Virginia P Sybert

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. pmc Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1
    V P Sybert
    Departments of Pediatrics, University of Washington School of Medicine, Children s Hospital and Medical Center, Division of Dermatology, CH 25, 4800 Sand Point Way NE, P O Box 5371, Seattle, WA 98105, USA Julie S
    Am J Hum Genet 64:732-8. 1999
  2. doi Genetic counseling in epidermolysis bullosa
    Virginia P Sybert
    Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA
    Dermatol Clin 28:239-43, viii. 2010
  3. ncbi Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia
    Amy Y Jan
    Division of Dermatology, Department of Medicine, University of Washington, Seattle, WA, USA
    J Invest Dermatol 122:1108-13. 2004
  4. ncbi Phenotype and X inactivation in 45,X/46,X,r(X) cases
    Kathleen A Leppig
    Genetic Services, Group Health Permanente, Seattle, Washington 98112, USA
    Am J Med Genet A 128:276-84. 2004
  5. ncbi Hereditary woolly hair and keratosis pilaris
    Andy J Chien
    Division of Dermatology, University of Washington, Seattle, Washington, USA
    J Am Acad Dermatol 54:S35-9. 2006

Detail Information

Publications5

  1. pmc Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1
    V P Sybert
    Departments of Pediatrics, University of Washington School of Medicine, Children s Hospital and Medical Center, Division of Dermatology, CH 25, 4800 Sand Point Way NE, P O Box 5371, Seattle, WA 98105, USA Julie S
    Am J Hum Genet 64:732-8. 1999
    ..These findings reveal that a clinical phenotype distinct from classic BCIE but with similar histology can result from K1 mutations and that mutations at this codon give rise to a clinically unique condition...
  2. doi Genetic counseling in epidermolysis bullosa
    Virginia P Sybert
    Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA
    Dermatol Clin 28:239-43, viii. 2010
    ..The genetic counselor needs to be informed and informative and answer all the needs of the patients and their families reliably both at the initial consultation and subsequently as needed over the course of the patient's life...
  3. ncbi Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia
    Amy Y Jan
    Division of Dermatology, Department of Medicine, University of Washington, Seattle, WA, USA
    J Invest Dermatol 122:1108-13. 2004
    ..3, and Cx31, may be required...
  4. ncbi Phenotype and X inactivation in 45,X/46,X,r(X) cases
    Kathleen A Leppig
    Genetic Services, Group Health Permanente, Seattle, Washington 98112, USA
    Am J Med Genet A 128:276-84. 2004
    ....
  5. ncbi Hereditary woolly hair and keratosis pilaris
    Andy J Chien
    Division of Dermatology, University of Washington, Seattle, Washington, USA
    J Am Acad Dermatol 54:S35-9. 2006
    ..Woolly hair elicits a broad differential diagnosis, including woolly hair nevus and several genodermatoses. Our report reviews the evaluation of woolly hair and discusses the conditions associated with this physical finding...