Emily Chen

Summary

Affiliation: Kaiser Permanente
Country: USA

Publications

  1. ncbi Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14)
    Emily Chen
    Department of Genetics, Kaiser Permanente Medical Group, Oakland, CA 94611, USA
    Am J Med Genet A 132:164-70. 2005
  2. ncbi Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation
    Emily Chen
    Department of Genetics, Kaiser Medical Center, San Jose, California, USA
    Am J Med Genet A 146:2785-90. 2008
  3. ncbi Ring chromosome 15: characterization by array CGH
    Ian A Glass
    Department of Pediatrics, University of Washington, M2 9, 4800 Sand Point Way NE, Seattle, 98105, USA
    Hum Genet 118:611-7. 2006
  4. ncbi Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype
    Prateek A Gupta
    Department of Internal Medicine, University of Texas Houston Medical School, Houston, Texas, USA
    Hum Mutat 19:39-48. 2002
  5. ncbi A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus
    Cagri Yildirim-Toruner
    Department of Microbiology and Molecular Genetics, UMDNJ, Newark, New Jersey 07103, USA
    Am J Med Genet A 131:281-6. 2004

Collaborators

Detail Information

Publications5

  1. ncbi Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14)
    Emily Chen
    Department of Genetics, Kaiser Permanente Medical Group, Oakland, CA 94611, USA
    Am J Med Genet A 132:164-70. 2005
    ..This family is an example of recurrent malsegregation with translocations involving the acrocentrics...
  2. ncbi Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation
    Emily Chen
    Department of Genetics, Kaiser Medical Center, San Jose, California, USA
    Am J Med Genet A 146:2785-90. 2008
    ....
  3. ncbi Ring chromosome 15: characterization by array CGH
    Ian A Glass
    Department of Pediatrics, University of Washington, M2 9, 4800 Sand Point Way NE, Seattle, 98105, USA
    Hum Genet 118:611-7. 2006
    ..These cases illustrate the utility of array CGH characterization for determining the size of the associated deletion in ring chromosomes and for facilitating phenotype-genotype correlations...
  4. ncbi Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype
    Prateek A Gupta
    Department of Internal Medicine, University of Texas Houston Medical School, Houston, Texas, USA
    Hum Mutat 19:39-48. 2002
    ..These studies have implications for our understanding of the molecular basis of CCA, along with the diagnosis and genetic counseling of CCA patients...
  5. ncbi A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus
    Cagri Yildirim-Toruner
    Department of Microbiology and Molecular Genetics, UMDNJ, Newark, New Jersey 07103, USA
    Am J Med Genet A 131:281-6. 2004
    ..This novel phenotype, LD/renal disease/type 2 diabetes, might be the result of a combination of the nt 1006--1007 insA and the upstream UTR homozygous T polymorphism...