Mary J van Schooneveld
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Explore the profile of Mary J van Schooneveld including associated specialties, affiliations and a list of published articles.
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52
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1284
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Recent Articles
11.
Nguyen X, Almushattat H, Strubbe I, Georgiou M, Li C, van Schooneveld M, et al.
Genes (Basel)
. 2021 Sep;
12(9).
PMID: 34573385
This study investigated the phenotypic spectrum of PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and early-onset cataract) syndrome caused by biallelic variants in the gene. A total of 15 patients...
12.
Runhart E, Dhooge P, Meester-Smoor M, Pas J, Pott J, van Leeuwen R, et al.
Acta Ophthalmol
. 2021 Aug;
100(4):395-402.
PMID: 34431609
Purpose: To assess the incidence of Stargardt disease (STGD1) and to evaluate demographics of incident cases. Methods: For this retrospective cohort study, demographic, clinical and genetic data of patients with...
13.
Nguyen X, Talib M, van Schooneveld M, Wijnholds J, van Genderen M, Schalij-Delfos N, et al.
Am J Ophthalmol
. 2021 Jul;
234:37-48.
PMID: 34320374
Purpose: To investigate the natural disease course of retinal dystrophies associated with crumbs cell polarity complex component 1 (CRB1) and identify clinical end points for future clinical trials. Design: Single-center,...
14.
Kohl S, Llavona P, Sauer A, Reuter P, Weisschuh N, Kempf M, et al.
Hum Mol Genet
. 2021 Apr;
30(13):1218-1229.
PMID: 33891002
Cone dystrophies are a rare subgroup of inherited retinal dystrophies and hallmarked by color vision defects, low or decreasing visual acuity and central vision loss, nystagmus and photophobia. Applying genome-wide...
15.
Talib M, van Schooneveld M, Wijnholds J, van Genderen M, Schalij-Delfos N, Talsma H, et al.
Acta Ophthalmol
. 2021 Feb;
99(3):e402-e414.
PMID: 33528094
Purpose: To investigate the retinal structure and function in patients with CRB1-associated retinal dystrophies (RD) and to explore potential clinical endpoints. Methods: In this prospective cross-sectional study, 22 patients with...
16.
Kuper W, Talsma H, van Schooneveld M, Pott J, Huijgen B, de Wit G, et al.
Acta Ophthalmol
. 2020 Oct;
99(4):397-404.
PMID: 33073538
Purpose: To help differentiate CLN3 (Batten) disease, a devastating childhood metabolic disorder, from the similarly presenting early-onset Stargardt disease (STGD1). Early clinical identification of children with CLN3 disease is essential...
17.
Nguyen X, Talib M, Van Cauwenbergh C, van Schooneveld M, Fiocco M, Wijnholds J, et al.
Retina
. 2020 Apr;
41(1):213-223.
PMID: 32301896
Purpose: To investigate the natural history of RHO-associated retinitis pigmentosa (RP). Methods: A multicenter, medical chart review of 100 patients with autosomal dominant RHO-associated RP. Results: Based on visual fields,...
18.
Nguyen X, Talib M, van Schooneveld M, Brinks J, Ten Brink J, Florijn R, et al.
Int J Mol Sci
. 2020 Feb;
21(3).
PMID: 32012938
This study describes the clinical, genetic, and histopathological features in patients with -associated retinal dystrophies. Nine male patients from eight unrelated families underwent a comprehensive ophthalmic examination. Additionally, the histopathology...
19.
Talib M, van Schooneveld M, van Duuren R, Van Cauwenbergh C, Ten Brink J, De Baere E, et al.
Transl Vis Sci Technol
. 2019 Aug;
8(4):24.
PMID: 31448181
Purpose: To investigate the natural history in patients with -associated retinal degenerations (RDs), in the advent of clinical trials testing treatment options. Methods: A retrospective cohort of 13 patients with...
20.
Valkenburg D, Van Cauwenbergh C, Lorenz B, van Genderen M, Bertelsen M, Pott J, et al.
Invest Ophthalmol Vis Sci
. 2018 Sep;
59(11):4384-4391.
PMID: 30193310
Purpose: To describe the phenotypic spectrum of retinal disease caused by the c.2991+1655A>G mutation in CEP290 and to compare disease severity between homozygous and compound heterozygous patients. Methods: Medical records...