Entries of Lorenz, Birgit on the publication server

Li, Jeany Q., Kellner, Ulrich, Lorenz, Birgit, Stahl, Andreas and Krohne, Tim U. (2022) Frühgeborenenretinopathie. Klinische Monatsblätter für Augenheilkunde 239 (03), pp. 346-363. Fulltext not available.

Neuhaus, Christine, Eisenberger, Tobias, Decker, Christian, Nagl, Sandra, Blank, Cornelia, Pfister, Markus, Kennerknecht, Ingo, Müller-Hofstede, Cornelie, Charbel Issa, Peter, Heller, Raoul, Beck, Bodo, Rüther, Klaus, Mitter, Diana, Rohrschneider, Klaus, Steinhauer, Ute, Korbmacher, Heike M., Huhle, Dagmar, Elsayed, Solaf M., Taha, Hesham M., Baig, Shahid M., Stöhr, 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. Molecular Genetics & Genomic Medicine 5 (5), pp. 531-552. Fulltext not available.

Audo, Isabelle , Bujakowska, Kinga , Orhan, Elise, Poloschek, Charlotte M., Defoort-Dhellemmes, Sabine, Drumare, Isabelle, Kohl, Susanne , Luu, Tien D., Lecompte, Odile , Zrenner, Eberhart, Lancelot, Marie-Elise, Antonio, Aline, Germain, Aurore, Michiels, Christelle, Audier, Claire, Letexier, Mélanie, Saraiva, Jean-Paul, Leroy, Bart P., Munier, Francis L., Mohand-Saïd, Saddek, Lorenz, Birgit, Friedburg, Christoph, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Moskova-Doumanova, Veselina, Berger, Wolfgang, Wissinger, Bernd, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride , Sharon, Dror , Banin, Eyal, Jacobson, Samuel G. , Bonneau, Dominique , Zanlonghi, Xavier, Le Meur, Guylene, Casteels, Ingele, Koenekoop, Robert, Long, Vernon W., Meire, Francoise, Prescott, Katrina, de Ravel, Thomy, Simmons, Ian, Nguyen, Hoan, Dollfus, Hélène, Poch, Olivier, Léveillard, Thierry, Nguyen-Ba-Charvet, Kim , Sahel, José-Alain , Bhattacharya, Shomi S. and Zeitz, Christina (2012) Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness. The American Journal of Human Genetics 90 (2), pp. 321-330. Fulltext not available.

Friedburg, Christoph, Wissinger, Bernd, Schambeck, Maria, Bonin, Michael, Kohl, Susanne and Lorenz, Birgit (2011) Long-Term Follow-Up of the Human Phenotype in Three Siblings with Cone Dystrophy Associated with a Homozygousp.G461RMutation ofKCNV2. Investigative Opthalmology & Visual Science 52 (12), p. 8621. Fulltext not available.

Oberacher-Velten, Isabel, Prasser, Christopher, Rochon, Justine, Ittner, Karl-Peter, Helbig, Horst and Lorenz, Birgit (2011) The effects of midazolam on intraocular pressure in children during examination under sedation. British Journal of Ophthalmology 95, pp. 1102-1105.

Wilscher, Stephanie, Wabbels, Bettina and Lorenz, Birgit (2010) Feasibility and outcome of automated kinetic perimetry in children. Graefe's Archive for Clinical and Experimental Ophthalmology 248 (10), pp. 1493-1500. Fulltext not available.

Schatz, Patrik , Preising, Markus, Lorenz, Birgit, Sander, Birgit, Larsen, Michael , Eckstein, Christoph and Rosenberg, Thomas (2010) LACK OF AUTOFLUORESCENCE IN FUNDUS ALBIPUNCTATUS ASSOCIATED WITH MUTATIONS IN RDH5. Retina 30 (10), pp. 1704-1713. Fulltext not available.

Stieger, Knut , Schroeder, Josef, Provost, Nathalie, Mendes-Madeira, Alexandra, Belbellaa, Brahim, Meur, Guylène Le, Weber, Michel, Deschamps, Jack-Yves, Lorenz, Birgit, Moullier, Philippe and Rolling, Fabienne (2009) Detection of Intact rAAV Particles up to 6 Years After Successful Gene Transfer in the Retina of Dogs and Primates. Molecular Therapy 17 (3), pp. 516-523. Fulltext not available.

Preising, Markus N., Wegscheider, Erika, Friedburg, Christoph, Poloschek, Charlotte M., Wabbels, Bettina K. and Lorenz, Birgit (2009) Fundus Autofluorescence in Carriers of Choroideremia and Correlation with Electrophysiologic and Psychophysical Data. Ophthalmology 116 (6), 1201-1209.e2. Fulltext not available.

Audo, Isabelle, Kohl, Susanne , Leroy, Bart P., Munier, Francis L., Guillonneau, Xavier , Mohand-Saïd, Saddek, Bujakowska, Kinga , Nandrot, Emeline F., Lorenz, Birgit, Preising, Markus, Kellner, Ulrich, Renner, Agnes B., Bernd, Antje, Antonio, Aline, Moskova-Doumanova, Veselina, Lancelot, Marie-Elise, Poloschek, Charlotte M., Drumare, Isabelle, Defoort-Dhellemmes, Sabine, Wissinger, Bernd, Léveillard, Thierry, Hamel, Christian P., Schorderet, Daniel F., De Baere, Elfride , Berger, Wolfgang, Jacobson, Samuel G. , Zrenner, Eberhart, Sahel, José-Alain , Bhattacharya, Shomi S. and Zeitz, Christina (2009) TRPM1 Is Mutated in Patients with Autosomal-Recessive Complete Congenital Stationary Night Blindness. The American Journal of Human Genetics 85 (5), pp. 720-729. Fulltext not available.

Lorenz, Birgit, Poliakov, Eugenia, Schambeck, Maria, Friedburg, Christoph, Preising, Markus N. and Redmond, T. Michael (2008) A Comprehensive Clinical and Biochemical Functional Study of a NovelRPE65Hypomorphic Mutation. Investigative Opthalmology & Visual Science 49 (12), p. 5235. Fulltext not available.

Oberacher-Velten, Isabel, Prasser, Christopher and Lorenz, Birgit (2008) Evolution of central corneal thickness in children with congenital glaucoma requiring glaucoma surgery. Graefe's Archive for Clinical and Experimental Ophthalmology 246 (3), pp. 397-403. Fulltext not available.

Greenlee, Mark W. and Tse, Peter U. (2008) 8. Functional neuroanatomy of the human visual system: A review of functional MRI studies. In: Borrurat, François-Xavier and Lorenz, Birgit, (eds.) Pediatric Ophthalmology, Neuro-Ophthalmology, Genetics. Essentials in ophthalmology (8). Springer, New York, Berlin, pp. 119-138. ISBN 3-540-33678-8; 978-3-540-33678-5.

Brinckmann, Anja, Rüther, Klaus, Williamson, Kathleen, Lorenz, Birgit, Lucke, Barbara, Nürnberg, Peter, Trijbels, Frans, Janssen, Antoon and Schuelke, Markus (2007) De novo double mutation in PAX6 and mtDNA tRNA Lys associated with atypical aniridia and mitochondrial disease. Journal of Molecular Medicine 85 (2), pp. 163-168. Fulltext not available.

Wabbels, Bettina, Schroeder, Josef A., Voll, Beate, Siegmund, Heiko and Lorenz, Birgit (2007) Electron microscopic findings in levator muscle biopsies of patients with isolated congenital or acquired ptosis. Graefe's Archive for Clinical and Experimental Ophthalmology 245 (10), pp. 1533-1541. Fulltext not available.

Graw, Jochen , Klopp, Norman, Illig, Thomas, Preising, Markus N. and Lorenz, Birgit (2006) Congenital cataract and macular hypoplasia in humans associated with a de novo mutation in CRYAA and compound heterozygous mutations in P. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv für klinische und experimentelle Ophthalmologie 244 (8), pp. 912-919. Fulltext restricted.

Sisodiya, Sanjay M., Ragge, Nicola K., Cavalleri, Gianpiero L. , Hever, Ann, Lorenz, Birgit, Schneider, Adele, Williamson, Kathleen A., Stevens, John M., Free, Samantha L., Thompson, Pamela J., van Heyningen, Veronica and Fitzpatrick, David R. (2006) Role of SOX2 mutations in human hippocampal malformations and epilepsy. Epilepsia 47 (3), pp. 534-542. Fulltext restricted.

Lorenz, Birgit and Lenk-Schaefer, Marlis (2006) Pediatric ophthalmology in Germany. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 10 (1), pp. 1-3. Fulltext not available.

Wabbels, Bettina, Demmler, Anke, Paunescu, Karina, Wegscheider, Erika, Preising, Markus N. and Lorenz, Birgit (2006) Fundus autofluorescence in children and teenagers with hereditary retinal diseases. Graefe's archive for clinical and experimental ophthalmology 244 (1), pp. 36-45. Fulltext restricted.

Hoffmann, Michael B. , Lorenz, Birgit, Preising, Markus and Seufert, Petra S. (2006) Assessment of Cortical Visual Field Representations with Multifocal VEPs in Control Subjects, Patients with Albinism, and Female Carriers of Ocular Albinism. Investigative Opthalmology & Visual Science 47 (7), p. 3195. Fulltext not available.

Lorenz, Birgit, Elflein, Heike M. and Hofstädter, Ferdinand (2006) Ependymal tissue in microphthalmia with cyst. Ophthalmic genetics 27 (4), pp. 165-168. Fulltext not available.

Fulton, Anne B., Brecelj, Jelka, Lorenz, Birgit, Moskowitz, Anne, Thompson, Dorothy and Westall, Carol A. (2006) Pediatric clinical visual electrophysiology: a survey of actual practice. Documenta Ophthalmologica 113 (3), pp. 193-204. Fulltext not available.

Kohl, Susanne , Varsanyi, Balazs, Antunes, Gesine Abadin, Baumann, Britta, Hoyng, Carel B, Jägle, Herbert, Rosenberg, Thomas, Kellner, Ulrich, Lorenz, Birgit, Salati, Roberto, Jurklies, Bernhard, Farkas, Agnes, Andreasson, Sten, Weleber, Richard G, Jacobson, Samuel G , Rudolph, Günther, Castellan, Claudio, Dollfus, Helene, Legius, Eric, Anastasi, Mario, Bitoun, Pierre , Lev, Dorit, Sieving, Paul A, Munier, Francis L, Zrenner, Eberhart, Sharpe, Lindsay T, Cremers, Frans P M and Wissinger, Bernd (2005) CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. European Journal of Human Genetics 13 (3), pp. 302-308. Fulltext not available.

Poloschek, Charlotte M., Fowler, Brian, Unsold, Renate and Lorenz, Birgit (2005) Disturbed visual system function in methionine synthase deficiency. Graefe's Archive for Clinical and Experimental Ophthalmology 243 (5), pp. 497-500. Fulltext not available.

Zernant, Jana, Ku¨lm, Maigi, Dharmaraj, Sharola, den Hollander, Anneke I., Perrault, Isabelle, Preising, Markus N., Lorenz, Birgit, Kaplan, Josseline, Cremers, Frans P. M. , Maumenee, Irene, Koenekoop, Robert K. and Allikmets, Rando (2005) Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles. Investigative Opthalmology & Visual Science 46 (9), p. 3052. Fulltext not available.

Ragge, Nicola K., Brown, Alison G., Poloschek, Charlotte M., Lorenz, Birgit, Henderson, R. Alex, Clarke, Michael P., Russell-Eggitt, Isabelle, Fielder, Alistair, Gerrelli, Dianne, Martinez-Barbera, Juan Pedro , Ruddle, Piers, Hurst, Jane, Collin, J. Richard O., Salt, Alison, Cooper, Simon T., Thompson, Pamela J., Sisodiya, Sanjay M., Williamson, Kathleen A., FitzPatrick, David R. , Heyningen, Veronica van and Hanson, Isabel M. (2005) Heterozygous Mutations of OTX2 Cause Severe Ocular Malformations. The American Journal of Human Genetics 76 (6), pp. 1008-1022. Fulltext not available.

Hoffmann, Michael B. , Lorenz, Birgit, Morland, Antony B. and Schmidtborn, Linda C. (2005) Misrouting of the Optic Nerves in Albinism: Estimation of the Extent with Visual Evoked Potentials. Investigative Opthalmology & Visual Science 46 (10), p. 3892. Fulltext not available.

Tasse, Christiane, Böhringer, Stefan , Fischer, Sven, Lüdecke, Hermann-Josef, Albrecht, Beate, Horn, Denise, Janecke, Andreas , Kling, Rainer, König, Rainer, Lorenz, Birgit, Majewski, Frank, Maeyens, Elisabeth, Meinecke, Peter, Mitulla, Beate, Mohr, Christopher, Preischl, Monika, Umstadt, Horst, Kohlhase, Jürgen, Gillessen-Kaesbach, Gabriele and Wieczorek, Dagmar (2005) Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. European Journal of Medical Genetics 48 (4), pp. 397-411. Fulltext not available.

Ragge, Nicola K., Lorenz, Birgit, Schneider, Adele, Bushby, Kate, de Sanctis, Luisa, de Sanctis, Ugo, Salt, Alison, Collin, J. Richard O., Vivian, Anthony J., Free, Samantha L., Thompson, Pamela, Williamson, Kathleen A., Sisodiya, Sanjay M., van Heyningen, Veronica and FitzPatrick, David R. (2005) SOX2 anophthalmia syndrome. American Journal of Medical Genetics Part A 135A (1), pp. 1-7. Fulltext not available.

Wabbels, Bettina K., Elflein, Heike, Lorenz, Birgit and Kolling, Gerold (2004) Bilateral Tonic Pupils with Evidence of Anti-Hu Antibodies as a Paraneoplastic Manifestation of Small Cell Lung Cancer. Ophthalmologica 218 (2), pp. 141-143. Fulltext not available.

Wegscheider, Erika, Preising, Markus N. and Lorenz, Birgit (2004) Fundus autofluorescence in carriers of X-linked recessive retinitis pigmentosa associated with mutations in RPGR, and correlation with electrophysiological and psychophysical data. Graefe's Archive for Clinical and Experimental Ophthalmology 242 (6), pp. 501-511. Fulltext not available.

Sitorus, Rita S., Lorenz, Birgit and Preising, Markus N. (2003) Analysis of three genes in Leber congenital amaurosis in Indonesian patients. Vision Research 43 (28), pp. 3087-3093. Fulltext not available.

De Baere, Elfride, Beysen, Diane, Oley, Christine, Lorenz, Birgit, Cocquet, Julie, De Sutter, Paul, Devriendt, Koen, Dixon, Michael, Fellous, Marc, Fryns, Jean-Pierre, Garza, Arturo, Jonsrud, Christoffer, Koivisto, Pasi A., Krause, Amanda, Leroy, Bart P., Meire, Françoise, Plomp, Astrid, Van Maldergem, Lionel , De Paepe, Anne, Veitia, Reiner and Messiaen, Ludwine (2003) FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation. The American Journal of Human Genetics 72 (2), pp. 478-487. Fulltext not available.

Bader, Ingrid, Brandau, Oliver, Achatz, Helene, Apfelstedt-Sylla, Eckart, Hergersberg, Martin, Lorenz, Birgit, Wissinger, Bernd, Wittwer, Ba¨rbel, Rudolph, Gu¨nther, Meindl, Alfons and Meitinger, Thomas (2003) X-linked Retinitis Pigmentosa:RPGRMutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15. Investigative Opthalmology & Visual Science 44 (4), p. 1458. Fulltext not available.

Lorenz, Birgit, Schroeder, Josef and Reischl, Udo (2002) First evidence of an endogenous Spiroplasma sp. infection in humans manifesting as unilateral cataract associated with anterior uveitis in a premature baby. Graefe's Archive for Clinical and Experimental Ophthalmology 240 (5), pp. 348-353. Fulltext not available.

von Brederlow, Benigna, Bolz, Hanno, Janecke, Andreas , La O Cabrera, Alicia, Rudolph, G�nther, Lorenz, Birgit, Schwinger, Eberhard and Gal, Andreas (2002) Identification and in vitro expression of novelCDH23 mutations of patients with Usher syndrome type 1D. Human Mutation 19 (3), pp. 268-273. Fulltext not available.

Kohl, Susanne , Baumann, Britta, Rosenberg, Thomas, Kellner, Ulrich, Lorenz, Birgit, Vadalà, Maria, Jacobson, Samuel G. and Wissinger, Bernd (2002) Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia. The American Journal of Human Genetics 71 (2), pp. 422-425. Fulltext not available.

Lorenz, Birgit and Gampe, Elisabeth (2001) Analyse von 180 Patienten mit sensorischem Defektnystagmus (SDN) und kongenitalem idiopathischen Nystagmus (CIN)12. Klinische Monatsblätter für Augenheilkunde 218 (1), pp. 3-12. Fulltext not available.

Wissinger, Bernd, Gamer, Daphne, Jägle, Herbert, Giorda, Roberto , Marx, Tim, Mayer, Simone, Tippmann, Sabine, Broghammer, Martina, Jurklies, Bernhard, Rosenberg, Thomas, Jacobson, Samuel G. , Sener, E. Cumhur, Tatlipinar, Sinan, Hoyng, Carel B., Castellan, Claudio, Bitoun, Pierre , Andreasson, Sten, Rudolph, Günter, Kellner, Ulrich, Lorenz, Birgit, Wolff, Gerhard, Verellen-Dumoulin, Christine, Schwartz, Marianne, Cremers, Frans P.M. , Apfelstedt-Sylla, Eckart, Zrenner, Eberhart, Salati, Roberto, Sharpe, Lindsay T. and Kohl, Susanne (2001) CNGA3 Mutations in Hereditary Cone Photoreceptor Disorders. The American Journal of Human Genetics 69 (4), pp. 722-737. Fulltext not available.

Bassi, M. , Bergen, Arthur, Bitoun, Pierre , Charles, Stephen, Clementi, Maurizio, Gosselin, Richard, Hurst, Jane, Lewis, Richard, Lorenz, Birgit, Meitinger, Thomas , Messiaen, Ludwine, Ramesar, Rajkumar , Ballabio, Andrea and Schiaffino, M. (2001) Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. Human Genetics 108 (1), pp. 51-54. Fulltext not available.

Delettre, Cécile, Griffoin, Jean-Michel, Kaplan, Josseline, Dollfus, Hélène, Lorenz, Birgit, Faivre, Laurence, Lenaers, Guy, Belenguer, Pascale and Hamel, Christian P. (2001) Mutation spectrum and splicing variants in the OPA1 gene. Human Genetics 109 (6), pp. 584-591. Fulltext not available.