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Items: 1 to 20 of 41

1.

Peripapillary Sparing in Autosomal Recessive Bestrophinopathy.

Birtel J, Gliem M, Herrmann P, MacLaren RE, Bolz HJ, Charbel Issa P.

Ophthalmol Retina. 2020 Mar 5. pii: S2468-6530(19)30672-4. doi: 10.1016/j.oret.2019.12.008. [Epub ahead of print]

PMID:
32147488
2.

Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.

Birtel J, Gliem M, Hess K, Birtel TH, Holz FG, Zechner U, Bolz HJ, Herrmann P.

Genes (Basel). 2020 Jan 28;11(2). pii: E137. doi: 10.3390/genes11020137.

3.

Functional Relevance and Structural Correlates of Near Infrared and Short Wavelength Fundus Autofluorescence Imaging in ABCA4-Related Retinopathy.

Müller PL, Birtel J, Herrmann P, Holz FG, Charbel Issa P, Gliem M.

Transl Vis Sci Technol. 2019 Dec 20;8(6):46. doi: 10.1167/tvst.8.6.46. eCollection 2019 Nov.

4.

Aflibercept for choroidal neovascularizations secondary to pseudoxanthoma elasticum: a prospective study.

Gliem M, Birtel J, Herrmann P, Fimmers R, Berger M, Coch C, Wingen A, Holz FG, Charbel Issa P.

Graefes Arch Clin Exp Ophthalmol. 2020 Feb;258(2):311-318. doi: 10.1007/s00417-019-04551-4. Epub 2019 Dec 20.

PMID:
31863395
5.

IMPAIRED DARK ADAPTATION ASSOCIATED WITH A DISEASED BRUCH MEMBRANE IN PSEUDOXANTHOMA ELASTICUM.

Hess K, Gliem M, Birtel J, Müller P, Hendig D, Andrews C, Murray IJ, Holz FG, Charbel Issa P.

Retina. 2019 Dec 10. doi: 10.1097/IAE.0000000000002689. [Epub ahead of print]

PMID:
31834130
6.

Acute Retinopathy in Pseudoxanthoma Elasticum.

Gliem M, Birtel J, Müller PL, Hendig D, Faust I, Herrmann P, Holz FG, Adamus G, Charbel Issa P.

JAMA Ophthalmol. 2019 Aug 8. doi: 10.1001/jamaophthalmol.2019.2910. [Epub ahead of print] Erratum in: JAMA Ophthalmol. 2019 Aug 29;:.

PMID:
31393536
7.

A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping.

Charbel Issa P, Gliem M, Yusuf IH, Birtel J, Müller PL, Mangold E, Downes SM, MacLaren RE, Betz C, Bolz HJ.

Invest Ophthalmol Vis Sci. 2019 Aug 1;60(10):3388-3397. doi: 10.1167/iovs.18-26415.

PMID:
31387115
8.

Improved Diagnosis of Retinal Laser Injuries Using Near-Infrared Autofluorescence.

De Silva SR, Neffendorf JE, Birtel J, Herrmann P, Downes SM, Patel CK, Hildebrand GD, Gliem M, Charbel Issa P.

Am J Ophthalmol. 2019 Dec;208:87-93. doi: 10.1016/j.ajo.2019.06.001. Epub 2019 Jun 12.

PMID:
31199894
9.

The Ocular Phenotype in Primary Hyperoxaluria Type 1.

Birtel J, Herrmann P, Garrelfs SF, Dulz S, Atiskova Y, Diederen RM, Gliem M, Brinkert F, Holz FG, Boon CJF, Hoppe B, Charbel Issa P.

Am J Ophthalmol. 2019 Oct;206:184-191. doi: 10.1016/j.ajo.2019.04.036. Epub 2019 May 10.

PMID:
31078535
10.

Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.

Birtel J, Gliem M, Oishi A, Müller PL, Herrmann P, Holz FG, Mangold E, Knapp M, Bolz HJ, Charbel Issa P.

Clin Exp Ophthalmol. 2019 Aug;47(6):779-786. doi: 10.1111/ceo.13516. Epub 2019 May 8.

PMID:
30977268
11.

Retinal findings in carriers of monoallelic ABCC6 mutations.

Gliem M, Wieg I, Birtel J, Müller PL, Faust I, Hendig D, Holz FG, Finger RP, Charbel Issa P.

Br J Ophthalmol. 2019 Mar 28. pii: bjophthalmol-2018-313448. doi: 10.1136/bjophthalmol-2018-313448. [Epub ahead of print]

PMID:
30923132
12.

Near-Infrared Autofluorescence in Choroideremia: Anatomic and Functional Correlations.

Birtel J, Salvetti AP, Jolly JK, Xue K, Gliem M, Müller PL, Holz FG, MacLaren RE, Charbel Issa P.

Am J Ophthalmol. 2019 Mar;199:19-27. doi: 10.1016/j.ajo.2018.10.021. Epub 2018 Oct 26.

PMID:
30713139
13.

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.

Birtel J, Gliem M, Mangold E, Müller PL, Holz FG, Neuhaus C, Lenzner S, Zahnleiter D, Betz C, Eisenberger T, Bolz HJ, Charbel Issa P.

PLoS One. 2018 Dec 13;13(12):e0207958. doi: 10.1371/journal.pone.0207958. eCollection 2018.

14.

Comparison of Green Versus Blue Fundus Autofluorescence in ABCA4-Related Retinopathy.

Müller PL, Pfau M, Mauschitz MM, Möller PT, Birtel J, Chang P, Gliem M, Schmitz-Valckenberg S, Fleckenstein M, Holz FG, Herrmann P.

Transl Vis Sci Technol. 2018 Oct 1;7(5):13. doi: 10.1167/tvst.7.5.13. eCollection 2018 Sep.

15.

Retinal imaging including optical coherence tomography angiography for detecting active choroidal neovascularization in pseudoxanthoma elasticum.

Birtel J, Lindner M, Mishra DK, Müller PL, Hendig D, Herrmann P, Holz FG, Fleckenstein M, Gliem M, Charbel Issa P.

Clin Exp Ophthalmol. 2019 Mar;47(2):240-249. doi: 10.1111/ceo.13385. Epub 2018 Nov 14.

PMID:
30168640
16.

Mesopic and dark-adapted two-color fundus-controlled perimetry in patients with cuticular, reticular, and soft drusen.

Pfau M, Lindner M, Gliem M, Steinberg JS, Thiele S, Finger RP, Fleckenstein M, Holz FG, Schmitz-Valckenberg S.

Eye (Lond). 2018 Dec;32(12):1819-1830. doi: 10.1038/s41433-018-0183-3. Epub 2018 Aug 1.

17.

Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa.

Charbel Issa P, Reuter P, Kühlewein L, Birtel J, Gliem M, Tropitzsch A, Whitcroft KL, Bolz HJ, Ishihara K, MacLaren RE, Downes SM, Oishi A, Zrenner E, Kohl S, Hummel T.

JAMA Ophthalmol. 2018 Jul 1;136(7):761-769. doi: 10.1001/jamaophthalmol.2018.1621.

18.

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Birtel J, Eisenberger T, Gliem M, Müller PL, Herrmann P, Betz C, Zahnleiter D, Neuhaus C, Lenzner S, Holz FG, Mangold E, Bolz HJ, Charbel Issa P.

Sci Rep. 2018 Mar 19;8(1):4824. doi: 10.1038/s41598-018-22096-0.

19.

Carotid strain measurement in patients with pseudoxanthoma elasticum - Hint for a different pathomechanism?

Passon SG, Küllmar V, Blatzheim AK, Pausewang KS, Stumpf MJ, Hendig D, Gliem M, Pingel S, Schueler R, Skowasch D, Schahab N, Nickenig G, Schaefer CA.

Intractable Rare Dis Res. 2018 Feb;7(1):25-31. doi: 10.5582/irdr.2018.01004.

20.

Quantitative Fundus Autofluorescence in Pseudoxanthoma Elasticum.

Gliem M, Müller PL, Birtel J, McGuinness MB, Finger RP, Herrmann P, Hendig D, Holz FG, Charbel Issa P.

Invest Ophthalmol Vis Sci. 2017 Dec 1;58(14):6159-6165. doi: 10.1167/iovs.17-22007.

PMID:
29214314

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