Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 34

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.

Oxalobacter formigenes treatment combined with intensive dialysis lowers plasma oxalate and halts disease progression in a patient with severe infantile oxalosis.

Pape L, Ahlenstiel-Grunow T, Birtel J, Krohne TU, Hoppe B.

Pediatr Nephrol. 2020 Feb 27. doi: 10.1007/s00467-019-04463-9. [Epub ahead of print]

PMID:
32107618
3.

Gene Therapy Approaches to a Rare Retinal Disease: Choroideremia.

Birtel J, Holz FG, Herrmann P.

Dtsch Arztebl Int. 2020 Jan 17;117(3):30. doi: 10.3238/arztebl.2020.0030. No abstract available.

4.

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.

5.

PROGRESSION OF ABCA4-RELATED RETINOPATHY-PROGNOSTIC VALUE OF DEMOGRAPHIC, FUNCTIONAL, GENETIC, AND IMAGING PARAMETERS.

Müller PL, Pfau M, Treis T, Pascual-Camps I, Birtel J, Lindner M, Herrmann P, Holz FG.

Retina. 2020 Jan 8. doi: 10.1097/IAE.0000000000002747. [Epub ahead of print]

PMID:
31917732
6.

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.

7.

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
8.

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
9.

HYPERREFLECTIVE FOCI AS A PATHOGENETIC BIOMARKER IN CHOROIDEREMIA.

Romano F, Arrigo A, MacLaren RE, Charbel Issa P, Birtel J, Bandello F, Battaglia Parodi M.

Retina. 2019 Nov 28. doi: 10.1097/IAE.0000000000002645. [Epub ahead of print]

PMID:
31800458
10.

Clinical Characterization of Retinitis Pigmentosa Associated With Variants in SNRNP200.

Yusuf IH, Birtel J, Shanks ME, Clouston P, Downes SM, Charbel Issa P, MacLaren RE.

JAMA Ophthalmol. 2019 Sep 5. doi: 10.1001/jamaophthalmol.2019.3298. [Epub ahead of print]

PMID:
31486839
11.

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
12.

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
13.

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
14.

Clinical and Molecular Characterization of PROM1-Related Retinal Degeneration.

Cehajic-Kapetanovic J, Birtel J, McClements ME, Shanks ME, Clouston P, Downes SM, Charbel Issa P, MacLaren RE.

JAMA Netw Open. 2019 Jun 5;2(6):e195752. doi: 10.1001/jamanetworkopen.2019.5752.

15.

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
16.

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
17.

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
18.

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
19.

Spectrally Resolved Fundus Autofluorescence in ABCA4-Related Retinopathy.

Dysli C, Müller PL, Birtel J, Holz FG, Herrmann P.

Invest Ophthalmol Vis Sci. 2019 Jan 2;60(1):274-281. doi: 10.1167/iovs.18-25755.

PMID:
30657522
20.

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.

Supplemental Content

Loading ...
Support Center