A. Germain

发表

A new regulation of IL-6 production in adult cardiomyocytes by beta-adrenergic and IL-1 beta receptors and induction of cellular hypertrophy by IL-6 trans-signalling.

R. Fischmeister, F. Lefebvre, Nicolas Szabo-Fresnais, 2010, Cellular signalling.

RP1 and autosomal dominant rod–cone dystrophy: Novel mutations, a review of published variants, and genotype–phenotype correlation

J. Sahel, S. Bhattacharya, I. Audo, 2012, Human mutation.

Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort

J. Sahel, S. Bhattacharya, I. Audo, 2011, Human mutation.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Olivier Poch, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, 2012, American journal of human genetics.

CRB1 mutations in inherited retinal dystrophies

T. Léveillard, J. Sahel, S. Bhattacharya, 2012, Human mutation.

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

T. Léveillard, J. Sahel, S. Bhattacharya, 2012, Orphanet Journal of Rare Diseases.

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

V. Drouin‐Garraud, D. Bonneau, R. Fischmeister, 2006, Journal of Medical Genetics.

A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

J. Sahel, S. Bhattacharya, I. Audo, 2011, Molecular vision.

RP1 and autosomal dominant rod–cone dystrophy: Novel mutations, a review of published variants, and genotype–phenotype correlation

J. Sahel, S. Bhattacharya, I. Audo, 2012, Human Mutation.

Development and Application of a Next-generation- Sequencing (ngs) Approach to Detect Known and Novel Gene Defects Underlying Retinal Diseases

T. Léveillard, I. Audo, S. Mohand-Saïd, 2022 .

A new regulation of IL-6 production in adult cardiomyocytes by beta-adrenergic and IL-1 beta receptors and induction of cellular hypertrophy by IL-6 trans-signalling.

R. Fischmeister, F. Lefebvre, A. Germain, 2010, Cellular signalling.