|1.||Richards, Allan J: 2 articles (08/2014 - 01/2008)|
|2.||Snead, Martin P: 2 articles (08/2014 - 01/2008)|
|3.||Scott, John D: 2 articles (08/2014 - 01/2008)|
|4.||Poulson, Arabella V: 2 articles (08/2014 - 01/2008)|
|5.||Ki, Chang Seok: 1 article (03/2016)|
|6.||Jang, Mi Ae: 1 article (03/2016)|
|7.||Yoon, Je Moon: 1 article (03/2016)|
|8.||Kim, Sang Jin: 1 article (03/2016)|
|9.||Laino, Daniela: 1 article (05/2015)|
|10.||Salpietro, Vincenzo: 1 article (05/2015)|
|1.||Retinal Detachment (Retinal Detachments)
01/01/2014 - "The findings in these sisters indicate that retinal detachment is associated with Stickler syndrome type 1. Micro-incison vitreous surgery might be effective for rhegmatogeneous retinal detachment with high vitreous liquefaction."
03/01/2016 - "Ocular-only variant of Stickler syndrome type 1 (OSTL1) is characterized by high risk of retinal detachment without systemic involvement and is caused by alternatively spliced exon 2 mutation of COL2A1. "
01/01/2008 - "Retinal detachment and prophylaxis in type 1 Stickler syndrome."
11/01/1996 - "Retinal detachment in identical twins with Stickler syndrome type 1."
08/01/2014 - "In the largest global cohort of type 1 Stickler syndrome patients published, all analyses indicate that the Cambridge prophylactic cryotherapy protocol is safe and markedly reduces the risk of retinal detachment."
01/01/2008 - "To report the prevalence of retinal detachment (RD) and results of prophylaxis against detachment from a giant retinal tear in a large cohort of patients with type 1 Stickler syndrome. "
08/01/2014 - "We evaluate the long-term safety and efficacy of the Cambridge prophylactic cryotherapy protocol, a standardized retinal prophylactic treatment developed to prevent retinal detachment arising from giant retinal tears in type 1 Stickler syndrome. "
05/01/2015 - "• This report raises the possibility of a potential occurrence of seizures among the clinical manifestations of Stickler syndrome type 1, suggesting a continuous neurological spectrum in some individuals affected by heterozygous mutations of COL2A1."
05/01/2015 - "This report raises the possibility of a potential occurrence of seizures among the clinical manifestations of Stickler syndrome type 1, suggesting the presence of a continuous neurological spectrum in some individuals harboring heterozygous mutations in COL2A1. "
05/01/2015 - "We report three Caucasian children with: (a) ocular, oral, facial, auditory, and musculoskeletal manifestations of Stickler syndrome type 1; (b) history of generalized and/or partial seizures coupled with abnormal electroencephalographic records; and (c) pathogenic heterozygous mutations of the COL2A1 gene. "
|4.||Osteochondrodysplasias (Spondyloepiphyseal Dysplasia)
09/01/2003 - "Clinical examination and linkage analysis of both families using markers flanking the COL2A1 gene associated with Stickler syndrome type 1, the loci for Wagner disease/erosive vitreoretinopathy (5q14.3), high myopia (18p11.31 and 12q21-q23), and nonsyndromic congenital retinal nonattachment (10q21). "
|3.||Hyaloideoretinal degeneration of Wagner
|1.||Cryotherapy (Therapy, Cold)