D H Siegel

Summary

Affiliation: Medical College of Wisconsin
Country: USA

Publications

  1. doi request reprint Copy number variation analysis in 98 individuals with PHACE syndrome
    Dawn H Siegel
    Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
    J Invest Dermatol 133:677-84. 2013
  2. doi request reprint Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development
    D H Siegel
    Department of Dermatology and Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road TBRC, 2nd Floor, Suite C2010, Milwaukee, WI 53226, USA
    Br J Dermatol 166:601-7. 2012
  3. doi request reprint Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature
    Dawn H Siegel
    Department of Dermatology, Medical College of Wisconsin, Milwaukee, WI 53226, USA
    Stroke 43:1672-4. 2012
  4. doi request reprint Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome
    D H Siegel
    Department of Dermatology and Pediatrics, Oregon Health and Science University, Portland, USA
    Br J Dermatol 164:521-9. 2011

Detail Information

Publications4

  1. doi request reprint Copy number variation analysis in 98 individuals with PHACE syndrome
    Dawn H Siegel
    Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
    J Invest Dermatol 133:677-84. 2013
    ..32, 12q24.13, 17q11.2, 18p11.31, and Xq28. There were no rare CNV events that occurred in more than one subject. Therefore, further study is needed to determine the significance of these CNVs in the pathogenesis of PHACE syndrome...
  2. doi request reprint Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development
    D H Siegel
    Department of Dermatology and Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road TBRC, 2nd Floor, Suite C2010, Milwaukee, WI 53226, USA
    Br J Dermatol 166:601-7. 2012
    ..Costello syndrome (CS) is a RASopathy caused by mutations in the HRAS gene, a key regulator of signal transduction...
  3. doi request reprint Stroke in children with posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities (PHACE) syndrome: a systematic review of the literature
    Dawn H Siegel
    Department of Dermatology, Medical College of Wisconsin, Milwaukee, WI 53226, USA
    Stroke 43:1672-4. 2012
    ..The objective of this article is to review all cases of stroke in PHACE in children and describe clinical characteristics that may be associated with an increased risk of AIS...
  4. doi request reprint Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome
    D H Siegel
    Department of Dermatology and Pediatrics, Oregon Health and Science University, Portland, USA
    Br J Dermatol 164:521-9. 2011
    ..Cardiofaciocutaneous (CFC) syndrome is characterized by distinctive craniofacial features, congenital heart defects, and abnormalities of the skin and hair...