Uschi Lindert
Zurich, ZH, Switzerland
Last Updated: 09/26/2026
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Found 11 publications
Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta.
Journal: Frontiers in genetics
Published: February 01, 2021
Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta.
Journal: Calcified tissue international
Published: September 25, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 03, 2017
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
Journal: Nature communications
Published: December 01, 2015
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 01, 2015
Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.
Journal: Orphanet journal of rare diseases
Published: June 18, 2015
Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.
Journal: The Journal of biological chemistry
Published: April 24, 2015
Genotype-phenotype study in type V osteogenesis imperfecta.
Journal: Clinical dysmorphology
Published: April 25, 2013
The taste of heavy metals: gene regulation by MTF-1.
Journal: Biochimica et biophysica acta
Published: November 16, 2011
Showing 1-11 of 11
Last Updated: 09/26/2026