Annie McNinch Selected Research

type 1 Stickler syndrome

1/2022	Dominant Stickler Syndrome.
1/2020	Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.
1/2019	Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.
1/2019	Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.
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.

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Annie McNinch Research Topics

Disease

6	type 1 Stickler syndrome 01/2022 - 06/2010
2	type 2 Stickler syndrome 07/2021 - 01/2020
1	Retinal Perforations 01/2020
1	Hearing Loss (Hearing Impairment) 01/2020
1	Atrophy 01/2020
1	Fibrochondrogenesis 01/2020
1	Microphthalmos 01/2019
1	Cakut 01/2019
1	Anophthalmos (Anophthalmia) 01/2019
1	Vitreous Detachment (Posterior Vitreous Detachment) 01/2018

Drug/Important Bio-Agent (IBA)

3	CollagenIBA 07/2021 - 06/2010
2	Proteins (Proteins, Gene)FDA Link 01/2022 - 01/2018
2	Collagen Type XIIBA 01/2022 - 01/2020
2	DNA (Deoxyribonucleic Acid)IBA 01/2020 - 01/2019
2	Collagen Type IXIBA 01/2019 - 11/2013
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2020
1	Retinaldehyde (Retinal)IBA 01/2020
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 01/2019
1	Bone Morphogenetic Protein 4IBA 01/2019
1	Fibronectins (Fibronectin)IBA 01/2018
1	Laminin (Merosin)IBA 01/2018

Therapy/Procedure

1	Slit Lamp 01/2018