Britta Baumann

发表

A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.

P. Barboni, R. Lodi, R. Youle, 2011, Human molecular genetics.

Multiexon deletion alleles of ATF6 linked to achromatopsia.

Daniel L. Chao, S. Tsang, A. Moore, 2020, JCI insight.

Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.

E. Zrenner, T. Rosenberg, C. Wolf, 2008, Investigative ophthalmology & visual science.

Homozygosity mapping reveals new nonsense mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in a Palestinian family

B. Wissinger, B. Baumann, D. Zobor, 2014, Molecular vision.

Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes

I. Chowers, D. Sharon, B. Wissinger, 2022, Molecular vision.

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction

K. Stingl, S. Raskin, E. Héon, 2022, International journal of molecular sciences.

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

T. Rosenberg, J. Heckenlively, D. Birch, 2016, Scientific Reports.

Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

P. Sieving, L. Sharpe, E. Zrenner, 2000, Human molecular genetics.

Multimodal imaging including semiquantitative short-wavelength and near-infrared autofluorescence in achromatopsia

J. Sahel, S. Mohand-Said, I. Audo, 2018, Scientific Reports.

Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.

S. Jacobson, B. Lorenz, T. Rosenberg, 2002, American journal of human genetics.

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

S. Bolz, B. Jurklies, J. Heckenlively, 2009, Proceedings of the National Academy of Sciences.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2022, Human mutation.

Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide‐gated channels, resulting in achromatopsia

K. Koeppen, B. Wissinger, S. Kohl, 2008, Human mutation.

Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3R427C and A3R563C

K. Koeppen, B. Wissinger, S. Kohl, 2008, The European journal of neuroscience.

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2005, European Journal of Human Genetics.

Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.

E. Zrenner, T. Rosenberg, B. Wissinger, 2004, Investigative ophthalmology & visual science.

Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin

M. Bonin, M. McKibbin, C. Inglehearn, 2015, Molecular vision.

Mutations in the CNGB 3 gene encoding the β-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia ( ACHM 3 ) linked to chromosome 8 q 21

P. Sieving, L. Sharpe, E. Zrenner, 2000 .

Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy

P. Sieving, N. Tanimoto, S. Beck, 2018, The Journal of clinical investigation.

Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.

E. Zrenner, B. Jurklies, D. Besch, 1997, Biochemical and biophysical research communications.

Five novel CNGB3 gene mutations in Polish patients with achromatopsia

Anna Skorczyk-Werner, A. Wawrocka, Katarzyna Wicher, 2014, Molecular vision.

Dominant Optic Atrophy (DOA) and Sensorineural Hearing Loss: Clinical, Biochemical, Spectroscopic and Molecular Genetic Study of a Large Italian Pedigree Linked to a New Locus on Chromosome 16

B. Barbiroli, P. Barboni, R. Lodi, 2007 .