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Best matches for Maria M. Van Genderen:

Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study. Talib M et al. Ophthalmology. (2017)

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Thiadens AA et al. Ophthalmology. (2012)

The Phenotypic Spectrum of Albinism. Kruijt CC et al. Ophthalmology. (2018)

Search results

Items: 1 to 20 of 33

1.

Prolonged cone b-wave on electroretinography is associated with severity of inflammation in non-infectious uveitis.

Brouwer AH, de Wit GC, Ten Dam NH, Wijnhoven R, van Genderen MM, de Boer JH.

Am J Ophthalmol. 2019 Jun 4. pii: S0002-9394(19)30261-2. doi: 10.1016/j.ajo.2019.05.028. [Epub ahead of print]

PMID:
31173740
2.

The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.

Verbakel SK, Fadaie Z, Klevering BJ, van Genderen MM, Feenstra I, Cremers FPM, Hoyng CB, Roosing S.

Mol Genet Genomic Med. 2019 Jun;7(6):e660. doi: 10.1002/mgg3.660. Epub 2019 Apr 4.

3.

Electroretinogram abnormalities in nonanterior childhood uveitis.

Brouwer AH, van Genderen MM, de Wit GC, de Boer JH.

Acta Ophthalmol. 2019 Jun;97(4):372-377. doi: 10.1111/aos.13923. Epub 2018 Sep 14.

PMID:
30218484
4.

The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene.

Talib M, van Schooneveld MJ, Van Cauwenbergh C, Wijnholds J, Ten Brink JB, Florijn RJ, Schalij-Delfos NE, Dagnelie G, van Genderen MM, De Baere E, Meester-Smoor MA, De Zaeytijd J, Cremers FPM, van den Born LI, Thiadens AA, Hoyng CB, Klaver CC, Leroy BP, Bergen AA, Boon CJF.

Invest Ophthalmol Vis Sci. 2018 Aug 1;59(10):4123-4133. doi: 10.1167/iovs.17-23453.

PMID:
30105367
5.

The Phenotypic Spectrum of Albinism.

Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM.

Ophthalmology. 2018 Dec;125(12):1953-1960. doi: 10.1016/j.ophtha.2018.08.003. Epub 2018 Aug 8.

PMID:
30098354
6.

CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study.

Talib M, van Schooneveld MJ, Thiadens AA, Fiocco M, Wijnholds J, Florijn RJ, Schalij-Delfos NE, van Genderen MM, Putter H, Cremers FPM, Dagnelie G, Ten Brink JB, Klaver CCW, van den Born LI, Hoyng CB, Bergen AA, Boon CJF.

Retina. 2019 Jun;39(6):1186-1199. doi: 10.1097/IAE.0000000000002125.

PMID:
29528978
7.

Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68.

Littink KW, Stappers PTY, Riemslag FCC, Talsma HE, van Genderen MM, Cremers FPM, Collin RWJ, van den Born LI.

Genes (Basel). 2018 Mar 7;9(3). pii: E145. doi: 10.3390/genes9030145.

8.

Timing of cognitive decline in CLN3 disease.

Kuper WFE, van Alfen C, Rigterink RH, Fuchs SA, van Genderen MM, van Hasselt PM.

J Inherit Metab Dis. 2018 Mar;41(2):257-261. doi: 10.1007/s10545-018-0143-x. Epub 2018 Feb 1.

9.

A clinical and molecular characterisation of CRB1-associated maculopathy.

Khan KN, Robson A, Mahroo OAR, Arno G, Inglehearn CF, Armengol M, Waseem N, Holder GE, Carss KJ, Raymond LF, Webster AR, Moore AT, McKibbin M, van Genderen MM, Poulter JA, Michaelides M; UK Inherited Retinal Disease Consortium.

Eur J Hum Genet. 2018 May;26(5):687-694. doi: 10.1038/s41431-017-0082-2. Epub 2018 Feb 1.

10.

Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome.

Littink KW, Stappers PTY, Riemslag FCC, Talsma HE, van Genderen MM, Cremers FPM, Collin RWJ, van den Born LI.

Genes (Basel). 2018 Jan 30;9(2). pii: E68. doi: 10.3390/genes9020068. Erratum in: Genes (Basel). 2018 Mar 07;9(3):.

11.

A Case of Unexpected Adult-Onset Neurologic Decline in CLN3-Associated Retinal Degeneration.

Kuper WFE, van Alfen C, van Eck L, van den Broek BTA, Huisman A, van Genderen MM, van Hasselt PM.

JAMA Ophthalmol. 2017 Dec 1;135(12):1451-1453. doi: 10.1001/jamaophthalmol.2017.4353. No abstract available.

PMID:
29049447
12.

Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study.

Talib M, van Schooneveld MJ, van Genderen MM, Wijnholds J, Florijn RJ, Ten Brink JB, Schalij-Delfos NE, Dagnelie G, Cremers FPM, Wolterbeek R, Fiocco M, Thiadens AA, Hoyng CB, Klaver CC, Bergen AA, Boon CJF.

Ophthalmology. 2017 Jun;124(6):884-895. doi: 10.1016/j.ophtha.2017.01.047. Epub 2017 Mar 21.

PMID:
28341475
13.

Retinal Dystrophy in 6 Young Patients Who Presented with Intermediate Uveitis.

Hettinga YM, van Genderen MM, Wieringa W, Ossewaarde-van Norel J, de Boer JH.

Ophthalmology. 2016 Sep;123(9):2043-6. doi: 10.1016/j.ophtha.2016.03.046. Epub 2016 May 4. No abstract available.

PMID:
27157150
14.

Quantification of visual function assessment using remote eye tracking in children: validity and applicability.

Kooiker MJ, Pel JJ, Verbunt HJ, de Wit GC, van Genderen MM, van der Steen J.

Acta Ophthalmol. 2016 Sep;94(6):599-608. doi: 10.1111/aos.13038. Epub 2016 Apr 30.

15.

The RD5000 database: facilitating clinical, genetic, and therapeutic studies on inherited retinal diseases.

van Huet RA, Oomen CJ, Plomp AS, van Genderen MM, Klevering BJ, Schlingemann RO, Klaver CC, van den Born LI, Cremers FP; RD5000 Study Group.

Invest Ophthalmol Vis Sci. 2014 Nov 17;55(11):7355-60. doi: 10.1167/iovs.14-15317. Review.

PMID:
25404643
16.

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis.

Siemiatkowska AM, van den Born LI, van Genderen MM, Bertelsen M, Zobor D, Rohrschneider K, van Huet RA, Nurohmah S, Klevering BJ, Kohl S, Faradz SM, Rosenberg T, den Hollander AI, Collin RW, Cremers FP.

Mol Vis. 2014 Jun 2;20:753-9. eCollection 2014.

17.

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C.

Am J Hum Genet. 2013 Dec 5;93(6):1143-50. doi: 10.1016/j.ajhg.2013.11.002. Epub 2013 Nov 27. Review.

18.

A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1.

Al-Araimi M, Pal B, Poulter JA, van Genderen MM, Carr I, Cudrnak T, Brown L, Sheridan E, Mohamed MD, Bradbury J, Ali M, Inglehearn CF, Toomes C.

Mol Vis. 2013 Nov 1;19:2165-72. eCollection 2013.

19.

Ultrastructural localization of GPR179 and the impact of mutant forms on retinal function in CSNB1 patients and a mouse model.

Klooster J, van Genderen MM, Yu M, Florijn RJ, Riemslag FC, Bergen AA, Gregg RG, Peachey NS, Kamermans M.

Invest Ophthalmol Vis Sci. 2013 Oct 23;54(10):6973-81. doi: 10.1167/iovs.13-12293.

20.

Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.

Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM.

Ophthalmology. 2013 Oct;120(10):2072-81. doi: 10.1016/j.ophtha.2013.03.002. Epub 2013 May 25.

PMID:
23714322

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