M. Broghammer

发表

CNGA3 mutations in hereditary cone photoreceptor disorders.

S. Jacobson, R. Salati, L. Sharpe, 2001, American journal of human genetics.

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.

A genetic perspective on myopia

E. Zrenner, C. Pusch, Martina Broghammer, 2005, Cellular and Molecular Life Sciences CMLS.

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 .

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

A. Chapelle, B. Lorenz, E. Zrenner, 2002, European Journal of Human Genetics.

Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.

U. Stephani, G. Nürnberg, C. Becker, 2008, International journal of molecular medicine.

Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1

E. Zrenner, A. Meindl, W. Berger, 2000, Human Genetics.

Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11.

S. Jacobson, L. Sharpe, E. Zrenner, 1998, Genomics.

Reduced expression of connexin 31.1 in larynx cancer is not caused by GJB5 mutations.

C. Pusch, N. Blin, P. Leistenschneider, 2004, Cancer letters.

Population Haplotypes of Exon ORF15 of the Retinitis Pigmentosa GTPase Regulator Gene in Germany

C. Pusch, N. Blin, Martina Broghammer, 2012, Molecular Diagnosis & Therapy.

Voltage‐induced release of nucleic acids from palaeontological samples

I. Giddings, L. Bachmann, C. Pusch, 2000, Electrophoresis.

Review A genetic perspective on myopia

C. Pusch, Martina Broghammer, F. Jacobi, 2005 .

Ten novel ORF15 mutations confirm mutational hot spot in the RPGR gene in European patients with X‐linked retinitis pigmentosa

B. Jurklies, D. Besch, C. Pusch, 2002, Human mutation.

Molecular phylogenetics employing modern and ancient DNA.

C. Pusch, N. Blin, Martina Broghammer, 2003, Journal of applied genetics.

A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.

C. Pusch, N. Blin, Martina Broghammer, 2003, American journal of ophthalmology.