Prof.dr. F.P.M. Cremers

Update Persondata

• biology
• diseases
• genetics
• hereditary
• molecular

Active as

Publications

(the most recent at the top)

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene

Late onset retinitis pigmentosa.

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

Identification of novel mutations in pakistani families with autosomal recessive retinitis pigmentosa

All publications..

Current research

(the most recent research is at the top)
Project leader	The best of both worlds: a genome-wide search for novel sensory disease genes using consanguineous and nonconsanguineous families

Completed research projects

(the most recent research is at the top)
Supervisor	Molecular mechanisms of cilium dysfunction
Project leader	Retinal degeneration and control of cell polarity
Project leader	Elucidation of the molecular mechanism underlying CRB1-associated blindness
Project leader	Temperature gradient capillary electrophoresis platform for mutation scanning

Classification

D21400	Genetics