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Number of items: 22.

Journal Article

Bifari, Inam N., Elkhamary, Sahar M., Bolz, Hanno J. and Khan, Arif O. (2016). The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy. Br. J. Ophthalmol., 100 (6). S. 829 - 834. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2079

Birtel, Johannes, Eisenberger, Tobias, Gliem, Martin, Mueller, Philipp L., Herrmann, Philipp, Betz, Christian, Zahnleiter, Diana, Neuhaus, Christine, Lenzner, Steffen, Holz, Frank G., Mangold, Elisabeth, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2018). Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Birtel, Johannes, Gliem, Martin, Hess, Kristina, Birtel, Theresa H., Holz, Frank G., Zechner, Ulrich, Bolz, Hanno J. and Herrmann, Philipp (2020). Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies. Genes, 11 (2). BASEL: MDPI. ISSN 2073-4425

Birtel, Johannes, Gliem, Martin, Hess, Kristina, Birtel, Theresa H., Holz, Frank G., Zechner, Ulrich, Bolz, Hanno J. and Herrmann, Philipp (2020). Comprehensive geno- and phenotyping in a complex pedigree including four different inherited retinal dystrophies. Invest. Ophthalmol. Vis. Sci., 61 (7). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Mueller, Philipp L., Holz, Frank G., Neuhaus, Christine, Lenzner, Steffen, Zahnleiter, Diana, Betz, Christian, Eisenberger, Tobias, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2018). Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PLoS One, 13 (12). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Tebbe, Lars, Spier, Isabel, Mueller, Philipp, Holz, Frank G., Neuhaus, Christine, Wolfrum, Uwe, Bolz, Hanno J. and Issa, Peter Charbel (2017). Novel insights in KIF11-related retinopathy. Invest. Ophthalmol. Vis. Sci., 58 (8). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Tebbe, Lars, Spier, Isabel, Muller, Philipp L., Holz, Frank G., Neuhaus, Christine, Wolfruni, Uwe, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2017). Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy. Invest. Ophthalmol. Vis. Sci., 58 (10). S. 3950 - 3960. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Birtel, Johannes, Gliem, Martin, Oishi, Akio ORCID: 0000-0002-0977-9458, Mueller, Philipp L., Herrmann, Philipp, Holz, Frank G., Mangold, Elisabeth, Knapp, Michael, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2019). Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases. Clin. Exp. Ophthalmol., 47 (6). S. 779 - 787. HOBOKEN: WILEY. ISSN 1442-9071

Bolz, Hanno J. (2018). Between SCA5 and SCAR14: delineation of the SPTBN2 p. R480W-associated phenotype Reply. Eur. J. Hum. Genet., 26 (7). S. 930 - 931. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Bolz, Hanno J. (2020). Color Atlas of Genetics, 5th edition. Eur. J. Hum. Genet., 28 (5). S. 691 - 692. LONDON: NATURE PUBLISHING GROUP. ISSN 1476-5438

Issa, Peter Charbel, Gliem, Martin, Yusuf, Imran H., Birtel, Johannes, Mueller, Philipp L., Mangold, Elisabeth, Downes, Susan M., MacLaren, Robert E., Betz, Christian and Bolz, Hanno J. (2019). A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G > A, a Silent Mutation Leading to In-Frame Exon Skipping. Invest. Ophthalmol. Vis. Sci., 60 (10). S. 3388 - 3398. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Reuter, Peggy, Kuhlewein, Laura, Birtel, Johannes, Gliem, Martin, Tropitzsch, Anke, Whitcroft, Katherine L., Bolz, Hanno J., Ishihara, Kenji, MacLaren, Robert E., Downes, Susan M., Oishi, Akio ORCID: 0000-0002-0977-9458, Zrenner, Eberhart, Kohl, Susanne and Hummel, Thomas (2018). Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa. JAMA Ophthalmol., 136 (7). S. 761 - 770. CHICAGO: AMER MEDICAL ASSOC. ISSN 2168-6173

Khan, Arif O., Al Rashaed, Saba, Neuhaus, Christine, Bergmann, Carsten and Bolz, Hanno J. (2016). Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation. Br. J. Ophthalmol., 100 (2). S. 209 - 216. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-2079

Khan, Arif O., Becirovic, Elvir ORCID: 0000-0001-8801-0649, Betz, Christian, Neuhaus, Christine, Altmueller, Janine, Riedmayr, Lisa Maria, Motameny, Susanne, Nuernberg, Gudrun, Nuernberg, Peter and Bolz, Hanno J. (2017). A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula. Sci Rep, 7. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Khan, Arif O. and Bolz, Hanno J. (2016). Phenotypic observations in hypotrichosis with juvenile macular dystrophy (recessive CDH3 mutations). Ophthalmic Genet., 37 (3). S. 301 - 307. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094

Khan, Arif O., Decker, Eva, Bachmann, Nadine, Bolz, Hanno J. and Bergmann, Carsten (2016). C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. Ophthalmic Genet., 37 (3). S. 290 - 294. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094

Khan, Arif O., Lenzner, Steffen and Bolz, Hanno J. (2017). A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy. Ophthalmic Genet., 38 (4). S. 380 - 383. PHILADELPHIA: TAYLOR & FRANCIS INC. ISSN 1744-5094

Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Mueller-Hofstede, Cornelie, Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Heller, Raoul, Beck, Bodo, Ruether, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stoehr, Heidi, Preising, Markus, Markus, Susanne, Moeller, Fabian, Lorenz, Birgit, Nagel-Wolfrum, Kerstin, Khan, Arif O. and Bolz, Hanno J. (2017). 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. Mol. Genet. Genom. Med., 5 (5). S. 531 - 553. HOBOKEN: WILEY. ISSN 2324-9269

Ozieblo, Dominika ORCID: 0000-0002-3454-8002, Sarosiak, Anna ORCID: 0000-0003-0806-9195, Leja, Marcin L., Budde, Birgit S., Tacikowska, Grazyna ORCID: 0000-0002-5570-7092, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Bolz, Hanno J., Nurnberg, Peter, Skarzynski, Henryk and Oldak, Monika ORCID: 0000-0002-4216-9141 (2019). First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene. J. Transl. Med., 17 (1). LONDON: BMC. ISSN 1479-5876

Preising, Markus N., Goerg, Boris, Friedburg, Christoph, Qvartskhava, Natalia, Budde, Birgit S., Bonus, Michele, Toliat, Mohammad R., Pfleger, Christopher, Altmueller, Janine, Herebian, Diran ORCID: 0000-0002-8528-0122, Beyer, Mila, Zoellner, Helge J., Wittsack, Hans-Joerg, Schaper, Joerg, Klee, Dirk, Zechner, Ulrich, Nuernberg, Peter, Schipper, Joerg, Schnitzler, Alfons, Gohlke, Holger, Lorenz, Birgit ORCID: 0000-0002-9737-8127, Haeussinger, Dieter and Bolz, Hanno J. (2019). Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration. Faseb J., 33 (10). S. 11507 - 11528. BETHESDA: FEDERATION AMER SOC EXP BIOL. ISSN 1530-6860

Zaki, Maha ORCID: 0000-0001-7840-0002, Thoenes, Michaela, Kawalia, Amit, Nuernberg, Peter, Kaiser, Rolf, Heller, Raoul and Bolz, Hanno J. (2017). Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation. Front. Genet., 8. LAUSANNE: FRONTIERS MEDIA SA. ISSN 1664-8021

Zaki, Maha S., Heller, Raoul, Thoenes, Michaela, Nuernberg, Gudrun, Stern-Schneider, Gabi, Nuernberg, Peter, Karnati, Srikanth ORCID: 0000-0001-9083-2916, Swan, Daniel ORCID: 0000-0001-8978-8129, Fateen, Ekram ORCID: 0000-0002-0777-0417, Nagel-Wolfrum, Kerstin, Mostafa, Mostafa I., Thiele, Holger, Wolfrum, Uwe, Baumgart-Vogt, Eveline ORCID: 0000-0002-8265-3763 and Bolz, Hanno J. (2016). PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly. Hum. Mutat., 37 (2). S. 170 - 175. HOBOKEN: WILEY. ISSN 1098-1004

This list was generated on Thu Feb 25 02:36:14 2021 CET.