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1

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

Mauri, Lucia, Uebe, Steffen, Sticht, Heinrich, Vossmerbaeumer, Urs, Weisschuh, Nicole, Manfredini, Emanuela, Maselli, Edoardo, Patrosso, Mariacristina, Weinreb, Robert N., Penco, Silvana, Reis, André,

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 1.52 MB

english, 2016

2

A commutative regulator map into Deligne–Beilinson cohomology

Weißschuh, Thomas

Journal:

manuscripta mathematica

Year:

2017

Language:

english

File:

PDF, 595 KB

english, 2017

3

Probabilistic Engine Performance Scatter and Deterioration Modeling

Spieler, Stefan, Staudacher, Stephan, Fiola, Roland, Sahm, Peter, Weißschuh, Matthias

Journal:

Journal of Engineering for Gas Turbines and Power

Year:

2008

Language:

english

File:

PDF, 930 KB

english, 2008

4

Modeling Particle Deposition Effects in Aircraft Engine Compressors

Döring, Felix, Staudacher, Stephan, Koch, Christian, Weißschuh, Matthias

Journal:

Journal of Turbomachinery

Year:

2017

Language:

english

File:

PDF, 1023 KB

english, 2017

5

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9âyear period

Weisschuh, Nicole, Obermeier, Carolin D., Battke, Florian, Bernd, Antje, Kuehlewein, Laura, Nasser, Fadi, Zobor, Ditta, Zrenner, Eberhart, Weber, Eva, Wissinger, Bernd, Biskup, Saskia, Stingl, Katarin

Journal:

Year:

2020

File:

PDF, 498 KB

2020

6

First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy â a case report

Weisschuh, Nicole, Mazzola, Pascale, Heinrich, Tilman, Haack, Tobias, Wissinger, Bernd, Tonagel, Felix, Kelbsch, Carina

Journal:

BMC Medical Genetics

Year:

2020

File:

PDF, 2.60 MB

2020

7

Digenic Inheritance in Axenfeld Rieger Syndrome

Nicole Weisschuh

Journal:

Year:

2011

Language:

english

File:

PDF, 81 KB

english, 2011

8

Two transcriptional regulators GlnR and GlnRII are involved in regulation of nitrogen metabolism in Streptomyces coelicolor A3(2)

D. Fink, N. Weißschuh, J. Reuther, W. Wohlleben, A. Engels

Journal:

Molecular Microbiology

Year:

2002

Language:

english

File:

PDF, 534 KB

english, 2002

9

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

Christiane Wolf, Eugen Gramer, Bertram Müller-Myhsok, Francesca Pasutto, Bernd Wissinger, Nicole Weisschuh

Journal:

Year:

2010

Language:

english

File:

PDF, 205 KB

english, 2010

10

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

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

Journal:

BMC Medical Genetics

Year:

2009

Language:

english

File:

PDF, 545 KB

english, 2009

11

Universelles Neugeborenen-Hörscreening

S. Hoth, K. Neumann, H. Weißschuh, J. Bräunert, P. Böttcher, C. Hornberger, H. Maul, B. Beedgen, K. Buschmann, C. Sohn, G. Hoffmann, P. Plinkert

Journal:

Year:

2009

Language:

german

File:

PDF, 816 KB

german, 2009

12

Transcriptional analysis of the gene for glutamine synthetase

N. Weißschuh, D. Fink, S. Vierling, M. J. Bibb, W. Wohlleben, A. Engels

Journal:

Molecular Genetics and Genomics

Year:

2000

Language:

english

File:

PDF, 217 KB

english, 2000

13

A novel mutation in the FOXC1 gene in a family with Axenfeld–Rieger syndrome and Peters’ anomaly

N Weisschuh, C Wolf, B Wissinger, E Gramer

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 238 KB

english, 2008

14

Morphology of the sella turcica in Axenfeld–Rieger syndrome with PITX2 mutation

P. Meyer-Marcotty, N. Weisschuh, P. Dressler, J. Hartmann, A. Stellzig-Eisenhauer

Journal:

Journal of Oral Pathology & Medicine

Year:

2008

Language:

english

File:

PDF, 319 KB

english, 2008

15

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

Krumbiegel, Mandy, Pasutto, Francesca, Schlötzer-Schrehardt, Ursula, Uebe, Steffen, Zenkel, Matthias, Mardin, Christian Y, Weisschuh, Nicole, Paoli, Daniela, Gramer, Eugen, Becker, Christian

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 707 KB

english, 2010

16

Clinical utility gene card for: Axenfeld–Rieger syndrome

Weisschuh, Nicole, De Baere, Elfride, Wissinger, Bernd, Tümer, Zeynep

Journal:

European Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 111 KB

english, 2010

17

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

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

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 441 KB

english, 2011

18

Not Only Single Mating in Stingless Bees

Paxton, Robert J., Weißschuh, Nicole, Engels, Wolf, Hartfelder, Klaus, Quezada-Euan, J. Javier G.

Journal:

Naturwissenschaften (The Science of Nature)

Year:

1999

Language:

english

File:

PDF, 62 KB

english, 1999

19

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

Francesca Pasutto, Tomoya Matsumoto, Christian Y. Mardin, Heinrich Sticht, Johann H. Brandstätter, Karin Michels-Rautenstrauss, Nicole Weisschuh, Eugen Gramer, Wishal D. Ramdas, Leonieke M.E. van Kool

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1012 KB

english, 2009

20

IT Security — An Historical Perspective

Thomas Weißschuh

Journal:

Computer Fraud & Security

Year:

2000

Language:

english

File:

PDF, 388 KB

english, 2000

21

A Clinical and Molecular Genetic Study of German Patients with Primary Congenital Glaucoma

Nicole Weisschuh, Christiane Wolf, Bernd Wissinger, Eugen Gramer

Journal:

American Journal of Ophthalmology

Year:

2009

Language:

english

File:

PDF, 992 KB

english, 2009

22

Identification of genes that are linked with optineurin expression using a combined RNAi–microarray approach

Nicole Weisschuh, Marcel V. Alavi, Michael Bonin, Bernd Wissinger

Journal:

Experimental Eye Research

Year:

2007

Language:

english

File:

PDF, 367 KB

english, 2007

23

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

Glöckle, Nicola, Kohl, Susanne, Mohr, Julia, Scheurenbrand, Tim, Sprecher, Andrea, Weisschuh, Nicole, Bernd, Antje, Rudolph, Günther, Schubach, Max, Poloschek, Charlotte, Zrenner, Eberhart, Biskup, Sa

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 697 KB

english, 2014

24

Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy

Roosing, Susanne, Rohrschneider, Klaus, Beryozkin, Avigail, Sharon, Dror, Weisschuh, Nicole, Staller, Jennifer, Kohl, Susanne, Zelinger, Lina, Peters, Theo A., Neveling, Kornelia, Strom, Tim M., van d

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.17 MB

english, 2013

25

Characterization of dinucleotide microsatellite loci for stingless bees

Paxton, R. J, Weißschuh, N, Quezada-eu án, J.J.G

Journal:

Molecular Ecology

Year:

1999

Language:

english

File:

PDF, 120 KB

english, 1999

26

An Experimental Local PCM-Switching System

L. Katzschner, W. Lorcher, H. Weisschuh

Year:

1973

Language:

english

File:

PDF, 460 KB

english, 1973

27

Variants in ASB10 are associated with open-angle glaucoma

Pasutto, F., Keller, K. E., Weisschuh, N., Sticht, H., Samples, J. R., Yang, Y.-F., Zenkel, M., Schlotzer-Schrehardt, U., Mardin, C. Y., Frezzotti, P., Edmunds, B., Kramer, P. L., Gramer, E., Reis, A.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 624 KB

english, 2012

28

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

Schubert, Timm, Gleiser, Corinna, Heiduschka, Peter, Franz, Christoph, Nagel-Wolfrum, Kerstin, Sahaboglu, Ayse, Weisschuh, Nicole, Eske, Gordon, Rohbock, Karin, Rieger, Norman, Paquet-Durand, François

Journal:

Cellular and Molecular Life Sciences

Year:

2015

Language:

english

File:

PDF, 16.48 MB

english, 2015

29

Novel Mutations of FOXC1 and PITX2 in Patients with Axenfeld-Rieger Malformations

Weisschuh, Nicole, Dressler, Paul, Schuettauf, Frank, Wolf, Christiane, Wissinger, Bernd, Gramer, Eugen

Journal:

Investigative Ophthalmology & Visual Science

Year:

2006

Language:

english

File:

PDF, 266 KB

english, 2006

30

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

Kohl, Susanne, Zobor, Ditta, Chiang, Wei-Chieh, Weisschuh, Nicole, Staller, Jennifer, Menendez, Irene Gonzalez, Chang, Stanley, Beck, Susanne C, Garrido, Marina Garcia, Sothilingam, Vithiyanjali, Seel

Journal:

Nature Genetics

Year:

2015

Language:

english

File:

PDF, 3.12 MB

english, 2015

31

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

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

Journal:

Case Reports in Medicine

Year:

2010

Language:

english

File:

PDF, 983 KB

english, 2010

32

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

Mayer, Anja K, Rohrschneider, Klaus, Strom, Tim M, Glöckle, Nicola, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 855 KB

english, 2015

33

An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

Bauwens, Miriam, De Zaeytijd, Julie, Weisschuh, Nicole, Kohl, Susanne, Meire, Françoise, Dahan, Karin, Depasse, Fanny, De Jaegere, Sarah, De Ravel, Thomy, De Rademaeker, Marjan, Loeys, Bart, Coppieter

Journal:

Year:

2015

Language:

english

File:

PDF, 492 KB

english, 2015

34

Apolipoprotein E Genotypes in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

Krumbiegel, Mandy, Pasutto, Francesca, Mardin, Christian Y., Weisschuh, Nicole, Paoli, Daniela, Gramer, Eugen, Weber, Bernhard H.F., Kruse, Friedrich E., Schlötzer-Schrehardt, Ursula, Reis, André

Journal:

Journal of Glaucoma

Year:

2010

Language:

english

File:

PDF, 118 KB

english, 2010

35

Lysyl Oxidase-like 1 Gene Polymorphisms in German Patients With Normal Tension Glaucoma, Pigmentary Glaucoma and Exfoliation Glaucoma

Wolf, Christiane, Gramer, Eugen, Müller-Myhsok, Bertram, Pasutto, Francesca, Gramer, Gwendolyn, Wissinger, Bernd, Weisschuh, Nicole

Journal:

Journal of Glaucoma

Year:

2010

Language:

english

File:

PDF, 199 KB

english, 2010

36

Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene

Hipp, Stephanie, Zobor, Gergely, Glöckle, Nicola, Mohr, Julia, Kohl, Susanne, Zrenner, Eberhart, Weisschuh, Nicole, Zobor, Ditta

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2015

Language:

english

File:

PDF, 478 KB

english, 2015

37

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

Kamme, Christina, Mayer, Anja Kathrin, Strom, Tim M., Andréasson, Sten, Weisschuh, Nicole

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2017

Language:

english

File:

PDF, 307 KB

english, 2017

38

Dysfunction of cGMP signalling in photoreceptors by a macular dystrophy-related mutation in the calcium sensor GCAP1

Vocke, Farina, Weisschuh, Nicole, Marino, Valerio, Malfatti, Silvia, Jacobson, Samuel G., Reiff, Charlotte M., Dell’Orco, Daniele, Koch, Karl-Wilhelm

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 655 KB

english, 2016

39

Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family

Feldhaus, Britta, Kohl, Susanne, Hörtnagel, Konstanze, Weisschuh, Nicole, Zobor, Ditta

Journal:

Ophthalmic Genetics

Year:

2017

Language:

english

File:

PDF, 787 KB

english, 2017

40

[ASME ASME Turbo Expo 2010: Power for Land, Sea, and Air - Glasgow, UK (June 14–18, 2010)] Volume 6: Structures and Dynamics, Parts A and B - Probabilistic Engine Maintenance Modeling for Varying Environmental and Operating Conditions

Müller, Matthias, Staudacher, Stephan, Friedl, Winfried-Hagen, Köhler, René, Weißschuh, Matthias

Year:

2010

Language:

english

File:

PDF, 553 KB

english, 2010

41

[ASME ASME Turbo Expo 2010: Power for Land, Sea, and Air - Glasgow, UK (June 14–18, 2010)] Volume 3: Controls, Diagnostics and Instrumentation; Cycle Innovations; Marine - Operator-Specific Engine Trending Using a Feature-Based Model

Gräter, Friederike, Staudacher, Stephan, Weißschuh, Matthias

Year:

2010

Language:

english

File:

PDF, 841 KB

english, 2010

42

CDHR1 mutations in retinal dystrophies

Stingl, Katarina, Mayer, Anja K., Llavona, Pablo, Mulahasanovic, Lejla, Rudolph, Günther, Jacobson, Samuel G., Zrenner, Eberhart, Kohl, Susanne, Wissinger, Bernd, Weisschuh, Nicole

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 4.51 MB

english, 2017

43

Optic Disc Drusen and Family History of Glaucoma – Results of a Patient-directed Survey

Gramer, Gwendolyn, Gramer, Eugen, Weisschuh, Nicole

Journal:

Journal of Glaucoma

Year:

2017

Language:

english

File:

PDF, 2.65 MB

english, 2017

44

Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 gene

Nasser, Fadi, Weisschuh, Nicole, Maffei, Pietro, Milan, Gabriella, Heller, Corina, Zrenner, Eberhart, Kohl, Susanne, Kuehlewein, Laura

Journal:

Acta Ophthalmologica (Blackwell)

Year:

2017

Language:

english

File:

PDF, 3.24 MB

english, 2017

45

[ASME ASME 2012 Gas Turbine India Conference - Mumbai, Maharashtra, India (Saturday 1 December 2012)] ASME 2012 Gas Turbine India Conference - Form Factor for the Top-Level Comparison of the Condition of Supply of High-Pressure Compressor Blades

Schrade, Marcus, Staudacher, Stephan, Weißschuh, Matthias, Voigt, Matthias

Year:

2012

Language:

english

File:

PDF, 1.09 MB

english, 2012

46

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing

Weisschuh, Nicole, Mayer, Anja K., Strom, Tim M., Kohl, Susanne, Glöckle, Nicola, Schubach, Max, Andreasson, Sten, Bernd, Antje, Birch, David G., Hamel, Christian P., Heckenlively, John R., Jacobson,

Journal:

Year:

2016

Language:

english

File:

PDF, 369 KB

english, 2016

47

Mutations in the gene PDE6C encoding the catalytic subunit of the cone photoreceptor phosphodiesterase in patients with achromatopsia

Weisschuh, Nicole, Stingl, Katarina, Audo, Isabelle, Biskup, Saskia, Bocquet, Béatrice, Branham, Kari, Burstedt, Marie S, De Baere, Elfride, De Vries, Meindert J, Golovleva, Irina, Green, Andrew, Heck

Journal:

Year:

2018

Language:

english

File:

PDF, 677 KB

english, 2018

48

Phenotype Variations Caused by Mutations in the RP1L1 Gene in a Large Mainly German Cohort

Zobor, Ditta, Zobor, Gergely, Hipp, Stephanie, Baumann, Britta, Weisschuh, Nicole, Biskup, Saskia, Sliesoraityte, Ieva, Zrenner, Eberhart, Kohl, Susanne

Journal:

Investigative Opthalmology & Visual Science

Year:

2018

Language:

english

File:

PDF, 1.28 MB

english, 2018

49

[ASME ASME Turbo Expo 2004: Power for Land, Sea, and Air - Vienna, Austria (June 14–17, 2004)] Volume 5: Turbo Expo 2004, Parts A and B - Investigation on the Influence of a Core Chevron Nozzle on the Performance of a Modern Bypass Engine

Weißschuh, Matthias, Staudacher, Stephan

Year:

2004

Language:

english

File:

PDF, 369 KB

english, 2004

50

Exploring Functional Candidate Genes for Genetic Association in German Patients with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

Krumbiegel, Mandy, Pasutto, Francesca, Mardin, Christian Y., Weisschuh, Nicole, Paoli, Daniela, Gramer, Eugen, Zenkel, Matthias, Weber, Bernhard H. F., Kruse, Friedrich E., Schlo¨tzer-Schrehardt, Ursu

Journal:

Investigative Ophthalmology & Visual Science

Year:

2009

Language:

english

File:

PDF, 126 KB

english, 2009