Terri L Young

Summary

Affiliation: The Children's Hospital of Philadelphia
Country: USA

Publications

  1. ncbi Differential gene expression in mouse sclera during ocular development
    Jie Zhou
    Division of Ophthalmology, Children s Hospital of Philadelphia, Pennsylvania, USA
    Invest Ophthalmol Vis Sci 47:1794-802. 2006
  2. ncbi X-linked high myopia associated with cone dysfunction
    Terri L Young
    Department of Ophthalmology, University of Minnesota Medical School, Minneapolis, USA
    Arch Ophthalmol 122:897-908. 2004
  3. ncbi Ophthalmic genetics/inherited eye disease
    Terri L Young
    Children s Hospital of Philadelphia, Pennsylvania 19104, USA
    Curr Opin Ophthalmol 14:296-303. 2003
  4. ncbi Identification of genes expressed in a human scleral cDNA library
    Terri L Young
    Division of Ophthalmology, Children s Hospital of Philadelphia and The University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Vis 9:508-14. 2003
  5. ncbi Microarray analysis of gene expression in human donor sclera
    Terri L Young
    Division of Ophthalmology, Children s Hospital of Philadelphia and The University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Vis 10:163-76. 2004
  6. ncbi Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity
    Kelly A Hutcheson
    Department of Ophthalmology, Children s National Medical Center, Washington, DC, USA
    Mol Vis 11:501-8. 2005
  7. pmc Dissecting the genetics of human high myopia: a molecular biologic approach
    Terri L Young
    Department of Ophthalmology, University of Pennsylvania, and The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Trans Am Ophthalmol Soc 102:423-45. 2004
  8. pmc Myopia genetics: a review of current research and emerging trends
    Dana M Hornbeak
    Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA
    Curr Opin Ophthalmol 20:356-62. 2009
  9. ncbi Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations
    Suzanne K Jadico
    University of Pennsylvania School of Medicine, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    J AAPOS 10:435-44. 2006
  10. pmc Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota
    Sudha Nallasamy
    Division of Ophthalmology, Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Mol Vis 13:229-36. 2007

Collaborators

Detail Information

Publications21

  1. ncbi Differential gene expression in mouse sclera during ocular development
    Jie Zhou
    Division of Ophthalmology, Children s Hospital of Philadelphia, Pennsylvania, USA
    Invest Ophthalmol Vis Sci 47:1794-802. 2006
    ..This study was conducted to determine scleral gene expression profiles during mouse ocular development to identify genes involved in normal scleral growth...
  2. ncbi X-linked high myopia associated with cone dysfunction
    Terri L Young
    Department of Ophthalmology, University of Minnesota Medical School, Minneapolis, USA
    Arch Ophthalmol 122:897-908. 2004
    ..We studied a second family from Minnesota with a similar X-linked phenotype, also of Danish descent. All affected males had protanopia instead of deuteranopia...
  3. ncbi Ophthalmic genetics/inherited eye disease
    Terri L Young
    Children s Hospital of Philadelphia, Pennsylvania 19104, USA
    Curr Opin Ophthalmol 14:296-303. 2003
    ..Genetic diseases of the eye and involving the eye continue as a leading cause of blindness in children and adults...
  4. ncbi Identification of genes expressed in a human scleral cDNA library
    Terri L Young
    Division of Ophthalmology, Children s Hospital of Philadelphia and The University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Vis 9:508-14. 2003
    ..Public database sequence comparisons were performed to generate a profile of genes expressed in the human sclera and identify candidate genes for inherited diseases with scleral involvement...
  5. ncbi Microarray analysis of gene expression in human donor sclera
    Terri L Young
    Division of Ophthalmology, Children s Hospital of Philadelphia and The University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Vis 10:163-76. 2004
    ..To develop gene expression profiles of human sclera to allow for the identification of novel, uncharacterized genes in this tissue-type, and to identify candidate genes for scleral disorders...
  6. ncbi Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity
    Kelly A Hutcheson
    Department of Ophthalmology, Children s National Medical Center, Washington, DC, USA
    Mol Vis 11:501-8. 2005
    ..African Americans, for example, are less likely to develop severe degrees of ROP. We screened a large cohort of ethnically diverse patients for mutations in the entire NDP...
  7. pmc Dissecting the genetics of human high myopia: a molecular biologic approach
    Terri L Young
    Department of Ophthalmology, University of Pennsylvania, and The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    Trans Am Ophthalmol Soc 102:423-45. 2004
    ..The purpose of this proposal is to describe the results of positional candidate gene screening of selected genes within the autosomal dominant high-grade myopia-2 locus (MYP2) on chromosome 18p11.31...
  8. pmc Myopia genetics: a review of current research and emerging trends
    Dana M Hornbeak
    Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA
    Curr Opin Ophthalmol 20:356-62. 2009
    ..Ample epidemiologic and molecular genetic studies support heritability of the nonsyndromic forms of this condition...
  9. ncbi Ocular phenotype correlations in patients with TWIST versus FGFR3 genetic mutations
    Suzanne K Jadico
    University of Pennsylvania School of Medicine, Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
    J AAPOS 10:435-44. 2006
    ..We sought to assess possible ocular phenotypic differences in patients with mutations of either gene previously grouped according to phenotype only...
  10. pmc Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota
    Sudha 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...
  11. ncbi Identification of a novel locus on 2q for autosomal dominant high-grade myopia
    Prasuna 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...
  12. ncbi Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia
    Jie Zhou
    Department of Ophthalmology and Genetics, Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Gene 352:10-9. 2005
    ..Although LPIN2 gene was excluded as a candidate for MYP2, the SNPs detected in this study will aid in future mapping and association studies involving this gene...
  13. ncbi Sequence variants in the transforming growth beta-induced factor (TGIF) gene are not associated with high myopia
    Genaro S Scavello
    Division of Ophthalmology, Children s Hospital of Philadelphia, University of Pennsylvania Medical School, Philadelphia, 19104, USA
    Invest Ophthalmol Vis Sci 45:2091-7. 2004
    ..The purpose of this study was to determine whether DNA sequence variants in the human TGIF gene are causally related to MYP2-associated high myopia...
  14. ncbi Exclusion of lumican and fibromodulin as candidate genes in MYP3 linked high grade myopia
    Prasuna C Paluru
    Division of Ophthalmology, Children s Hospital of Philadelphia, University of Pennsylvania Medical School, Philadelphia, PA 19104, USA
    Mol Vis 10:917-22. 2004
    ..We screened individuals for lumican and fibromodulin sequence alterations from the original MYP3 family, and from a second high grade myopia pedigree that showed suggestive linkage to both the MYP3 interval and to chromosome 1q32...
  15. ncbi Genomic structure and organization of the high grade Myopia-2 locus (MYP2) critical region: mutation screening of 9 positional candidate genes
    Genaro S Scavello
    Division of Ophthalmology, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Mol Vis 11:97-110. 2005
    ..31 using 7 families diagnosed with autosomal dominant high myopia and was designated the MYP2 locus. To characterize this region, we analyzed 9 known candidate genes localized to within the 2.2 cM interval by direct sequencing...
  16. ncbi New locus for autosomal dominant high myopia maps to the long arm of chromosome 17
    Prasuna Paluru
    Division of Ophthalmology, Children s Hospital of Philadelphia and The University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 44:1830-6. 2003
    ..To map the gene(s) associated with autosomal dominant (AD) high-grade myopia...
  17. ncbi Ophthalmologic findings in Cornelia de Lange syndrome: a genotype-phenotype correlation study
    Sudha 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...
  18. ncbi Two novel TP63 mutations associated with the ankyloblepharon, ectodermal defects, and cleft lip and palate syndrome: a skin fragility phenotype
    Aimee S Payne
    Department of Dermatology, University of Pennsylvania, 220 Clinical Research Building, 415 Curie Boulevard, Philadelphia, PA 19104, USA
    Arch Dermatol 141:1567-73. 2005
    ..Recent structure-function studies have identified complexities in the genotype-phenotype correlation of the p63 syndromes...
  19. ncbi Ocular abnormalities in Apert syndrome: genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations
    Suzanne K Jadico
    University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    J AAPOS 10:521-7. 2006
    ..This study's goal was to determine ophthalmic phenotype/genotype correlations in patients with either mutation...
  20. ncbi The association of astigmatism and spherical refractive error in a high myopia cohort
    Gena Heidary
    University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Optom Vis Sci 82:244-7. 2005
    ..The purposes of this study were to determine whether the degree of myopia influences the presence and degree of total astigmatism, and to assess risk factors of astigmatism in patients with familial nonsyndromic severe myopia...
  21. pmc Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia
    Ravikanth Metlapally
    Duke University Eye Center, Durham, NC, USA
    Mol Vis 14:387-93. 2008
    ....