Three novel ABCC5 splice variants in human retina and their role as regulators of ABCC5 gene expression

Por Stojic, Jelena, Stöhr, Heidi, Weber, Bernhard HF
Publicado em 2007

X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms

Por Molday, Robert S., Kellner, Ulrich, Weber, Bernhard H.F.
Publicado em 2012

The X‐linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen‐activated protein kinase signalling and apoptosis in the retina

Por Plössl, Karolina, Weber, Bernhard H.F., Friedrich, Ulrike
Publicado no J Cell Mol Med (2016)

The Retinome – Defining a reference transcriptome of the adult mammalian retina/retinal pigment epithelium

Por Schulz, Heidi L, Goetz, Thomas, Kaschkoetoe, Juergen, Weber, Bernhard HF
Publicado em 2004

Molecular evolution and functional divergence of the bestrophin protein family

Por Milenkovic, Vladimir M, Langmann, Thomas, Schreiber, Rainer, Kunzelmann, Karl, Weber, Bernhard HF
Publicado em 2008

Evolution and functional divergence of the anoctamin family of membrane proteins

Por Milenkovic, Vladimir M, Brockmann, Marisa, Stöhr, Heidi, Weber, Bernhard HF, Strauss, Olaf
Publicado em 2010

Common synonymous variants in ABCA4 are protective for chloroquine induced maculopathy (toxic maculopathy)

Por Grassmann, Felix, Bergholz, Richard, Mändl, Julia, Jägle, Herbert, Ruether, Klaus, Weber, Bernhard HF
Publicado no BMC Ophthalmol (2015)

An update on the genetics of age-related macular degeneration

Por Scholl, Hendrik P.N., Fleckenstein, Monika, Issa, Peter Charbel, Keilhauer, Claudia, Holz, Frank G., Weber, Bernhard H.F.
Publicado em 2007

Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency

Por Friedrich, Ulrike, Myers, Connie A., Fritsche, Lars G., Milenkovich, Andrea, Wolf, Armin, Corbo, Joseph C., Weber, Bernhard H.F.
Publicado em 2011

A Gene Map of the Best’s Vitelliform Macular Dystrophy Region in Chromosome 11q12–q13.1

Por Stöhr, Heidi, Marquardt, Andreas, Rivera, Andrea, Cooper, Paul R., Nowak, Norma J., Shows, Thomas B., Gerhard, Daniela S., Weber, Bernhard H.F.
Publicado em 1998

PTHR1 Loss-of-Function Mutations in Familial, Nonsyndromic Primary Failure of Tooth Eruption

Por Decker, Eva, Stellzig-Eisenhauer, Angelika, Fiebig, Britta S., Rau, Christiane, Kress, Wolfram, Saar, Kathrin, Rüschendorf, Franz, Hubner, Norbert, Grimm, Tiemo, Weber, Bernhard H.F.
Publicado em 2008

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

CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors

Por Corbo, Joseph C., Lawrence, Karen A., Karlstetter, Marcus, Myers, Connie A., Abdelaziz, Musa, Dirkes, William, Weigelt, Karin, Seifert, Martin, Benes, Vladimir, Fritsche, Lars G., Weber, Bernhard H.F., Langmann, Thomas
Publicado em 2010

Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)

Por Grassmann, Felix, Cantsilieris, Stuart, Schulz-Kuhnt, Anja-Sabrina, White, Stefan J., Richardson, Andrea J, Hewitt, Alex W, Vote, Brendan J., Schmied, Denise, Guymer, Robyn H, Weber, Bernhard H.F., Baird, Paul N.
Publicado no J Neuroinflammation (2016)

Nonsense Mutations in FAM161A Cause RP28-Associated Recessive Retinitis Pigmentosa

Por Langmann, Thomas, Di Gioia, Silvio Alessandro, Rau, Isabella, Stöhr, Heidi, Maksimovic, Nela S., Corbo, Joseph C., Renner, Agnes B., Zrenner, Eberhart, Kumaramanickavel, Govindasamy, Karlstetter, Marcus, Arsenijevic, Yvan, Weber, Bernhard H.F., Gal, Andreas, Rivolta, Carlo
Publicado em 2010

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

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

Nuclear receptor coregulator SNP discovery and impact on breast cancer risk

Por Varon-Mateeva Raymonda, Arnold Norbert, Niederacher Dieter, Weber Bernhard HF, Bugert Peter, Ditsch Nina, Sutter Christian, Hemminki Kari, Rae Jimmy M, Skaar Todd C, McGuire Sean E, Wang Jay, Richter Alexandra S, Tchatchou Sandrine, Hartmaier Ryan J, Wappenschmidt Barbara, Schmutzler Rita K, Meindl Alfons, Bartram Claus R, Burwinkel Barbara, Oesterreich Steffi
Publicado em 2009-12-01

Nuclear receptor coregulator SNP discovery and impact on breast cancer risk

Por Hartmaier, Ryan J, Tchatchou, Sandrine, Richter, Alexandra S, Wang, Jay, McGuire, Sean E, Skaar, Todd C, Rae, Jimmy M, Hemminki, Kari, Sutter, Christian, Ditsch, Nina, Bugert, Peter, Weber, Bernhard HF, Niederacher, Dieter, Arnold, Norbert, Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Schmutzler, Rita K, Meindl, Alfons, Bartram, Claus R, Burwinkel, Barbara, Oesterreich, Steffi
Publicado em 2009

Evidence of association of APOE with age-related macular degeneration - a pooled analysis of 15 studies

Por McKay, Gareth J., Patterson, Chris C., Chakravarthy, Usha, Dasari, Shilpa, Klaver, Caroline C., Vingerling, Johannes R., Ho, Lintje, de Jong, Paulus T.V.M., Fletcher, Astrid E., Young, Ian S., Seland, Johan H., Rahu, Mati, Soubrane, Gisele, Tomazzoli, Laura, Topouzis, Fotis, Vioque, Jesus, Hingorani, Aroon D., Sofat, Reecha, Dean, Michael, Sawitzke, Julie, Seddon, Johanna M., Peter, Inga, Webster, Andrew R., Moore, Anthony T., Yates, John R.W., Cipriani, Valentina, Fritsche, Lars G., Weber, Bernhard H.F., Keilhauer, Claudia N., Lotery, Andrew J., Ennis, Sarah, Klein, Michael L., Francis, Peter J., Stambolian, Dwight, Orlin, Anton, Gorin, Michael B., Weeks, Daniel E., Kuo, Chia-Ling, Swaroop, Anand, Othman, Mohammad, Kanda, Atsuhiro, Chen, Wei, Abecasis, Goncalo R., Wright, Alan F., Hayward, Caroline, Baird, Paul N., Guymer, Robyn H., Attia, John, Thakkinstian, Ammarin, Silvestri, Giuliana
Publicado em 2011