Affiliation: University of Pennsylvania
- Genetic linkage study of high-grade myopia in a Hutterite population from South DakotaSudha Nallasamy
Division of Ophthalmology, Children s Hospital of Philadelphia, Philadelphia, PA, USA
Mol Vis 13:229-36. 2007..1, 7p15.3, 15q12-13, 3q26, 4q12, 8p23, 4q22-q27, 1p36, and Xq23-q25. Here, we demonstrate evidence of linkage for AD non-syndromic high-grade myopia in a large Hutterite family to a locus on chromosome 10q21.1...
- Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation studySudha Nallasamy
Division of Ophthalmology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, USA
Arch Ophthalmol 124:552-7. 2006..To evaluate individuals with Cornelia de Lange syndrome previously screened for mutations in the NIPBL gene for genotype-phenotype correlations with regard to severity of ophthalmologic findings...
- Identification of a novel locus on 2q for autosomal dominant high-grade myopiaPrasuna C Paluru
Divisions of Ophthalmology and
Invest Ophthalmol Vis Sci 46:2300-7. 2005..31, 12q21-q23, 17q21-q23, and 7q36. This is the report of significant linkage to a novel locus on the long arm of chromosome 2 in a large, multigenerational family with AD high-grade myopia...