Allan J Richards Selected Research

type 1 Stickler syndrome

1/2022	Dominant Stickler Syndrome.
1/2021	Stickler Syndrome: Airway Complications in a Case Series of 502 Patients.
1/2020	Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.
10/2016	Deep Intronic Sequence Variants in COL2A1 Affect the Alternative Splicing Efficiency of Exon 2, and May Confer a Risk for Rhegmatogenous Retinal Detachment.
8/2014	Prevention of retinal detachment in Stickler syndrome: the Cambridge prophylactic cryotherapy protocol.
11/2013	Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.
6/2010	Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.
1/2008	Retinal detachment and prophylaxis in type 1 Stickler syndrome.
6/2007	Missense and silent mutations in COL2A1 result in Stickler syndrome but via different molecular mechanisms.
7/2006	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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Allan J Richards Research Topics

Disease

11	type 1 Stickler syndrome 01/2022 - 01/2003
4	Retinal Perforations 01/2020 - 09/2007
3	Retinal Detachment (Retinal Detachments) 10/2016 - 09/2007
1	Hearing Loss (Hearing Impairment) 01/2020
1	type 2 Stickler syndrome 01/2020
1	Fibrochondrogenesis 01/2020
1	Atrophy 01/2020
1	Lens Subluxation 09/2007
1	Cataract (Cataracts) 09/2007
1	Coloboma (Colobomas) 09/2007
1	Myopia 09/2007
1	Developmental Bone Diseases (Bone Dysplasia) 09/2007
1	Autosomal Dominant Rhegmatogenous Retinal Detachment 02/2005

Drug/Important Bio-Agent (IBA)

3	Retinaldehyde (Retinal)IBA 01/2020 - 01/2008
3	Collagen Type II (Type II Collagen)IBA 10/2016 - 06/2007
2	Collagen Type XIIBA 01/2022 - 01/2020
2	CollagenIBA 06/2010 - 07/2006
1	Proteins (Proteins, Gene)FDA Link 01/2022
1	Anesthetics (Anesthetic Agents)IBA 01/2021
1	DNA (Deoxyribonucleic Acid)IBA 01/2020
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2020
1	Collagen Type IXIBA 11/2013
1	Nonsense Codon (Nonsense Mutation)IBA 06/2007
1	Messenger RNA (mRNA)IBA 02/2005

Therapy/Procedure

2	Cryotherapy (Therapy, Cold) 08/2014 - 01/2008
1	General Anesthesia 01/2021
1	Lenses 09/2007
1	Antibiotic Prophylaxis 01/2003