Reduced L- and M- and increased S-cone functions in an infant with thyroid hormone resistance due to mutations in theTHRβ2gene

Thyroid Hormone Receptor Beta Gene Mutation (P453A) in a Family Producing Resistance to Thyroid Hormone

(2009) T. Bayraktaroglu et al.   EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES

Genotyping of resistance to thyroid hormone in South American population. Identification of seven novel missense mutations in the human thyroid hormone receptor β gene

(2009) Carina M. Rivolta et al.   MOLECULAR AND CELLULAR PROBES

Genetic Etiology and Clinical Consequences of Complete and Incomplete Achromatopsia

(2009) Alberta A.H.J. Thiadens et al.   OPHTHALMOLOGY

Retinoid-related orphan nuclear receptor ROR  is an early-acting factor in rod photoreceptor development

(2009) L. Jia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2009) B. Chang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A thyroid hormone receptor mutation that dissociates thyroid hormone regulation of gene expression in vivo

(2009) D. S. Machado et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

ISCEV Standard for full-field clinical electroretinography (2008 update)

(2008) M. F. Marmor et al.   DOCUMENTA OPHTHALMOLOGICA

NeuroD1 Regulates Expression of Thyroid Hormone Receptor 2 and Cone Opsins in the Developing Mouse Retina

(2008) H. Liu et al.   JOURNAL OF NEUROSCIENCE

In vivo imaging of the photoreceptor mosaic of a rod monochromat

(2008) Joseph Carroll et al.   VISION RESEARCH

Regulation of photoreceptor gene expression by Crx-associated transcription factor network

(2007) Anne K. Hennig et al.   BRAIN RESEARCH