Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta
Published 2015 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta
Authors
Keywords
-
Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 23, Issue 8, Pages 1042-1050
Publisher
Springer Nature
Online
2015-05-06
DOI
10.1038/ejhg.2015.81
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Evaluation of teriparatide treatment in adults with osteogenesis imperfecta
- (2014) Eric S. Orwoll et al. JOURNAL OF CLINICAL INVESTIGATION
- PLS3 Mutations in X-Linked Osteoporosis with Fractures
- (2013) Fleur S. van Dijk et al. NEW ENGLAND JOURNAL OF MEDICINE
- WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
- (2013) Christine M. Laine et al. NEW ENGLAND JOURNAL OF MEDICINE
- Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
- (2013) Sofie Symoens et al. Orphanet Journal of Rare Diseases
- A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus
- (2012) Oliver Semler et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum
- (2012) Maria Trinidad Puig-Hervás et al. HUMAN MUTATION
- Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined byTMEM38Bmutation
- (2012) Ranad Shaheen et al. JOURNAL OF MEDICAL GENETICS
- COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta
- (2011) Katarina Lindahl et al. HUMAN MUTATION
- Mutations in SERPINF1 cause osteogenesis imperfecta type VI
- (2011) Erica P Homan et al. JOURNAL OF BONE AND MINERAL RESEARCH
- Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
- (2010) Yasemin Alanay et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta
- (2010) Helena E. Christiansen et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genotype–phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I
- (2010) Frank Rauch et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
- (2010) Brian P Kelley et al. JOURNAL OF BONE AND MINERAL RESEARCH
- PPIB Mutations Cause Severe Osteogenesis Imperfecta
- (2009) Fleur S. van Dijk et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- CRTAPandLEPRE1mutations in recessive osteogenesis imperfecta
- (2008) Dustin Baldridge et al. HUMAN MUTATION
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started