Thomas Jefferson University

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Li, Qiaoli
One or more keywords matched the following items that are connected to Li, Qiaoli
Item TypeName
Concept Mutation
Concept Mutation, Missense
Academic Article Administration of vitamin K does not counteract the ectopic mineralization of connective tissues in Abcc6 (-/-) mice, a model for pseudoxanthoma elasticum.
Academic Article Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
Academic Article Pseudoxanthoma elasticum: clinical phenotypes, molecular genetics and putative pathomechanisms.
Academic Article Co-existent pseudoxanthoma elasticum and vitamin K-dependent coagulation factor deficiency: compound heterozygosity for mutations in the GGCX gene.
Academic Article The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum.
Academic Article Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy: Genotypic Overlap with Pseudoxanthoma Elasticum.
Academic Article Spontaneous asj-2J Mutant Mouse as a Model for Generalized Arterial Calcification of Infancy: A Large Deletion/Insertion Mutation in the Enpp1 Gene.
Academic Article Juxta-articular joint-capsule mineralization in CD73 deficient mice: Similarities to patients with NT5E mutations.
Academic Article Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1.
Academic Article Next-generation sequencing for mutation detection in heritable skin diseases: the paradigm of pseudoxanthoma elasticum.
Academic Article The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 gene.
Academic Article The Kindler Syndrome: A Spectrum of FERMT1 Mutations in Iranian Families.
Academic Article Fibroadipose Hyperplasia versus Proteus Syndrome: Segmental Overgrowth with a Mosaic Mutation in the PIK3CA Gene.
Academic Article Abcc6 Knockout Rat Model Highlights the Role of Liver in PPi Homeostasis in Pseudoxanthoma Elasticum.
Academic Article ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
Academic Article Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Academic Article Comment on "Clinical practice guidelines for pseudoxanthoma elasticum (2017)": The importance of mutation analysis.
Academic Article The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
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