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 2012

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

por Weisschuh, Nicole, Wolf, Christiane, Wissinger, Bernd, Gramer, Eugen
Publicado 2007

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

por Weisschuh, Nicole, Aisenbrey, Sabine, Wissinger, Bernd, Riess, Angelika
Publicado 2012

Systematic analysis of CNGA3 splice variants identifies different mechanisms of aberrant splicing

por Reuter, Peggy, Walter, Magdalena, Kohl, Susanne, Weisschuh, Nicole
Publicado 2023

Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort

por Zobor, Ditta, Brühwiler, Britta, Zrenner, Eberhart, Weisschuh, Nicole, Kohl, Susanne
Publicado 2023

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 2016

An Assessment of GUCA1C Variants in Primary Congenital Glaucoma

por Souzeau, Emmanuelle, Weisschuh, Nicole, Craig, Jamie E., Pasutto, Francesca, Koch, Karl-Wilhelm
Publicado 2021

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 2010

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

por Weisschuh, Nicole, Mazzola, Pascale, Heinrich, Tilman, Haack, Tobias, Wissinger, Bernd, Tonagel, Felix, Kelbsch, Carina
Publicado 2020

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 2009

Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

por Weisschuh, Nicole, Mazzola, Pascale, Bertrand, Miriam, Haack, Tobias B., Wissinger, Bernd, Kohl, Susanne, Stingl, Katarina
Publicado 2021

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 2010

X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR

por Kortüm, Friederike, Kieninger, Sinja, Mazzola, Pascale, Kohl, Susanne, Wissinger, Bernd, Prokisch, Holger, Stingl, Katarina, Weisschuh, Nicole
Publicado 2021

Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms

por Weisschuh, Nicole, Marino, Valerio, Schäferhoff, Karin, Richter, Paul, Park, Joohyun, Haack, Tobias B, Dell’Orco, Daniele
Publicado 2021

Characterization of a novel non‐canonical splice site variant (c.886‐5T>A) in NBAS and description of the associated phenotype

por Priglinger, Claudia S., Rudolph, Günter, Schmid, Irene, Mazzola, Pascale, Haack, Tobias B., Reith, Milda, Stingl, Katarina, Weisschuh, Nicole
Publicado 2022

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis

por Weisschuh, Nicole, Feldhaus, Britta, Khan, Muhammad Imran, Cremers, Frans P. M., Kohl, Susanne, Wissinger, Bernd, Zobor, Ditta
Publicado 2018

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports

por Kloth, Katja, Synofzik, Matthis, Kernstock, Christoph, Schimpf-Linzenbold, Simone, Schuettauf, Frank, Neu, Axel, Wissinger, Bernd, Weisschuh, Nicole
Publicado 2019

A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients

por Aweidah, Hamzah, Salameh, Manar, Yahalom, Claudia, Blumenfeld, Anat, Macarov, Michal, Weisschuh, Nicole, Kohl, Susanne, Banin, Eyal, Sharon, Dror
Publicado 2021

Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant

por Kellner, Ulrich, Weisschuh, Nicole, Weinitz, Silke, Farmand, Ghazaleh, Deutsch, Sebastian, Kortüm, Friederike, Mazzola, Pascale, Schäferhoff, Karin, Marino, Valerio, Dell’Orco, Daniele
Publicado 2021

Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa

por Avesani, Anna, Bielefeld, Laura, Weisschuh, Nicole, Marino, Valerio, Mazzola, Pascale, Stingl, Katarina, Haack, Tobias B., Koch, Karl-Wilhelm, Dell’Orco, Daniele
Publicado 2022