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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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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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Molecular Basis of Pathogenic Variants in the Fibrillar Collagens

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

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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Dominant Stickler Syndrome

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

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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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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Autosomal Recessive Stickler Syndrome

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

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 Visual Arts Education pedagogical approach for enhancing quality of life for persons with dementia (innovative practice)

Dementia (London, England), 2020-05, Vol.19 (4), p.1244-1251

2020

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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 and Prophylaxis in Type 1 Stickler Syndrome

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

2008

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Peripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome

Ophthalmology retina, 2024-05

2024

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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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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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Visual Arts Education improves self-esteem for persons with dementia and reduces caregiver burden: A randomized controlled trial

Dementia (London, England), 2019-11, Vol.18 (7-8), p.3130-3142

2019

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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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Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment

Human mutation, 2016-10, Vol.37 (10), p.1085-1096

2016

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PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases

American journal of medical genetics. Part A, 2019-09, Vol.179 (9), p.1884-1894

2019

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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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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Nature genetics, 2000-06, Vol.25 (2), p.223-227

2000

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Bilateral giant retinal tears in Osteogenesis Imperfecta

BMC medical genetics, 2018-01, Vol.19 (1), p.8-8, Article 8

2018

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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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Clinical characterisation and molecular analysis of Wagner syndrome

British journal of ophthalmology, 2007-05, Vol.91 (5), p.655-659

2007

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Ophthalmic manifestations of Czech dysplasia

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

Molecular Basis of Pathogenic Variants in the Fibrillar Collagens

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

Dominant Stickler Syndrome

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

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

Autosomal Recessive Stickler Syndrome

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 Visual Arts Education pedagogical approach for enhancing quality of life for persons with dementia (innovative practice)

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

Retinal Detachment and Prophylaxis in Type 1 Stickler Syndrome

Peripapillary Hyperreflective Ovoid Mass-Like Structures in Stickler Syndrome

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

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

Visual Arts Education improves self-esteem for persons with dementia and reduces caregiver burden: A randomized controlled trial

Somatic mosaicism and the phenotypic expression of COL2A1 mutations

Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment

PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases

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

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Bilateral giant retinal tears in Osteogenesis Imperfecta

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

Clinical characterisation and molecular analysis of Wagner syndrome

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