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Items: 1 to 20 of 59

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.

Update of a classic.

Bolz HJ.

Eur J Hum Genet. 2019 Nov 21. doi: 10.1038/s41431-019-0544-9. [Epub ahead of print] No abstract available.

PMID:
31754266
4.

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene.

Oziębło D, Sarosiak A, Leja ML, Budde BS, Tacikowska G, Di Donato N, Bolz HJ, Nürnberg P, Skarżyński H, Ołdak M.

J Transl Med. 2019 Oct 26;17(1):351. doi: 10.1186/s12967-019-2099-5.

5.

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
6.

Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.

Preising MN, Görg B, Friedburg C, Qvartskhava N, Budde BS, Bonus M, Toliat MR, Pfleger C, Altmüller J, Herebian D, Beyer M, Zöllner HJ, Wittsack HJ, Schaper J, Klee D, Zechner U, Nürnberg P, Schipper J, Schnitzler A, Gohlke H, Lorenz B, Häussinger D, Bolz HJ.

FASEB J. 2019 Oct;33(10):11507-11527. doi: 10.1096/fj.201900914RR. Epub 2019 Jul 25.

PMID:
31345061
7.

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
8.

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.

9.

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.

10.

Reply to "Between SCA5 and SCAR14: delineation of the SPTBN2 p.R480W-associated phenotype" by Nuovo et al.

Bolz HJ.

Eur J Hum Genet. 2018 Jul;26(7):930. doi: 10.1038/s41431-018-0162-y. Epub 2018 May 25. No abstract available.

11.

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.

12.

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.

Zaki M, Thoenes M, Kawalia A, Nürnberg P, Kaiser R, Heller R, Bolz HJ.

Front Genet. 2017 Sep 22;8:130. doi: 10.3389/fgene.2017.00130. eCollection 2017.

13.

Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.

Neuhaus C, Eisenberger T, Decker C, Nagl S, Blank C, Pfister M, Kennerknecht I, Müller-Hofstede C, Charbel Issa P, Heller R, Beck B, Rüther K, Mitter D, Rohrschneider K, Steinhauer U, Korbmacher HM, Huhle D, Elsayed SM, Taha HM, Baig SM, Stöhr H, Preising M, Markus S, Moeller F, Lorenz B, Nagel-Wolfrum K, Khan AO, Bolz HJ.

Mol Genet Genomic Med. 2017 Jul 6;5(5):531-552. doi: 10.1002/mgg3.312. eCollection 2017 Sep.

14.

Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.

Birtel J, Gliem M, Mangold E, Tebbe L, Spier I, Müller PL, Holz FG, Neuhaus C, Wolfrum U, Bolz HJ, Charbel Issa P.

Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3950-3959. doi: 10.1167/iovs.17-21679.

PMID:
28785766
15.

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula.

Khan AO, Becirovic E, Betz C, Neuhaus C, Altmüller J, Maria Riedmayr L, Motameny S, Nürnberg G, Nürnberg P, Bolz HJ.

Sci Rep. 2017 May 3;7(1):1411. doi: 10.1038/s41598-017-01577-8.

16.

A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy.

Khan AO, Lenzner S, Bolz HJ.

Ophthalmic Genet. 2017 Jul-Aug;38(4):380-382. doi: 10.1080/13816810.2016.1217551. Epub 2016 Sep 26.

PMID:
27668459
17.

Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations).

Khan AO, Bolz HJ.

Ophthalmic Genet. 2016 Sep;37(3):301-6. doi: 10.3109/13816810.2015.1071411. Epub 2016 Feb 17.

PMID:
26885695
18.

C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.

Khan AO, Decker E, Bachmann N, Bolz HJ, Bergmann C.

Ophthalmic Genet. 2016 Sep;37(3):290-3. doi: 10.3109/13816810.2015.1066830. Epub 2016 Feb 8.

PMID:
26854863
19.

Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study.

Müller PL, Gliem M, Mangold E, Bolz HJ, Finger RP, McGuinness M, Betz C, Jiang Z, Weber BH, MacLaren RE, Holz FG, Radu RA, Charbel Issa P.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8179-86. doi: 10.1167/iovs.15-17629.

20.

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.

Sergouniotis PI, McKibbin M, Robson AG, Bolz HJ, De Baere E, Müller PL, Heller R, El-Asrag ME, Van Schil K, Plagnol V, Toomes C; Uk Inherited Retinal Disease Consortium, Ali M, Holder GE, Charbel Issa P, Leroy BP, Inglehearn CF, Webster AR.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8083-90. doi: 10.1167/iovs.15-17604.

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