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Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations

European journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.552-558

2012

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Clinical and molecular genetics of Stickler syndrome

Journal of Medical Genetics, 1999-05, Vol.36 (5), p.353-359

1999

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Retinal Detachment and Prophylaxis in Type 1 Stickler Syndrome

Ophthalmology (Rochester, Minn.), 2008, Vol.115 (1), p.164-168

2008

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Somatic mosaicism and the phenotypic expression of COL2A1 mutations

American journal of medical genetics. Part A, 2012-05, Vol.158A (5), p.1204-1207

2012

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Pathobiology of the crystalline lens in Stickler syndrome

Progress in retinal and eye research, 2024-11, Vol.103, p.101304, Article 101304

2024

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Ultrastructural investigation of the posterior hyaloid membrane in posterior vitreous detachment

Eye (London), 2024-10

2024

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Dominant Stickler Syndrome

Genes, 2022-06, Vol.13 (6), p.1089

2022

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Refinements in the use of silicone oil as an intraocular tamponade

Eye (London), 2024-07, Vol.38 (10), p.1810-1815

2024

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Molecular Basis of Pathogenic Variants in the Fibrillar Collagens

Genes, 2022-07, Vol.13 (7), p.1199

2022

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Posterior Vitreous Detachment and the Posterior Hyaloid Membrane

Ophthalmology (Rochester, Minn.), 2018-02, Vol.125 (2), p.227-236

2018

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Retinal detachment in Type IX collagen recessive Stickler syndrome

Eye (London), 2024-10

2024

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Stability of the Interface Between Two Immiscible Liquids in a Model Eye Subject to Saccadic Motion

Journal of biomechanical engineering, 2022-05, Vol.144 (5)

2022

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Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol

Ophthalmology (Rochester, Minn.), 2014-08, Vol.121 (8), p.1588-1597

2014

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Stickler Syndrome: Airway Complications in a Case Series of 502 Patients

Anesthesia and analgesia, 2021-01, Vol.132 (1), p.202-209

2021

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From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies

Genes, 2022-06, Vol.13 (7), p.1123

2022

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Prevention of Retinal Detachment in Stickler Syndrome

Ophthalmology (Rochester, Minn.), 2014-08, Vol.121 (8), p.1588-1597

2014

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Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome

European journal of ophthalmology, 2024-01, Vol.34 (1), p.NP1-NP5

2024

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A SIMPLE, INEXPENSIVE LASSO FOR INTRAOCULAR FOREIGN BODY EXTRACTION

Retina (Philadelphia, Pa.), 2018-04, Vol.38 (4), p.862-864

2018

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Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1

Human mutation, 2010-06, Vol.31 (6), p.E1461-E1471

2010

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Peripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome

Ophthalmology retina, 2024-10, Vol.8 (10), p.1013-1020

2024

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Single-Port Vitrectomy and “Oleodelamination” for the Management of Retinal Detachment Complicated by Proliferative Vitreoretinopathy

Retina (Philadelphia, Pa.), 2019-10, Vol.39 (1), p.S125-S128

2019

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Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

Journal of medical genetics, 2013-11, Vol.50 (11), p.765-771

2013

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Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment

Human molecular genetics, 2013-08, Vol.22 (15), p.3174-3185

2013

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Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity

European journal of human genetics : EJHG, 1999-10, Vol.7 (7), p.807-814

1999

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High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

Human mutation, 2006-07, Vol.27 (7), p.696-704

2006

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Splicing analysis of unclassified variants in COL2A1 and COL11A1 identifies deep intronic pathogenic mutations

Clinical and molecular genetics of Stickler syndrome

Retinal Detachment and Prophylaxis in Type 1 Stickler Syndrome

Somatic mosaicism and the phenotypic expression of COL2A1 mutations

Pathobiology of the crystalline lens in Stickler syndrome

Ultrastructural investigation of the posterior hyaloid membrane in posterior vitreous detachment

Dominant Stickler Syndrome

Refinements in the use of silicone oil as an intraocular tamponade

Molecular Basis of Pathogenic Variants in the Fibrillar Collagens

Posterior Vitreous Detachment and the Posterior Hyaloid Membrane

Retinal detachment in Type IX collagen recessive Stickler syndrome

Stability of the Interface Between Two Immiscible Liquids in a Model Eye Subject to Saccadic Motion

Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol

Stickler Syndrome: Airway Complications in a Case Series of 502 Patients

From First to Second: How Stickler’s Diagnostic Genetics Has Evolved to Match Sequencing Technologies

Prevention of Retinal Detachment in Stickler Syndrome

Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome

A SIMPLE, INEXPENSIVE LASSO FOR INTRAOCULAR FOREIGN BODY EXTRACTION

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1

Peripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome

Single-Port Vitrectomy and “Oleodelamination” for the Management of Retinal Detachment Complicated by Proliferative Vitreoretinopathy

Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss

Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment

Stickler syndrome: further mutations in COL11A1 and evidence for additional locus heterogeneity

High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1

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