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Select item 107977481.

Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia

Yi Jiang, Xueshan Xiao, Wenmin Sun, Yingwei Wang, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J. Fielding Hejtmancik, Qingjiong Zhang

J Transl Med. 2024; 22: 75. Published online 2024 Jan 19. doi: 10.1186/s12967-024-04886-5

PMCID:: PMC10797748

Article PDF–3.8M

Select item 107675952.

Exome sequencing‐aided precise diagnosis of four families with type I Stickler syndrome

Runyi Tian, Ping Tong, Yuhong He, Liyu Zang, Shimin Zhou, Qi Tian

Mol Genet Genomic Med. 2024 Jan; 12(1): e2331. Published online 2023 Dec 11. doi: 10.1002/mgg3.2331

PMCID:: PMC10767595

Article PDF–14M

Select item 107544633.

Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1

Katherine Stanbury, Renata Stavinohova, Louise Pettitt, Chris Dixon, Ellen C. Schofield, Bryan Mclaughlin, Inka Pettinen, Hannes Lohi, Sally L. Ricketts, James A. Oliver, Cathryn S. Mellersh

PLoS One. 2023; 18(12): e0295851. Published online 2023 Dec 28. doi: 10.1371/journal.pone.0295851

PMCID:: PMC10754463

Article PDF–1.0M

Select item 101381944.

Characteristics of a Three-Generation Family with Stickler Syndrome Type I Carrying Two Different COL2A1 Mutations

Adam Jacobson, Cagri G. Besirli, Brenda L. Bohnsack

Genes (Basel) 2023 Apr; 14(4): 847. Published online 2023 Mar 31. doi: 10.3390/genes14040847

PMCID:: PMC10138194

Article PDF–2.8M

Select item 100194895.

The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia

Yi Jiang, Lin Zhou, Yingwei Wang, Jiamin Ouyang, Shiqiang Li, Xueshan Xiao, Xiaoyun Jia, Junwen Wang, Zhen Yi, Wenmin Sun, Xiaodong Jiao, Panfeng Wang, J. Fielding Hejtmancik, Qingjiong Zhang

Invest Ophthalmol Vis Sci. 2023 Mar; 64(3): 24. Published online 2023 Mar 14. doi: 10.1167/iovs.64.3.24

PMCID:: PMC10019489

Article PDF–6.2M

Select item 94984496.

Hearing Loss in Stickler Syndrome: An Update

Frederic R. E. Acke, Els M. R. De Leenheer

Genes (Basel) 2022 Sep; 13(9): 1571. Published online 2022 Sep 1. doi: 10.3390/genes13091571

PMCID:: PMC9498449

Article PDF–1.1M

Select item 94261147.

Genetic testing in four Indian families with suspected Stickler syndrome

Suganya Kandeeban, Kaustubh Kandale, Porkodi Periyasamy, Muna Bhende, Pramod Bhende, Sinnakaruppan Mathavan, Sripriya Sarangapani

Indian J Ophthalmol. 2022 Jul; 70(7): 2578–2583. Published online 2022 Jun 30. doi: 10.4103/ijo.IJO_1833_21

PMCID:: PMC9426114

Article PDF–1.9M

Select item 93243128.

Autosomal Recessive Stickler Syndrome

Thomas R. W. Nixon, Allan J. Richards, Howard Martin, Philip Alexander, Martin P. Snead

Genes (Basel) 2022 Jul; 13(7): 1135. Published online 2022 Jun 24. doi: 10.3390/genes13071135

PMCID:: PMC9324312

Article PDF–1.2M

Select item 93186729.

Prevention of Blindness in Stickler Syndrome

Philip Alexander, Martin P. Snead

Genes (Basel) 2022 Jul; 13(7): 1150. Published online 2022 Jun 26. doi: 10.3390/genes13071150

PMCID:: PMC9318672

Article PDF–3.3M

Select item 922274310.

Dominant Stickler Syndrome

Zack Soh, Allan J. Richards, Annie McNinch, Philip Alexander, Howard Martin, Martin P. Snead

Genes (Basel) 2022 Jun; 13(6): 1089. Published online 2022 Jun 18. doi: 10.3390/genes13061089

PMCID:: PMC9222743

Article PDF–3.2M

Select item 894808511.

Genetic background in late-onset sensorineural hearing loss patients

Natsumi Uehara, Takeshi Fujita, Daisuke Yamashita, Jun Yokoi, Sayaka Katsunuma, Akinobu Kakigi, Shin-ya Nishio, Ken-ichi Nibu, Shin-ichi Usami

J Hum Genet. 2022; 67(4): 223–230. Published online 2021 Nov 26. doi: 10.1038/s10038-021-00990-2

PMCID:: PMC8948085

Article PDF–772K

Select item 889916012.

A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I

Xiuzhen Liu, Hongliang Dong, Yuerong Gong, Lianqing Wang, Ruyi Zhang, Tihua Zheng, Yuxi Zheng, Shuang Shen, Chelsea Zheng, Mingming Tian, Naiguo Liu, Xiaolin Zhang, Qing Yin Zheng

J Cell Mol Med. 2022 Mar; 26(5): 1530–1539. Published online 2022 Jan 21. doi: 10.1111/jcmm.17187

PMCID:: PMC8899160

Article PDF–1.1M

Select item 889274513.

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Aboulfazl Rad, Maryam Najafi, Fatemeh Suri, Soheila Abedini, Stephen Loum, Ehsan Ghayoor Karimiani, Narsis Daftarian, David Murphy, Mohammad Doosti, Afrooz Moghaddasi, Hamid Ahmadieh, Hamideh Sabbaghi, Mohsen Rajati, Narges Hashemi, Barbara Vona, Miriam Schmidts

Orphanet J Rare Dis. 2022; 17: 97. Published online 2022 Mar 3. doi: 10.1186/s13023-022-02244-6

PMCID:: PMC8892745

Article PDF–2.3M

Select item 877533614.

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I

Tatyana Markova, Vladimir Kenis, Evgeniy Melchenko, Darya Osipova, Tatyana Nagornova, Anna Orlova, Ekaterina Zakharova, Elena Dadali, Sergey Kutsev

Genes (Basel) 2022 Jan; 13(1): 137. Published online 2022 Jan 13. doi: 10.3390/genes13010137

PMCID:: PMC8775336

Article PDF–1.9M

Select item 877451015.

Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort

Dabin Moon, Hye Won Park, Dongheon Surl, Dongju Won, Seung-Tae Lee, Saeam Shin, Jong Rak Choi, Jinu Han

Genes (Basel) 2022 Jan; 13(1): 27. Published online 2021 Dec 23. doi: 10.3390/genes13010027

PMCID:: PMC8774510

Article PDF–3.2M

Select item 858010016.

Case report of the first molecular diagnosis of Stickler syndrome with a pathogenic COL2A1 variant in a Mongolia family

Hong Wu, Songtian Che, Shuchun Li, Yan Cheng, Jun Xiao, Zaoxia Liu

Mol Genet Genomic Med. 2021 Oct; 9(10): e1781. Published online 2021 Aug 18. doi: 10.1002/mgg3.1781

PMCID:: PMC8580100

Article PDF–358K

Select item 853601517.

Genetic Characteristics and Phenotype of Korean Patients with Stickler Syndrome: A Korean Multicenter Analysis Report No. 1

Soon-Il Choi, Se-Joon Woo, Baek-Lok Oh, Jinu Han, Hyun-Taek Lim, Byung-Joo Lee, Kwangsic Joo, Jun-Young Park, Ja-Hyun Jang, Min-Kyung So, Sang-Jin Kim

Genes (Basel) 2021 Oct; 12(10): 1578. Published online 2021 Oct 5. doi: 10.3390/genes12101578