Physician

Ophthalmology

Dr. Irene H. Maumenee, MD

Irene Maumenee works in the field of Ophthalmology. Irene Maumenee is also published. He has 12 publications published. The lastest publication: "Systemic Diagnostic Testing in Patients With Apparently Isolated Uveal Coloboma.'

Publications

Systemic Diagnostic Testing in Patients With Apparently Isolated Uveal Coloboma.
IQCB1 mutations in patients with leber congenital amaurosis.
Aniridia with preserved visual function: a report of four cases with no mutations in PAX6.
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
Delivery from episcleral exoplants.
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

Schools

University of Medicine G246ttingen
Med University Of Geneve
Johns Hopkins University

Doctors Specialties

Clinical Genetics
Ophthalmology

Accepted Insurances

Southern Health PPO
First Health (Coventry Health Care) PPO

Education

Johns Hopkins University

Hospital

University of Illinois Hospital & Health Sciences System

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