Zobrazeno 1 - 10
of 1 474
pro vyhledávání: '"STICKLER syndrome"'
Publikováno v:
Guoji Yanke Zazhi, Vol 24, Iss 12, Pp 1939-1944 (2024)
Stickler syndrome is a hereditary connective tissue disorder, characterized in ocular manifestations by high myopia and vitreous abnormalities. The progression of the disease can lead to giant retinal tear and rhegmatogenous retinal detachment, makin
Externí odkaz:
https://doaj.org/article/29f7be950e9d4b1f85bb7767a7eefc6d
Autor:
Wubben, Thomas J.1, Branham, Kari H.1, Besirli, Cagri G.1, Bohnsack, Brenda L.1 brendabo@med.umich.edu
Publikováno v:
Ophthalmic Genetics. Oct2018, Vol. 39 Issue 5, p615-618. 4p.
Publikováno v:
Cleft Palate Craniofacial Journal; Feb2024, Vol. 61 Issue 2, p231-234, 4p
Publikováno v:
African Vision and Eye Health, Vol 83, Iss 1, Pp e1-e7 (2024)
Introduction: Stickler syndrome is a rare form of hereditary generalised collagenopathies that manifests as ocular, skeletal, auditory and orofacial symptoms. It arises because of mutations in the procollagen genes COL2A1, COL9A1, COL9A2, COL9A3, COL
Externí odkaz:
https://doaj.org/article/108c408f1a3347038db968032fb1cb08
Autor:
Yujing Gong, Weijian Zhu, Mianmian Zhu, Dan Chen, Sunke Wu, Sisi Hu, Yi Luo, Yiyi Jiang, Ting Zhu, Dan Wang
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
BackgroundStickler syndrome type I (STL1) is an autosomal dominant disorder characterized by ocular, auditory, orofacial, and skeletal anomalies. The main causes of STL1 are variants in the COL2A1 gene, which encodes a type II collagen precursor prot
Externí odkaz:
https://doaj.org/article/63e3e3f513d44b9d9db7c02a73571eca
Autor:
Kimura, Daisaku1,2, Sato, Takaki1, Oosuka, Shou1, Kohmoto, Ryohsuke1, Fukumoto, Masanori1, Mimura, Masashi1, Tajiri, Kensuke1, Kobayashi, Takatoshi1, Kida, Teruyo1, Ikeda, Tsunehiko1 tikeda@osaka-med.ac.jp
Publikováno v:
Case Reports in Ophthalmology. Jan-Apr2018, Vol. 9 Issue 1, p1-8. 8p.
Autor:
Higuchi, Yousuke p0b980ia@okayama-u.ac.jp, Hasegawa, Kosei1 haseyan@md.okayama-u.ac.jp, Yamashita, Miho yamashita@m.ndsu.ac.jp, Tanaka, Hiroyuki2 hrtanaka@saiseidr.jp, Tsukahara, Hirokazu3 tsukah-h@cc.okayama-u.ac.jp
Publikováno v:
Journal of Medical Case Reports. 8/26/2017, Vol. 11 Issue 1, p1-6. 6p.
Autor:
Roy, Roniya Ann1, Rajan, Sunil1 sunilrajan@aims.amrita.edu, Sasikumar, Niranjan Kumar1, Paul, Jerry1
Publikováno v:
Research & Opinion in Anesthesia & Intensive Care. Jul-Sep2022, Vol. 9 Issue 3, p250-251. 2p.
Autor:
Viakhireva, I. a, ⁎, Bychkov, I. a, Markova, T. a, Shatokhina, O. a, Karandasheva, K. a, Udalova, V. b, Bekhtereva, Y. c, Ryzhkova, O. a, Skoblov, M. a
Publikováno v:
In Bone April 2024 181
Publikováno v:
International Journal of Ophthalmology, Vol 16, Iss 10, Pp 1712-1717 (2023)
AIM: To report the myopia-controlling effect of repeated low-level red-light (RLRL) therapy in patients with Stickler syndrome (STL), an inherited collagenic disease typically presenting with early onset myopia. METHODS: Three STL children, aged 3, 7
Externí odkaz:
https://doaj.org/article/7f376c0a36214ab08b057e6dc32e6151