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Bernd Wissinger

Augenarzt

Name	Bernd Wissinger
Place	Tübingen (Wirkungsort) Deutschland
Gender	männlich
Academic degree	Prof. Dr. rer. nat.
Profession	Augenarzt (characteristic profession) Biologe
Variant	B. Wissinger
Related	Forschungsinstitut für Augenheilkunde Universitätsklinikum Tübingen
Further information	Professor für Molekulargenetik sensorischer Systeme
Source	Universitätsklinikum Tübingen: http://www.eye-tuebingen.de/wissinger/
Record type	Person
GND-Identifier	1218323558
Record ID	1218323558
Involved in show all Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects Evaluation of retinal structure and visual function in blue cone monochromacy to develop clinical endpoints for L-opsin gene therapy DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy A case of X-linked retinoschisis with atypical fundus appearance Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants Das OPA1-assoziierte Behr Syndrom : Ursächliche Mutationen, Behandlungsstrategien und ein Mausmodell Die Bedeutung von Atf6 für die Zebrafischretina : Generierung und Charakterisierung eines atf6-/- - Zebrafischmodells Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report Genetische Ursachen und genetische Diagnostik bei hereditären Optikusatrophien Abstracts from the 8th International Conference on cGMP Generators, Effectors and Therapeutic Implications : Bamberg, Germany. 23-25 June, 2017 A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia Identifizierung chemischer und pharmakologischer Chaperone zur Korrektur trafficking-defizienter Zapfen CNG-Kanäle Development of a pharmacorphore model for pharmacological chaperones targeting mutant trafficking-deficient CNG channels Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study Mapping of transcription start sites of human retina expressed genes Genetics in Ophthalmology Genetics in ophthalmology : 12 tables Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain Ein Fall von Leberscher Optikusneuropathie (LHON) mit einer neuen Punktmutation im Cytochrom-b-Gen Leber’s hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene A pedigree of Leber’s hereditary optic neuropathy with visual loss in childhood, primarily in girls Misdiagnosis of Leber's hereditary optic neuropathy (LHON): role of clinical and molecular genetic examinations : Stellenwert klinischer und molekulargenetischer Untersuchungen* Von der Urschrift zur Reife : Studien zum Splicing und Editing mitochondrialer Transkripte in Höheren Pflanzen

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Katalog der Deutschen Nationalbibliothek

Bernd Wissinger

Pitfalls in the genetic testing of the OPN1LW-OPN1MW gene cluster in human subjects

Evaluation of retinal structure and visual function in blue cone monochromacy to develop clinical endpoints for L-opsin gene therapy

DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber’s hereditary optic neuropathy and optic atrophy

A case of X-linked retinoschisis with atypical fundus appearance

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

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Das OPA1-assoziierte Behr Syndrom : Ursächliche Mutationen, Behandlungsstrategien und ein Mausmodell

Die Bedeutung von Atf6 für die Zebrafischretina : Generierung und Charakterisierung eines atf6-/- - Zebrafischmodells

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

A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy: a case report

Genetische Ursachen und genetische Diagnostik bei hereditären Optikusatrophien

Abstracts from the 8th International Conference on cGMP Generators, Effectors and Therapeutic Implications : Bamberg, Germany. 23-25 June, 2017

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

Identifizierung chemischer und pharmakologischer Chaperone zur Korrektur trafficking-defizienter Zapfen CNG-Kanäle

Development of a pharmacorphore model for pharmacological chaperones targeting mutant trafficking-deficient CNG channels

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy

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

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

Mapping of transcription start sites of human retina expressed genes

Genetics in Ophthalmology

Genetics in ophthalmology : 12 tables

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

Ein Fall von Leberscher Optikusneuropathie (LHON) mit einer neuen Punktmutation im Cytochrom-b-Gen

Leber’s hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene

A pedigree of Leber’s hereditary optic neuropathy with visual loss in childhood, primarily in girls

Misdiagnosis of Leber's hereditary optic neuropathy (LHON): role of clinical and molecular genetic examinations : Stellenwert klinischer und molekulargenetischer Untersuchungen*

Von der Urschrift zur Reife : Studien zum Splicing und Editing mitochondrialer Transkripte in Höheren Pflanzen