Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

(2018) Lucía Sentchordi-Montané et al.   CLINICAL ENDOCRINOLOGY

Long-term follow-up in osteogenesis imperfecta type VI

(2017) P. Trejo et al.   OSTEOPOROSIS INTERNATIONAL

Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia

(2017) Heeseog Kang et al.   Translational Research

Fracture Rates and Fracture Sites in Patients With Osteogenesis Imperfecta: A Nationwide Register-Based Cohort Study

(2016) Lars Folkestad et al.   JOURNAL OF BONE AND MINERAL RESEARCH

DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum

(2016) G. Bardai et al.   OSTEOPOROSIS INTERNATIONAL

Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta

(2015) Katarina Lindahl et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Antiangiogenic and antifibrogenic activity of pigment epithelium-derived factor (PEDF) in bile duct-ligated portal hypertensive rats

(2014) Marc Mejias et al.   GUT

Two years’ experience with denosumab for children with Osteogenesis imperfecta type VI

(2014) Heike Hoyer-Kuhn et al.   Orphanet Journal of Rare Diseases

Lack of Circulating Pigment Epithelium-Derived Factor Is a Marker of Osteogenesis Imperfecta Type VI

(2012) Frank Rauch et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

(2011) Jutta Becker et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pigment Epithelium-Derived Factor Regulates Lipid Metabolism via Adipose Triglyceride Lipase

(2011) M. L. Borg et al.   DIABETES

Pigment epithelium-derived factor (PEDF) protects cortical neurons in vitro from oxidant injury by activation of extracellular signal-regulated kinase (ERK) 1/2 and induction of Bcl-2

(2011) A. Sanchez et al.   NEUROSCIENCE RESEARCH

The Pathophysiological Role of PEDF in Bone Diseases

(2010) M.L. Broadhead et al.   CURRENT MOLECULAR MEDICINE

PEDF regulates osteoclasts via osteoprotegerin and RANKL

(2009) Toru Akiyama et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS