Franziska Ringpfeil

Summary

Affiliation: Thomas Jefferson University
Country: USA

Publications

  1. ncbi request reprint Selected disorders of connective tissue: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis
    Franziska Ringpfeil
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA 19107, USA
    Clin Dermatol 23:41-6. 2005
  2. ncbi request reprint Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity
    Franziska Ringpfeil
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 126:782-6. 2006
  3. pmc Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene
    Dessislava Markova
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Am J Hum Genet 72:998-1004. 2003
  4. pmc Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy
    Jennifer Larusso
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    Clin Transl Sci 3:295-8. 2010
  5. ncbi request reprint Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    J Investig Dermatol Symp Proc 7:6-16. 2002
  6. ncbi request reprint Ehlers-Danlos syndrome-molecular genetics beyond the collagens
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 122:xii-xiii. 2004

Collaborators

  • Jouni Uitto
  • M Lebwohl
  • Jennifer Larusso
  • Dessislava Markova
  • Mon Li Chu
  • G√ľnter Kostka
  • Takako Sasaki
  • Rupert Timpl
  • Yaqun Zou

Detail Information

Publications6

  1. ncbi request reprint Selected disorders of connective tissue: pseudoxanthoma elasticum, cutis laxa, and lipoid proteinosis
    Franziska Ringpfeil
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA 19107, USA
    Clin Dermatol 23:41-6. 2005
    ....
  2. ncbi request reprint Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity
    Franziska Ringpfeil
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 126:782-6. 2006
    ..Missense mutations were frequently detected in the latter cases. In conclusion, PXE is inherited in an autosomal recessive manner and presence of disease in two generations is due to pseudodominance...
  3. pmc Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene
    Dessislava Markova
    Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Am J Hum Genet 72:998-1004. 2003
    ..The results demonstrate that a heterozygous mutation in fibulin-5 can cause cutis laxa and also suggest that fibulin-5 and elastin gene mutations are not the exclusive cause of the disease...
  4. pmc Pseudoxanthoma elasticum: a streamlined, ethnicity-based mutation detection strategy
    Jennifer Larusso
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    Clin Transl Sci 3:295-8. 2010
    ..This will facilitate the identification of individuals at risk, improving their care to prevent ophthalmological and vascular disease...
  5. ncbi request reprint Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    J Investig Dermatol Symp Proc 7:6-16. 2002
    ..This overview presented in the 50th Annual Symposium on the biology of the skin, highlights the progress made in the molecular genetics of heritable skin diseases over the past decade...
  6. ncbi request reprint Ehlers-Danlos syndrome-molecular genetics beyond the collagens
    Jouni Uitto
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania, USA
    J Invest Dermatol 122:xii-xiii. 2004