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Scleral buckling—a brief historical overview and current indications

Graefe's archive for clinical and experimental ophthalmology, 2020-03, Vol.258 (3), p.467-478

2020

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Prevention of Blindness in Stickler Syndrome

Genes, 2022-06, Vol.13 (7), p.1150

2022

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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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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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Dominant Stickler Syndrome

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

2022

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Autosomal Recessive Stickler Syndrome

Genes, 2022-06, Vol.13 (7), p.1135

2022

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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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Retinal detachment risk in the fellow eyes of patients presenting with retinal tears in more than two quadrants

British journal of ophthalmology, 2024-05, Vol.108 (5), p.770-772

2024

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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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Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1354-n/a

2020

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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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Retinal detachment in Loeys–Dietz syndrome

American journal of medical genetics. Part A, 2023-03, Vol.191 (3), p.846-849

2023

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Posterior vitreous detachment in absentia

Eye (London), 2023-02, Vol.37 (3), p.388-390

2023

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Ophthalmic manifestations of Czech dysplasia

American journal of medical genetics. Part A, 2024-04, Vol.194 (4), p.e63480-n/a

2024

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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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Posterior vitreous detachment and retinal tear - a prospective study of community referrals

Eye (London), 2024-03, Vol.38 (4), p.786-791

2024

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Cambridge Prophylactic Protocol, Retinal Detachment, and Stickler Syndrome

The New England journal of medicine, 2023-04, Vol.388 (14), p.1337-1339

2023

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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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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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Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotype

American journal of medical genetics. Part A, 2019-08, Vol.179 (8), p.1498-1506

2019

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

European journal of human genetics : EJHG, 2019-03, Vol.27 (3), p.369-377

2019

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Re: Baumgarten et al.: Vitrectomy with and without encircling band for pseudophakic retinal detachment with inferior breaks: VIPER Study Report No. 3. Graefes Arch Clin Exp Ophthalmol. 2018 Nov;256(11):2069–2073. doi: 10.1007/s00417-018-4106-6. Epub 2018 Aug 23

Graefe's archive for clinical and experimental ophthalmology, 2019-04, Vol.257 (4), p.843-843

2019

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Scleral buckling—a brief historical overview and current indications

Prevention of Blindness in Stickler Syndrome

Molecular Basis of Pathogenic Variants in the Fibrillar Collagens

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

Dominant Stickler Syndrome

Autosomal Recessive Stickler Syndrome

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

Retinal detachment risk in the fellow eyes of patients presenting with retinal tears in more than two quadrants

Clinical and molecular genetics of Stickler syndrome

Retinal Detachment and Prophylaxis in Type 1 Stickler Syndrome

Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

Somatic mosaicism and the phenotypic expression of COL2A1 mutations

Retinal detachment in Loeys–Dietz syndrome

Posterior vitreous detachment in absentia

Ophthalmic manifestations of Czech dysplasia

Refinements in the use of silicone oil as an intraocular tamponade

Posterior vitreous detachment and retinal tear - a prospective study of community referrals

Cambridge Prophylactic Protocol, Retinal Detachment, and Stickler Syndrome

Posterior Vitreous Detachment and the Posterior Hyaloid Membrane

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

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotype

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

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

Re: Baumgarten et al.: Vitrectomy with and without encircling band for pseudophakic retinal detachment with inferior breaks: VIPER Study Report No. 3. Graefes Arch Clin Exp Ophthalmol. 2018 Nov;256(11):2069–2073. doi: 10.1007/s00417-018-4106-6. Epub 2018 Aug 23

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