Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 18 (of 18 Records) |
| Query Trace: Stickler Syndrome[original query] |
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| The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1. Genetics in medicine : official journal of the American College of Medical Genetics 2003 1 5 (1): 21-7. Liberfarb Ruth M, Levy Howard P, Rose Peter S, Wilkin Douglas J, Davis Joie, Balog Joan Z, Griffith Andrew J, Szymko-Bennett Yvonne M, Johnston Jennifer J, Francomano Clair A, Tsilou Ekaterina, Rubin Benhamin |
| Auditory function associated with Col11a1 haploinsufficiency in chondrodysplasia (cho) mice. Hearing research 2003 1 175 (1-2): 178-82. Szymko-Bennett Yvonne M, Kurima Kiyoto, Olsen Bjorn, Seegmiller Robert, Griffith Andrew |
| Host genetic and epigenetic factors in toxoplasmosis. Memórias do Instituto Oswaldo Cruz 2009 Mar 104 (2): 162-9. Jamieson Sarra E, Cordell Heather, Petersen Eskild, McLeod Rima, Gilbert Ruth E, Blackwell Jenefer |
| Applying and testing the conveniently optimized enzyme mismatch cleavage method to clinical DNA diagnosis. Molecular genetics and metabolism 2012 Nov 107 (3): 580-5. Niida Yo, Kuroda Mondo, Mitani Yusuke, Okumura Akiko, Yokoi Aya |
| Ophthalmic and molecular genetic findings in Kniest dysplasia. Eye (London, England) 2015 Apr 29 (4): 475-82. Sergouniotis P I, Fincham G S, McNinch A M, Spickett C, Poulson A V, Richards A J, Snead M |
| Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome. Molecular vision 2016 22 697-704. Wang Xun, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Li Jie, Li Yadi, Wei Yantao, Liang Xiaoling, Guo Xiangmi |
| Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment. Human mutation 2016 Jul . Spickett Carl, Hysi Pirro, Hammond Chistopher J, Prescott Alan, Fincham Gregory S, Poulson Arabella V, McNinch Annie M, Richards Allan J, Snead Martin |
| Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2016 Jan . Acke Frederic R, Swinnen Freya K, Malfait Fransiska, Dhooge Ingeborg J, De Leenheer Els M |
| Stickler syndrome in children: a radiological review. Clinical radiology 2018 4 73 (7): 678.e13-678.e18. McArthur N, Rehm A, Shenker N, Richards A J, McNinch A M, Poulson A V, Tanner J, Snead M P, Bearcroft P W |
| Comprehensive analysis of syndromic hearing loss patients in Japan. Scientific reports 2019 8 9 (1): 11976. Ideura Michie, Nishio Shin-Ya, Moteki Hideaki, Takumi Yutaka, Miyagawa Maiko, Sato Teruyuki, Kobayashi Yumiko, Ohyama Kenji, Oda Kiyoshi, Matsui Takamichi, Ito Tsukasa, Suzumura Hiroshi, Nagai Kyoko, Izumi Shuji, Nishiyama Nobuhiro, Komori Manabu, Kumakawa Kozo, Takeda Hidehiko, Kishimoto Yoko, Iwasaki Satoshi, Furutate Sakiko, Ishikawa Kotaro, Fujioka Masato, Nakanishi Hiroshi, Nakayama Jun, Horie Rie, Ohta Yumi, Naito Yasushi, Kakudo Mariko, Sakaguchi Hirofumi, Kataoka Yuko, Sugahara Kazuma, Hato Naohito, Nakagawa Takashi, Tsuchihashi Nana, Kanda Yukihiko, Kihara Chiharu, Tono Tetsuya, Miyanohara Ikuyo, Ganaha Akira, Usami Shin-Ic |
| Electroretinograms of eyes with Stickler syndrome. Documenta ophthalmologica. Advances in ophthalmology 2019 11 140 (3): 233-243. Kondo Hiroyuki, Fujimoto Kazushi, Imagawa Mamika, Oku Kazuma, Matsushita Itsuka, Hayashi Takaaki, Nagata Tats |
| Mutation Spectrum and De Novo Mutation Analysis in Stickler Syndrome Patients with High Myopia or Retinal Detachment. Genes 2020 8 11 (8): . Huang Li, Chen Chonglin, Wang Zhirong, Sun Limei, Li Songshan, Zhang Ting, Luo Xiaoling, Ding Xiaoy |
| Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review. BMC medical genetics 2020 Feb 21 (1): 27. Wang Dan-Dan, Gao Feng-Juan, Hu Fang-Yuan, Zhang Sheng-Hai, Xu Ping, Wu Ji-Ho |
| High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1. Current eye research 2020 12 46 (7): 1051-1055. Rossenwasser-Weiss Shirel, Orenstein Naama, Zahavi Alon, Goldenberg-Cohen Nit |
| Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1. Genes 2021 10 12 (10): . Choi Soon-Il, Woo Se-Joon, Oh Baek-Lok, Han Jinu, Lim Hyun-Taek, Lee Byung-Joo, Joo Kwangsic, Park Jun-Young, Jang Ja-Hyun, So Min-Kyung, Kim Sang-J |
| LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME. Retina (Philadelphia, Pa.) 2023 2 43 (3): 498-505. Magliyah Moustafa S, Almarek Faisal, Nowilaty Sawsan R, Al-Abdi Lama, Alkuraya Fowzan S, Alowain Mohammed, Schatz Patrik, Alfaadhel Talal, Khan Arif O, Alsulaiman Sulaiman |
| Mutation survey in Taiwanese patients with Stickler syndrome. Taiwan journal of ophthalmology 2023 1 12 (4): 423-429. Huang Faye, Wang Tzu-Jou, Cho Wan-Hua, Chen Yi-Hao, Wu Pei-Chang, Kuo Hsi-Ku |
| Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia. Journal of translational medicine 2024 1 22 (1): 75. Yi Jiang, Xueshan Xiao, Wenmin Sun, Yingwei Wang, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J Fielding Hejtmancik, Qingjiong Zha |
- Page last reviewed:Feb 1, 2024
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