Suivre
Maria van Genderen
Maria van Genderen
Autres nomsM van Genderen, MM van Genderen
Hoogleraar oogheelkunde, Universiteit Utrecht
Adresse e-mail validée de bartimeus.nl
Titre
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Année
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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