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Expert Opinion on Medical Diagnostics|March 15, 2013
Pseudoxanthoma elasticum: genetic diagnostic markersEllen G Pfendner, Jouni Uitto, Gary F Gerard, et al.
The Journal of Investigative Dermatology|August 16, 2005
Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosisEllen G Pfendner, Sara G Sadowski, Jouni Uitto
Pediatric Dermatology|April 24, 2008
Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafnessSarah Weinel, Anne W Lucky, Jouni Uitto, et al.
Prenatal Diagnosis|June 19, 2003
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at riskEllen G Pfendner, Aoi Nakano, Leena Pulkkinen, et al.
American Journal of Medical Genetics. Part A|June 15, 2011
Pseudoxanthoma elasticum: progress in diagnostics and research towards treatment : Summary of the 2010 PXE International Research MeetingJouni Uitto, Lionel Bercovitch, Sharon F Terry, et al.
The Journal of Investigative Dermatology|February 24, 2016
Research Progress in Pseudoxanthoma Elasticum and Related Ectopic Mineralization DisordersQiaoli Li, Tamás Arányi, András Váradi, et al.
Expert Opinion on Orphan Drugs|November 11, 2014
PSEUDOXANTHOMA ELASTICUM: DIAGNOSTIC FEATURES, CLASSIFICATION, AND TREATMENT OPTIONSJouni Uitto, Qiujie Jiang, András Váradi, et al.
The Journal of Investigative Dermatology|March 26, 2017
Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the PXE International Biennial Research Symposium-2016Jouni Uitto, Qiaoli Li, Koen van de Wetering, et al.
Cell Cycle (Georgetown, Tex.)|January 22, 2015
The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 geneQiaoli Li, John P Sundberg, Michael A Levine, et al.
International Journal of Dermatology and Venereology|December 20, 2021
Kidney Stones are Prevalent in Individuals with Pseudoxanthoma Elasticum, a Genetic Ectopic Mineralization DisorderDouglas Ralph, Rina Allawh, Ian F Terry, et al.
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