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Select item 69389481.

Bilateral rhegmatogenous retinal detachments from giant retinal tears in an infant with abusive head trauma and Stickler syndrome

Jared J. Ebert, Virginia M. Utz, Robert A. Sisk

Am J Ophthalmol Case Rep. 2020 Mar; 17: 100581. Published online 2019 Dec 23. doi: 10.1016/j.ajoc.2019.100581

PMCID:: PMC6938948

Abstract Article PDF–761K

Select item 49357622.

Novel mutations in the COL2A1 gene in Japanese patients with Stickler syndrome

Hiroyuki Kondo, Itsuka Matsushita, Tatsuo Nagata, Takaaki Hayashi, Masashi Kakinoki, Eiichi Uchio, Mineo Kondo, Masahito Ohji, Shunji Kusaka

Hum Genome Var. 2016; 3: 16018. Published online 2016 Jul 7. doi: 10.1038/hgv.2016.18

PMCID:: PMC4935762

Abstract Article PDF–226K

Select item 49933923.

Long-term surgical outcomes of retinal detachment in patients with Stickler syndrome

Devasis N Reddy, Yoshihiro Yonekawa, Benjamin J Thomas, Eric D Nudleman, George A Williams

Clin Ophthalmol. 2016; 10: 1531–1534. Published online 2016 Aug 16. doi: 10.2147/OPTH.S111526

PMCID:: PMC4993392

Abstract Article PDF–200K

Select item 51496394.

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations

Manisha Goyal, Seema Kapoor, Shiro Ikegawa, Gen Nishimura

Case Rep Pediatr. 2016; 2016: 3198597. Published online 2016 Nov 28. doi: 10.1155/2016/3198597

PMCID:: PMC5149639

Abstract Article PDF–614K

Select item 55740945.

A novel mutation in the COL2A1 gene in a patient with Stickler syndrome type 1: a case report and review of the literature

Yousuke Higuchi, Kosei Hasegawa, Miho Yamashita, Hiroyuki Tanaka, Hirokazu Tsukahara

J Med Case Rep. 2017; 11: 237. Published online 2017 Aug 26. doi: 10.1186/s13256-017-1396-y

PMCID:: PMC5574094

Abstract Article PDF–2.2M

Select item 56281806.

Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum

Long Guo, Nursel H Elcioglu, Zheng Wang, Yasemin K Demirkol, Pinar Isguven, Naomichi Matsumoto, Gen Nishimura, Noriko Miyake, Shiro Ikegawa

Hum Genome Var. 2017; 4: 17040. Published online 2017 Oct 5. doi: 10.1038/hgv.2017.40

PMCID:: PMC5628180

Abstract Article PDF–645K

Select item 58923427.

Case Report of a Family Affected by Stickler Syndrome in Which Rhegmatogenous Retinal Detachment Occurred in Five Eyes of Three Siblings

Daisaku Kimura, Takaki Sato, Shou Oosuka, Ryohsuke Kohmoto, Masanori Fukumoto, Masashi Mimura, Kensuke Tajiri, Takatoshi Kobayashi, Teruyo Kida, Tsunehiko Ikeda

Case Rep Ophthalmol. 2018 Jan-Apr; 9(1): 1–8. Published online 2018 Jan 4. doi: 10.1159/000485551

PMCID:: PMC5892342

Abstract Article PDF–735K

Select item 59384858.

Bilateral Asymmetric Rhegmatogenous Retinal Detachment in a Patient with Stickler Syndrome

Caner Öztürk, Almila Sarıgül Sezenöz, Gürsel Yılmaz, İmren Akkoyun

Turk J Ophthalmol. 2018 Apr; 48(2): 95–98. Published online 2018 Apr 25. doi: 10.4274/tjo.60430

PMCID:: PMC5938485

Abstract Article PDF–1.2M

Select item 60890379.

Phenotypic characterization of patients with early-onset high myopia due to mutations in COL2A1 or COL11A1: Why not Stickler syndrome?

Lin Zhou, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, Wenmin Sun, Fengsheng Zhang, Jiazhang Li, Tuo Li, Qingjiong Zhang

Mol Vis. 2018; 24: 560–573. Published online 2018 Aug 10.

PMCID:: PMC6089037

Abstract Article PDF–2.6M

Select item 610886310.

Targeted next-generation sequencing identifies two novel COL2A1 gene mutations in Stickler syndrome with bilateral retinal detachment

Xinhua Huang, Ying Lin, Chuan Chen, Yi Zhu, Hongbin Gao, Tao Li, Bingqian Liu, Cancan Lyu, Ying Huang, Qingxiu Wu, Haichun Li, Chenjin Jin, Xiaoling Liang, Lin Lu

Int J Mol Med. 2018 Oct; 42(4): 1819–1826. Published online 2018 Jul 4. doi: 10.3892/ijmm.2018.3752

PMCID:: PMC6108863

Abstract Article PDF–961K

Select item 611928111.

Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report

N. Riise, B. R. Lindberg, M. A. Kulseth, S. O. Fredwall, R. Lundby, M.-E. Estensen, L. Drolsum, E. Merckoll, K. Krohg-Sørensen, B. Paus

BMC Med Genet. 2018; 19: 155. Published online 2018 Aug 31. doi: 10.1186/s12881-018-0671-0

PMCID:: PMC6119281

Abstract Article PDF–2.4M

Select item 630256512.

The importance of early diagnosis of Stickler syndrome: Finding opportunities for preventing blindness

Michael J. Shapiro, Michael P. Blair, Mark A. Solinski, David L. Zhang, Sayena Jabbehdari

Taiwan J Ophthalmol. 2018 Oct-Dec; 8(4): 189–195. doi: 10.4103/tjo.tjo_97_18

PMCID:: PMC6302565

Abstract Article PDF–840K

Select item 636581013.

Floppy eyelid syndrome in stickler syndrome

Susan Y. Sun, Jose S. Pulido, George B. Bartley, John J. Chen

Am J Ophthalmol Case Rep. 2019 Jun; 14: 14–15. Published online 2019 Jan 31. doi: 10.1016/j.ajoc.2019.01.014

PMCID:: PMC6365810

Abstract Article PDF–376K

Select item 646057814.

Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia

Thomas R. W. Nixon, Allan Richards, Laura K. Towns, Gavin Fuller, Stephen Abbs, Philip Alexander, Annie McNinch, Richard N. Sandford, Martin P. Snead

Eur J Hum Genet. 2019 Mar; 27(3): 369–377. Published online 2018 Dec 19. doi: 10.1038/s41431-018-0316-y

PMCID:: PMC6460578

Abstract Article PDF–2.1M

Select item 668000015.

Reduced penetrance in a large Caucasian pedigree with Stickler syndrome

Stuart W. Tompson, Charles Johnson, Diana Abbott, Benjamin Bakall, Vincent Soler, Tammy L. Yanovitch, Kristina N. Whisenhunt, Thomas Klemm, Steve Rozen, Edwin M. Stone, Max Johnson, Terri L. Young

Ophthalmic Genet. Author manuscript; available in PMC 2019 Aug 4.

Published in final edited form as: Ophthalmic Genet. 2017 Jan-Feb; 38(1): 43–50. Published online 2017 Jan 17. doi: 10.1080/13816810.2016.1275018