Related references
Note: Only part of the references are listed.Impact of FasL Stimulation on Sclerostin Expression and Osteogenic Profile in IDG-SW3 Osteocytes
Adela Kratochvilova et al.
BIOLOGY-BASEL (2021)
Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta
Lei Xi et al.
JOURNAL OF BONE AND MINERAL METABOLISM (2021)
Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands
Yousuke Higuchi et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2021)
Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta
Lidiia Zhytnik et al.
CTS-CLINICAL AND TRANSLATIONAL SCIENCE (2020)
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2
Fleur S. van Dijk et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta
Shan Li et al.
FRONTIERS IN GENETICS (2020)
Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy
Masafumi Kashii et al.
JOURNAL OF BONE AND MINERAL METABOLISM (2019)
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients
Margherita Maioli et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta
Lulu Li et al.
HUMAN MUTATION (2019)
COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients
Lidiia Zhytnik et al.
FRONTIERS IN GENETICS (2019)
Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta
Shahida Moosa et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2019)
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta
Julia Mrosk et al.
BONE (2018)
Osteogenesis imperfecta - A clinical update
Symeon Tournis et al.
METABOLISM-CLINICAL AND EXPERIMENTAL (2018)
Osteogenesis imperfecta and the teeth, eyes, and earsa study of non-skeletal phenotypes in adults
J. D. Hald et al.
OSTEOPOROSIS INTERNATIONAL (2018)
Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing
Y. Liu et al.
OSTEOPOROSIS INTERNATIONAL (2017)
Osteogenesis imperfecta
Joan C. Marini et al.
NATURE REVIEWS DISEASE PRIMERS (2017)
IFITM5 mutations and osteogenesis imperfecta
Nobutaka Hanagata
JOURNAL OF BONE AND MINERAL METABOLISM (2016)
Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment
Atsuko Sato et al.
BONE (2016)
Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta
Hao Zhang et al.
MOLECULAR MEDICINE REPORTS (2016)
DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum
G. Bardai et al.
OSTEOPOROSIS INTERNATIONAL (2016)
Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta
Binh Ho Duy et al.
HUMAN GENOMICS (2016)
Fate of growth plate hypertrophic chondrocytes: Death or lineage extension?
Kwok Yeung Tsang et al.
DEVELOPMENT GROWTH & DIFFERENTIATION (2015)
Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta (vol 23, pg 1112, 2015)
Katarina Lindahl et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
Intravenous Bisphosphonate Therapy of Young Children With Osteogenesis Imperfecta: Skeletal Findings During Follow Up Throughout the Growing Years
Telma Palomo et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2015)
HISAT: a fast spliced aligner with low memory requirements
Daehwan Kim et al.
NATURE METHODS (2015)
HTSeq-a Python framework to work with high-throughput sequencing data
Simon Anders et al.
BIOINFORMATICS (2015)
Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
F. S. Van Dijk et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta
Joshi Stephen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2014)
Hypertrophic chondrocytes can become osteoblasts and osteocytes in endochondral bone formation
Liu Yang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3
Pablo Cingolani et al.
FLY (2012)
Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks
Cole Trapnell et al.
NATURE PROTOCOLS (2012)
Targeted Amplicon Sequencing (TAS): A Scalable Next-Gen Approach to Multilocus, Multitaxa Phylogenetics
Seth M. Bybee et al.
GENOME BIOLOGY AND EVOLUTION (2011)
New perspectives on osteogenesis imperfecta
Antonella Forlino et al.
NATURE REVIEWS ENDOCRINOLOGY (2011)
Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I
Frank Rauch et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2010)
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
Aaron McKenna et al.
GENOME RESEARCH (2010)
SITAR-a useful instrument for growth curve analysis
Tim J. Cole et al.
INTERNATIONAL JOURNAL OF EPIDEMIOLOGY (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Clinical Review: Bisphosphonate Use in Childhood Osteoporosis
Laura K. Bachrach et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
Consortium for osteogeneslis imperfecta mutations in the helical domain of type I collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans
Joan C. Marini et al.
HUMAN MUTATION (2007)
Runx2 overexpression enhances osteoblastic differentiation and mineralization in adipose -: derived stem cells in vitro and in vivo
X. Zhang et al.
CALCIFIED TISSUE INTERNATIONAL (2006)
The transcriptional basis of adipocyte development
ED Rosen
PROSTAGLANDINS LEUKOTRIENES AND ESSENTIAL FATTY ACIDS (2005)
Height and weight development during four years of therapy with cyclical intravenous pamidronate in children and adolescents with osteogenesis imperfecta types I, III, and IV
L Zeitlin et al.
PEDIATRICS (2003)
Beneficial effect of long term intravenous bisphosphonate treatment of osteogenesis imperfecta
E Åström et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2002)
Share Paper
