A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia

Por Weisschuh, Nicole, Wissinger, Bernd, Gramer, Eugen
Publicado em 2012

Variations in the WDR36 gene in German patients with normal tension glaucoma

Por Weisschuh, Nicole, Wolf, Christiane, Wissinger, Bernd, Gramer, Eugen
Publicado em 2007

Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract

Por Weisschuh, Nicole, Aisenbrey, Sabine, Wissinger, Bernd, Riess, Angelika
Publicado em 2012

Clinical utility gene card for: Axenfeld–Rieger syndrome

Por Weisschuh, Nicole, De Baere, Elfride, Wissinger, Bernd, Tümer, Zeynep
Publicado em 2011

Genotype and Phenotype in an unusual form of Laurence–Moon–Bardet–Biedl syndrome

Por Kamme, Christina, Mayer, Anja Kathrin, Strom, Tim M., Andréasson, Sten, Weisschuh, Nicole
Publicado no Acta Ophthalmol (2016)

Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population

Por Wissinger Bernd, Pasutto Francesca, Müller-Myhsok Bertram, Gramer Eugen, Wolf Christiane, Weisschuh Nicole
Publicado em 2010-01-01

Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population

Por Wolf, Christiane, Gramer, Eugen, Müller-Myhsok, Bertram, Pasutto, Francesca, Wissinger, Bernd, Weisschuh, Nicole
Publicado em 2010

Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study

Por Wolf, Christiane, Gramer, Eugen, Müller-Myhsok, Bertram, Pasutto, Francesca, Reinthal, Eva, Wissinger, Bernd, Weisschuh, Nicole
Publicado em 2009

Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation

Por Dressler, Simone, Meyer-Marcotty, Philipp, Weisschuh, Nicole, Jablonski-Momeni, Anahita, Pieper, Klaus, Gramer, Gwendolyn, Gramer, Eugen
Publicado em 2010

Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation

Por Mayer, Anja K, Rohrschneider, Klaus, Strom, Tim M, Glöckle, Nicola, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole
Publicado no Eur J Hum Genet (2016)

CDHR1 mutations in retinal dystrophies

Por Stingl, Katarina, Mayer, Anja K., Llavona, Pablo, Mulahasanovic, Lejla, Rudolph, Günther, Jacobson, Samuel G., Zrenner, Eberhart, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole
Publicado no Sci Rep (2017)

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

Por Mauri, Lucia, Uebe, Steffen, Sticht, Heinrich, Vossmerbaeumer, Urs, Weisschuh, Nicole, Manfredini, Emanuela, Maselli, Edoardo, Patrosso, Mariacristina, Weinreb, Robert N., Penco, Silvana, Reis, André, Pasutto, Francesca
Publicado no Orphanet J Rare Dis (2016)

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy

Por Wawrocka, Anna, Skorczyk-Werner, Anna, Wicher, Katarzyna, Niedziela, Zuzanna, Ploski, Rafal, Rydzanicz, Malgorzata, Sykulski, Maciej, Kociecki, Jaroslaw, Weisschuh, Nicole, Kohl, Susanne, Biskup, Saskia, Wissinger, Bernd, Krawczynski, Maciej R.
Publicado no Mol Vis (2018)

Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma

Por Fernández-Martínez, Lorena, Letteboer, Stef, Mardin, Christian Y, Weisschuh, Nicole, Gramer, Eugen, Weber, Bernhard HF, Rautenstrauss, Bernd, Ferreira, Paulo A, Kruse, Friedrich E, Reis, André, Roepman, Ronald, Pasutto, Francesca
Publicado em 2011

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

Por Glöckle, Nicola, Kohl, Susanne, Mohr, Julia, Scheurenbrand, Tim, Sprecher, Andrea, Weisschuh, Nicole, Bernd, Antje, Rudolph, Günther, Schubach, Max, Poloschek, Charlotte, Zrenner, Eberhart, Biskup, Saskia, Berger, Wolfgang, Wissinger, Bernd, Neidhardt, John
Publicado em 2014

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome

Por Krumbiegel, Mandy, Pasutto, Francesca, Schlötzer-Schrehardt, Ursula, Uebe, Steffen, Zenkel, Matthias, Mardin, Christian Y, Weisschuh, Nicole, Paoli, Daniela, Gramer, Eugen, Becker, Christian, Ekici, Arif B, Weber, Bernhard HF, Nürnberg, Peter, Kruse, Friedrich E, Reis, André
Publicado em 2011

Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene

Por Skorczyk-Werner, Anna, Chiang, Wei-Chieh, Wawrocka, Anna, Wicher, Katarzyna, Jarmuż-Szymczak, Małgorzata, Kostrzewska-Poczekaj, Magdalena, Jamsheer, Aleksander, Płoski, Rafał, Rydzanicz, Małgorzata, Pojda-Wilczek, Dorota, Weisschuh, Nicole, Wissinger, Bernd, Kohl, Susanne, Lin, Jonathan H, Krawczyński, Maciej R
Publicado no Eur J Hum Genet (2017)

Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype

Por Schubert, Timm, Gleiser, Corinna, Heiduschka, Peter, Franz, Christoph, Nagel-Wolfrum, Kerstin, Sahaboglu, Ayse, Weisschuh, Nicole, Eske, Gordon, Rohbock, Karin, Rieger, Norman, Paquet-Durand, François, Wissinger, Bernd, Wolfrum, Uwe, Hirt, Bernhard, Singer, Wibke, Rüttiger, Lukas, Zimmermann, Ulrike, Knipper, Marlies
Publicado no Cell Mol Life Sci (2015)

Variants in ASB10 are associated with open-angle glaucoma

Por Pasutto, Francesca, Keller, Kate E., Weisschuh, Nicole, Sticht, Heinrich, Samples, John R., Yang, Yong-Feng, Zenkel, Matthias, Schlötzer-Schrehardt, Ursula, Mardin, Christian Y., Frezzotti, Paolo, Edmunds, Beth, Kramer, Patricia L., Gramer, Eugen, Reis, André, Acott, Ted S., Wirtz, Mary K.
Publicado em 2012

Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma

Por Pasutto, Francesca, Matsumoto, Tomoya, Mardin, Christian Y., Sticht, Heinrich, Brandstätter, Johann H., Michels-Rautenstrauss, Karin, Weisschuh, Nicole, Gramer, Eugen, Ramdas, Wishal D., van Koolwijk, Leonieke M.E., Klaver, Caroline C.W., Vingerling, Johannes R., Weber, Bernhard H.F., Kruse, Friedrich E., Rautenstrauss, Bernd, Barde, Yves-Alain, Reis, André
Publicado em 2009