Zobrazeno 1 - 10
of 1 589
pro vyhledávání: '"Congenital cataracts"'
Autor:
Monika Nowak, Julia Górczyńska, Maciej Dyda, Katarzyna Mazur-Melewska, Kinga Zimna, Hanna Zając-Pytrus
Publikováno v:
Pediatria Polska, Vol 98, Iss 4, Pp 326-331 (2023)
Congenital cataracts are clouding of the crystalline lens inside the eye, which is present at birth and leads to a decrease in vision. It is one of the three leading causes of blindness in children, responsible for up to 27.6% of cases. The etiology
Externí odkaz:
https://doaj.org/article/eeb6a9afc654408e86efe671c6adce4c
Autor:
Zhi-Bo Lin, Zhen-Ji Chen, Hui Yang, Xing-Ru Ding, Jin Li, An-Peng Pan, Hai-Sen Sun, A.-Yong Yu, Shi-Hao Chen
Publikováno v:
BMC Ophthalmology, Vol 23, Iss 1, Pp 1-7 (2023)
Abstract Introduction Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare genetic disease with diverse ocular malformations. This study aimed to investigate the disease-causing gene in members of a BPES pedigree presenting wit
Externí odkaz:
https://doaj.org/article/929e509171d246588d46e2ca62d3bc27
Autor:
Tameemi Abdallah Moady, Marwan Odeh, Ayalla Fedida, Zvi Segal, Maayan Gruber, Moshe Goldfeld, Limor Kalfon, Tzipora C. Falik-Zaccai
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionPathogenic variants of the junctional adhesion molecule 3 (JAM3/JAM-C; OMIM#606871) is the cause of the rare recessive disorder called hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC, OMIM#613730) d
Externí odkaz:
https://doaj.org/article/28e588f2d1774f7ca1b1b142b2aadc69
Autor:
Yazhou Huang, Linya Ma, Zhaoxia Zhang, Shujuan Nie, Yuan Zhou, Jibo Zhang, Chao Wang, Xingxin Fang, Yingting Quan, Ting He, Anhui Liu, Dan Peng
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 2, Pp n/a-n/a (2023)
Abstract Background Nance–Horan syndrome (NHS) is a rare and often overlooked X‐linked dominant disorder characterized by dense congenital cataracts, dental abnormalities, and mental retardation. The majority of NHS variations include frameshift
Externí odkaz:
https://doaj.org/article/11788a9a2993478fa010afeef88da7fe
Publikováno v:
eLife, Vol 11 (2022)
Being able to perform adept goal-directed actions requires predictive, feed-forward control, including a mapping between the visually estimated target locations and the motor commands reaching for them. When the mapping is perturbed, e.g., due to mus
Externí odkaz:
https://doaj.org/article/351f0c91e45645eda209cb777dc768a1
Akademický článek
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Akademický článek
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Autor:
Bela Parekh, Adelyn Beil, Bridget Blevins, Adam Jacobson, Pamela Williams, Jeffrey W. Innis, Amanda Barone Pritchard, Lev Prasov
Publikováno v:
Genes, Vol 14, Iss 3, p 726 (2023)
The Multidisciplinary Ophthalmic Genetics Clinic (MOGC) at the University of Michigan Kellogg Eye Center aims to provide medical and ophthalmic genetics care to patients with inherited ocular conditions. We have developed a clinical and referral work
Externí odkaz:
https://doaj.org/article/a8526e7650bb4169a331a1eabcd5a5dd
Autor:
Zhenbao Zhou, MD, Liying Zhao, MD, Yanqin Guo, MD, Jingyi Zhuang, MD, Nan Zhuo, MD, Han Chen, MD, Jieting Liu, MD, Libo Wang, MD
Publikováno v:
Ophthalmology Science, Vol 2, Iss 1, Pp 100093- (2022)
Purpose: Crystallin protein mutations are associated with congenital cataract (CC), and several disease-causing mutations in the CRYGC gene have been identified. We present the location of a new mutation in CRYGC in members of a Chinese family who pr
Externí odkaz:
https://doaj.org/article/1136c48cf8c44e12a9542cfd7a358378
Publikováno v:
Frontiers in Medicine, Vol 8 (2021)
Patients treated for bilateral congenital cataracts provide a unique model to test the role of early visual input in shaping the development of the human cortex. Previous studies showed that brief early visual deprivation triggers long-lasting change
Externí odkaz:
https://doaj.org/article/e0c13d3001c444ae90325ccbbb468ae8