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IRENE MAUMENEE, M.D.
M.D.
Ophthalmology Physician
NPI: 1942259031Individual
Specialties, Licenses & Credentials
Ophthalmology PhysicianPrimary
Ophthalmology
Code: 207W00000X
D14859(MD)
Research & Publications (20)
Aniridia with preserved visual function: a report of four cases with no mutations in PAX6.
PMID 18243151·Am J Ophthalmol·2008
5-case
Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization.
PMID 18363166·Ophthalmic Genet·2008
8-other
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.
PMID 18055821·Invest Ophthalmol Vis Sci·2007
8-other
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
PMID 17546029·Nat Genet·2007
7-preclinical
Juvenile cataracts in a patient with histidinuria: case report.
PMID 17148044·Ophthalmic Genet·2006
5-case
A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.
PMID 16543197·Ophthalmic Genet·2006
4-observational
SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.
PMID 16145681·Am J Med Genet A·2005
5-case
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.
PMID 15976030·Proc Natl Acad Sci U S A·2005
4-observational
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.
PMID 16123401·Invest Ophthalmol Vis Sci·2005
4-observational
Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.
PMID 16123441·Invest Ophthalmol Vis Sci·2005
8-other
Posterior polar cataract: genetic analysis of a large family.
PMID 16272057·Ophthalmic Genet·2005
8-other
Unilateral isolated microphthalmia inherited as an autosomal recessive trait.
PMID 16352476·Ophthalmic Genet·2005
5-case
Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.
PMID 15123990·Mol Vis·2004
4-observational
The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.
PMID 15249368·Arch Ophthalmol·2004
4-observational
A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.
PMID 15512997·Ophthalmic Genet·2004
8-other
Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.
PMID 14961560·Hum Mutat·2003
8-other
Identification of a locus (LCA9) for Leber's congenital amaurosis on chromosome 1p36.
PMID 12734549·Eur J Hum Genet·2003
8-other
Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.
PMID 12365911·Arch Ophthalmol·2002
5-case
The ateliotic macula: a newly recognized developmental anomaly.
PMID 11797324·Trans Am Ophthalmol Soc·2001
5-case
Data courtesy of the U.S. National Library of Medicine (NLM). Ltrl is not affiliated with or endorsed by NLM.
Contact & Hours
- Address
- 10755 FALLS RD
LUTHERVILLE, MD 21093 - Phone
- (410) 583-2800
Quick Facts
- NPI
- 1942259031
- Entity Type
- Individual
- Gender
- Female
- Medicare
- Not confirmed
- Specialties
- 1
- Locations
- 1
- Publications
- 20
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