Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation

Bone Material Properties in Osteogenesis Imperfecta

(2016) Nick Bishop   JOURNAL OF BONE AND MINERAL RESEARCH

Evidence for a Role for Nanoporosity and Pyridinoline Content in Human Mild Osteogenesis Imperfecta

(2016) Eleftherios P Paschalis et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization

(2016) Nadja Fratzl-Zelman et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Osteogenesis imperfecta

(2016) Antonella Forlino et al.   LANCET

Unique micro- and nano-scale mineralization pattern of human osteogenesis imperfecta type VI bone

(2015) Nadja Fratzl-Zelman et al.   BONE

Type V OI Primary Osteoblasts Display Increased Mineralization Despite DecreasedCOL1A1Expression

(2015) Adi Reich et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Microstructure and compressive mechanical properties of cortical bone in children with osteogenesis imperfecta treated with bisphosphonates compared with healthy children

(2015) Laurianne Imbert et al.   Journal of the Mechanical Behavior of Biomedical Materials

Two mutations inIFITM5causing distinct forms of osteogenesis imperfecta

(2014) Encarna Guillén-Navarro et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

(2014) Syndia Lazarus et al.   BMC MUSCULOSKELETAL DISORDERS

Topological Mapping of BRIL Reveals a Type II Orientation and Effects of Osteogenesis Imperfecta Mutations on Its Cellular Destination

(2014) Alexa Patoine et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A NovelIFITM5Mutation in Severe Atypical Osteogenesis Imperfecta Type VI Impairs Osteoblast Production of Pigment Epithelium-Derived Factor

(2014) Charles R Farber et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients

(2013) Ok-Hwa Kim et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations

(2013) Nadja Fratzl-Zelman et al.   BONE

Hyperosteoidosis and Hypermineralization in the Same Bone: Bone Tissue Analyses in a Boy with a Homozygous BMP1 Mutation

(2013) Heike Hoyer-Kuhn et al.   CALCIFIED TISSUE INTERNATIONAL

Genotype–phenotype study in type V osteogenesis imperfecta

(2013) Meena Balasubramanian et al.   CLINICAL DYSMORPHOLOGY

Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by anIFITM5Mutation

(2013) Jay R Shapiro et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteogenesis imperfecta without features of type V caused by a mutation in theIFITM5gene

(2013) Monica Grover et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A NonclassicalIFITM5Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset

(2013) Heike Hoyer-Kuhn et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A Single Recurrent Mutation in the 5′-UTR of IFITM5 Causes Osteogenesis Imperfecta Type V

(2012) Tae-Joon Cho et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Ultra-structural defects cause low bone matrix stiffness despite high mineralization in osteogenesis imperfecta mice

(2012) Maximilien Vanleene et al.   BONE

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of theIFITM5c.−14C>T mutation in all patients

(2012) Frank Rauch et al.   JOURNAL OF MEDICAL GENETICS

NIH Image to ImageJ: 25 years of image analysis

(2012) Caroline A Schneider et al.   NATURE METHODS

COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta

(2011) Katarina Lindahl et al.   HUMAN MUTATION

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice

(2010) Nobutaka Hanagata et al.   JOURNAL OF BONE AND MINERAL METABOLISM

Normative data on mineralization density distribution in iliac bone biopsies of children, adolescents and young adults

(2009) N. Fratzl-Zelman et al.   BONE

CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII

(2009) N. Fratzl-Zelman et al.   BONE

Evidence that Abnormal High Bone Mineralization in Growing Children with Osteogenesis Imperfecta is not Associated with Specific Collagen Mutations

(2008) Paul Roschger et al.   CALCIFIED TISSUE INTERNATIONAL

Bril: A Novel Bone-Specific Modulator of Mineralization

(2008) Pierre Moffatt et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Bone mineralization density distribution in health and disease

(2007) P. Roschger et al.   BONE