T L Young

Summary

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

Publications

  1. 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
  2. ncbi request reprint 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
  3. ncbi request reprint 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
  4. ncbi request reprint Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis
    T L Young
    Department of Ophthalmology, University of Minnesota Medical Center, Minneapolis, Minnesota, USA
    Ophthalmic Genet 22:69-75. 2001
  5. ncbi request reprint Ophthalmic genetics/inherited eye disease
    Terri L Young
    Children s Hospital of Philadelphia, Pennsylvania 19104, USA
    Curr Opin Ophthalmol 14:296-303. 2003
  6. ncbi request reprint 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
  7. ncbi request reprint 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
  8. pmc Evidence that a locus for familial high myopia maps to chromosome 18p
    T L Young
    Department of Ophthalmology, University of Minnesota, Minneapolis, MN 55455, USA
    Am J Hum Genet 63:109-19. 1998
  9. pmc A second locus for familial high myopia maps to chromosome 12q
    T L Young
    Department of Opthalmology, Division of Epidemiology, University of Minnesota, Minneapolis, MN, USA
    Am J Hum Genet 63:1419-24. 1998
  10. ncbi request reprint Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs
    J D Hoffman
    Section of Metabolic Diseases, The Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
    Am J Med Genet A 135:96-8. 2005

Collaborators

Detail Information

Publications24

  1. 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...
  2. ncbi request reprint 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...
  3. ncbi request reprint 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...
  4. ncbi request reprint Further refinement of the MYP2 locus for autosomal dominant high myopia by linkage disequilibrium analysis
    T L Young
    Department of Ophthalmology, University of Minnesota Medical Center, Minneapolis, Minnesota, USA
    Ophthalmic Genet 22:69-75. 2001
    ..31 (Young et al.: Am J Hum Genet 1998;63:109-119). Haplotype analysis revealed an initial interval of 7.6 centimorgans (cM)...
  5. ncbi request reprint 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...
  6. ncbi request reprint 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...
  7. ncbi request reprint 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...
  8. pmc Evidence that a locus for familial high myopia maps to chromosome 18p
    T L Young
    Department of Ophthalmology, University of Minnesota, Minneapolis, MN 55455, USA
    Am J Hum Genet 63:109-19. 1998
    ..The maximum LOD score was 9.59, with marker D18S481, at a recombination fraction of .0010. Haplotype analysis further refined this myopia locus to a 7.6-cM interval between markers D18S59 and D18S1138 on 18p11.31...
  9. pmc A second locus for familial high myopia maps to chromosome 12q
    T L Young
    Department of Opthalmology, Division of Epidemiology, University of Minnesota, Minneapolis, MN, USA
    Am J Hum Genet 63:1419-24. 1998
    ..1-cM interval on chromosome 12q21-23, for the second myopia gene. These results confirm genetic heterogeneity of myopia. The identification of this gene may provide insight into the pathophysiology of myopia and eye development...
  10. ncbi request reprint Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs
    J D Hoffman
    Section of Metabolic Diseases, The Children s Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104, USA
    Am J Med Genet A 135:96-8. 2005
    ..This report emphasizes the difficulty of recognizing this constellation of symptoms as Alström syndrome at an early age, the seriousness of cardiac involvement, and the intra-familial variability of phenotypic expression...
  11. ncbi request reprint 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...
  12. 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...
  13. ncbi request reprint 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...
  14. ncbi request reprint 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...
  15. ncbi request reprint 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...
  16. ncbi request reprint 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 request reprint 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...
  18. ncbi request reprint 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...
  19. ncbi request reprint 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...
  20. ncbi request reprint 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...
  21. ncbi request reprint 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...
  22. ncbi request reprint 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...
  23. ncbi request reprint 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...
  24. 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
    ....