Emily Chen

Summary

Affiliation: Kaiser Permanente
Country: USA

Publications

  1. ncbi request reprint 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. doi request reprint 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 request reprint 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 request reprint 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 request reprint 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 request reprint 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. doi request reprint 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 request reprint 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 request reprint 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 request reprint 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...