yu-Tang Chien, Ping Chang, Robert Korty, Hsun-Ming Hu
The Little Ice Age (LIA) was the coldest period of the past millennium, characterized by high-density volcanism, low solar activity, and increased Northern Hemisphere sea-ice cover. Past studies of LIA circulation changes over the North Atlantic sect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e208f58a5655f56b37eda30dae6014d
https://doi.org/10.21203/rs.3.rs-1348259/v1
https://doi.org/10.21203/rs.3.rs-1348259/v1
Abrupt shift to El Niño-like mean state conditions in the tropical Pacific during the Little Ice Age
The mean state of the tropical Pacific ocean-atmosphere climate, in particular its east-west asymmetry, has profound consequences for regional climates and for the El Niño/ Southern Oscillation variability. Here we present a new high-resolution pale
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8f7501ba9bc52aae035917db530de55f
https://doi.org/10.31223/x5md1h
https://doi.org/10.31223/x5md1h
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 184:708-717
Inherited retinal diseases are clinically heterogeneous and are associated with nearly 300 different genes. In this retrospective, observational study of a consecutive cohort of 159 patients (134 families) with childhood-onset (
Publikováno v:
Ophthalmic Genetics. 41:386-389
Recent advances in genetic sequencing techniques have improved the overall diagnostic yield for finding genetic causes for inherited retinal dystrophies (IRD). Rod-cone dystrophy is the most common...
Autor:
Logan M. Smith, Audina M. Berrocal, Craig A. McKeown, Jonathan F. Russell, Mustafa Tekin, Byron L. Lam, John Chiang, Linda A. Cernichiaro-Espinosa
Publikováno v:
Ophthalmic Genetics. 41:57-62
Background: Juvenile X-linked Retinoschisis (JXLRS) is a hereditary retinopathy that commonly presents with macular retinoschisis. In this study, we describe a group of patients who presented with peripheral retinoschisis with no macular schisis.Mate
Publikováno v:
Genes, Vol 12, Iss 993, p 993 (2021)
Genes
Volume 12
Issue 7
Genes
Volume 12
Issue 7
Inherited retinal diseases (IRD) comprise a heterogeneous set of clinical and genetic disorders that lead to blindness. Given the emerging opportunities in precision medicine and gene thera-py, it has become increasingly important to determine whethe
Autor:
Jean Bennett, Leona W. Serrano, Drew Scoles, Grace K. Han, Kayla E Cunningham, Tomas S. Aleman, Erin C O'Neil, John Chiang
Publikováno v:
Ophthalmic Genetics. 40:267-275
Purpose: To confirm the pathogenic role of a novel mutation in PNPLA6 and detail the phenotype of a patient presenting with choroideremia-like chorioretinal degeneration. Methods: A 40-year-old man with presumed choroideremia underwent a complete oph
Publikováno v:
Documenta Ophthalmologica. 138:161-166
The Usher syndrome phenotype is comprised of ocular and audiologic anomalies. Patients characteristically experience congenital hearing loss, nyctalopia, reduced visual fields, and ultimately decreased visual acuity. However, diagnosis may initially