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Maria van Genderen
Maria van Genderen
Other namesM van Genderen, MM van Genderen
Hoogleraar oogheelkunde, Universiteit Utrecht
Verified email at bartimeus.nl
Title
Cited by
Cited by
Year
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness
MM van Genderen, MMC Bijveld, YB Claassen, RJ Florijn, JN Pearring, ...
The American Journal of Human Genetics 85 (5), 730-736, 2009
2532009
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram
C Zeitz, M van Genderen, J Neidhardt, UFO Luhmann, F Hoeben, ...
Investigative ophthalmology & visual science 46 (11), 4328-4335, 2005
1832005
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
S Kohl, F Coppieters, F Meire, S Schaich, S Roosing, C Brennenstuhl, ...
The American Journal of Human Genetics 91 (3), 527-532, 2012
1682012
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness
NS Peachey, TA Ray, R Florijn, LB Rowe, T Sjoerdsma, ...
The American Journal of Human Genetics 90 (2), 331-339, 2012
1582012
Clinical course, genetic etiology, and visual outcome in cone and cone–rod dystrophy
AAHJ Thiadens, TML Phan, RC Zekveld-Vroon, BP Leroy, ...
Ophthalmology 119 (4), 819-826, 2012
1362012
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
MM van Genderen, GF Kinds, FCC Riemslag, RCM Hennekam
British journal of ophthalmology 84 (10), 1177-1184, 2000
1252000
Genotype and phenotype of 101 dutch patients with congenital stationary night blindness
MMC Bijveld, RJ Florijn, AAB Bergen, LI van den Born, M Kamermans, ...
Ophthalmology 120 (10), 2072-2081, 2013
1152013
Homozygosity mapping in patients with cone–rod dystrophy: novel mutations and clinical characterizations
KW Littink, RK Koenekoop, LI van den Born, RWJ Collin, L Moruz, ...
Investigative ophthalmology & visual science 51 (11), 5943-5951, 2010
1152010
Changes in causes of low vision between 1988 and 2009 in a Dutch population of children
N Boonstra, H Limburg, N Tijmes, M van Genderen, J Schuil, ...
Acta ophthalmologica 90 (3), 277-286, 2012
1112012
The phenotypic spectrum of albinism
CC Kruijt, GC de Wit, AA Bergen, RJ Florijn, NE Schalij-Delfos, ...
Ophthalmology 125 (12), 1953-1960, 2018
992018
Genotypic and phenotypic characteristics of CRB1-associated retinal dystrophies: a long-term follow-up study
M Talib, MJ van Schooneveld, MM van Genderen, J Wijnholds, RJ Florijn, ...
Ophthalmology 124 (6), 884-895, 2017
992017
Diagnosing cerebral visual impairment in children with good visual acuity
M van Genderen, M Dekker, F Pilon, I Bals
Strabismus 20 (2), 78-83, 2012
962012
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism
JA Poulter, M Al-Araimi, I Conte, MM Van Genderen, E Sheridan, IM Carr, ...
The American Journal of Human Genetics 93 (6), 1143-1150, 2013
862013
A Novel Homozygous Nonsense Mutation in CABP4 Causes Congenital Cone–Rod Synaptic Disorder
KW Littink, MM van Genderen, RWJ Collin, S Roosing, APM de Brouwer, ...
Investigative ophthalmology & visual science 50 (5), 2344-2350, 2009
822009
Chiasmal misrouting and foveal hypoplasia without albinism
MM van Genderen, FCC Riemslag, J Schuil, FP Hoeben, JS Stilma, ...
British journal of ophthalmology 90 (9), 1098-1102, 2006
692006
Development of refractive errors—what can we learn from inherited retinal dystrophies?
M Hendriks, VJM Verhoeven, GHS Buitendijk, JR Polling, ...
American Journal of Ophthalmology 182, 81-89, 2017
682017
A clinical and molecular characterisation of CRB1-associated maculopathy
KN Khan, A Robson, OAR Mahroo, G Arno, CF Inglehearn, M Armengol, ...
European Journal of Human Genetics 26 (5), 687-694, 2018
672018
Clinical and genetic characteristics of male patients with RPGR-associated retinal dystrophies: a long-term follow-up study
M Talib, MJ Van Schooneveld, AA Thiadens, M Fiocco, J Wijnholds, ...
Retina 39 (6), 1186-1199, 2019
662019
Genotyping microarray for CSNB-associated genes
C Zeitz, B Lorenz, U Forster, J Üksti, HY Kroes, E De Baere, BP Leroy, ...
Investigative ophthalmology & visual science 50 (12), 5919-5926, 2009
612009
A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population
S Yzer, LI Van Den Born, J Schuil, HY Kroes, MM Van Genderen, ...
Journal of medical genetics 40 (9), 709-713, 2003
592003
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