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Items: 1 to 20 of 156

1.
Posterior Precortical Vitreous Pocket in Stickler Syndrome: A Report of Two Cases
Tetsuhiro Nagashima, Hideo Akiyama, Kosuke Nakamura, Shunsuke Tokui, Keisuke Nitta
Cureus. 2024 May; 16(5): e59633. Published online 2024 May 4. doi: 10.7759/cureus.59633
PMCID:
PMC11146095
AbstractArticlePDF–568K
2.
Recurrent Retinal Detachment in Stickler Syndrome
Timothy Chen, Marjan Fooladi, Michelle Alabek, Hannah Scanga, Kelly Tripi, Ken Nischal, Joseph Martel
Version 1. Res Sq. Preprint. 2024 Apr 5. doi: 10.21203/rs.3.rs-3941698/v1
PMCID:
PMC11030509
AbstractArticlePDF–408K
3.
Retinal detachment with multiple macrocysts in Stickler syndrome: case report and review of the literature
Guina Liu, Ming Hu, Chengcheng Cai, Xiaoshuang Jiang, Fang Lu
Front Med (Lausanne) 2024; 11: 1367281. Published online 2024 Mar 26. doi: 10.3389/fmed.2024.1367281
PMCID:
PMC11002087
AbstractArticlePDF–985K
4.
Anesthetic Management of a Cesarean Section for Preeclampsia in a Parturient With Stickler Syndrome: A Case Report
Kenichi Takechi, Mayuko Fujimoto, Ichiro Shimizu
Cureus. 2023 Dec; 15(12): e51190. Published online 2023 Dec 27. doi: 10.7759/cureus.51190
PMCID:
PMC10817791
AbstractArticlePDF–92K
5.
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
AbstractArticlePDF–14M
6.
Management of an Anticipated Difficult Airway in a Pediatric Patient With Stickler Syndrome
Joana Veiga, Pedro Moreira, Elsa Soares, Helena Salgado
Cureus. 2023 Nov; 15(11): e49622. Published online 2023 Nov 29. doi: 10.7759/cureus.49622
PMCID:
PMC10755609
AbstractArticlePDF–280K
7.
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
AbstractArticlePDF–1.0M
8.
Axial length shortening in myopic children with Stickler syndrome after repeated low-level red-light therapy
Xiang-Hua Tang, Meng-Ting Yu, Yin Hu, Ming-Guang He, Xiao Yang
Int J Ophthalmol. 2023; 16(10): 1712–1717. Published online 2023 Oct 18. doi: 10.18240/ijo.2023.10.22
PMCID:
PMC10559035
AbstractArticlePDF–877K
9.
Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2
Ying Su, Chun-Qiong Ran, Zhe-Long Liu, Yan Yang, Gang Yuan, Shu-Hong Hu, Xue-Feng Yu, Wen-Tao He
Front Genet. 2023; 14: 1154087. Published online 2023 Jun 6. doi: 10.3389/fgene.2023.1154087
PMCID:
PMC10279880
AbstractArticlePDF–1.4M
10.
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
AbstractArticlePDF–2.8M
11.
Therapeutic and diagnostic advances in Stickler syndrome
Martin Snead, Howard Martin, Peter Bale, Nick Shenker, David Baguley, Philip Alexander, Annie McNinch, Arabella Poulson
Ther Adv Rare Dis. 2020 Jan-Dec; 1: 2633004020978661. Published online 2020 Dec 9. doi: 10.1177/2633004020978661
PMCID:
PMC10032448
AbstractArticlePDF–1.0M
12.
Mutation survey in Taiwanese patients with Stickler syndrome
Faye Huang, Tzu-Jou Wang, Wan-Hua Cho, Yi-Hao Chen, Pei-Chang Wu, Hsi-Kung Kuo
Taiwan J Ophthalmol. 2022 Oct-Dec; 12(4): 423–429. Published online 2022 Apr 13. doi: 10.4103/tjo.tjo_3_22
PMCID:
PMC9843582
AbstractArticlePDF–873K
13.
Preventing Retinal Detachment: Where are We? Implications from Stickler Syndrome
Robert E Morris, Ferenc Kuhn, Timothy Sipos
Clin Ophthalmol. 2022; 16: 4315–4321. Published online 2022 Dec 23. doi: 10.2147/OPTH.S388631
PMCID:
PMC9793794
AbstractArticlePDF–720K
14.
Musculoskeletal and Gait Characteristics in Patients with Stickler Syndrome: A Cross-Sectional Study
Juan José Fernández-Pérez, Paloma Mascaraque-Ruiz, Carlos Martín-Gómez, Ignacio Martínez-Caballero, Teresa Otón, Loreto Carmona, Sergio Lerma-Lara
Children (Basel) 2022 Dec; 9(12): 1895. Published online 2022 Dec 2. doi: 10.3390/children9121895
PMCID:
PMC9777477
AbstractArticlePDF–1.2M
15.
Zebrafish Model of Stickler Syndrome Suggests a Role for Col2a1a in the Neural Crest during Early Eye Development
Antionette L. Williams, Brenda L. Bohnsack
J Dev Biol. 2022 Dec; 10(4): 42. Published online 2022 Oct 1. doi: 10.3390/jdb10040042
PMCID:
PMC9589970
AbstractArticlePDF–9.9M
16.
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
AbstractArticlePDF–1.1M
17.
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
AbstractArticlePDF–1.9M
18.
Quality of Life in Children and Adolescents with Stickler Syndrome in Spain
Juan José Fernández-Pérez, Paloma Mascaraque-Ruiz, Carlos Martín Gómez, Ignacio Martínez-Caballero, Teresa Otón, Loreto Carmona, Sergio Lerma Lara
Children (Basel) 2022 Aug; 9(8): 1255. Published online 2022 Aug 19. doi: 10.3390/children9081255
PMCID:
PMC9406814
AbstractArticlePDF–272K
19.
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
AbstractArticlePDF–1.2M
20.
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
AbstractArticlePDF–3.3M

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