Marjorie J. Lindhurst
Publications by Year
Research Areas
Vascular Malformations and Hemangiomas, Genetic and rare skin diseases., Tumors and Oncological Cases, Vascular Malformations Diagnosis and Treatment, Soft tissue tumor case studies
Most-Cited Works
- → A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome(2011)880 cited
- → PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation(2014)554 cited
- → Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA(2012)317 cited
- → Clinical delineation and natural history of the PIK3CA‐related overgrowth spectrum(2014)305 cited
- → Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy(2018)280 cited
- → Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum(2018)155 cited
- → Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia(2006)155 cited
- → Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis(2016)107 cited
- → Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome(2019)92 cited
- → Three Tightly Linked Genes Encoding Human Type I Keratins: Conservation of Sequence in the 5′-Untranslated Leader and 5′-Upstream Regions of Coexpressed Keratin Genes(1986)75 cited