Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

(2017) Polona Le Quesne Stabej et al.   Orphanet Journal of Rare Diseases

A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern

(2017) T. Rolvien et al.   OSTEOPOROSIS INTERNATIONAL

Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to aCOL1A2cleavage site mutation

(2016) Gen Nishimura et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic variability in patients with osteogenesis imperfecta caused byBMP1mutations

(2016) Rebecca C. Pollitt et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Osteogenesis imperfecta in children and adolescents—new developments in diagnosis and treatment

(2016) P. Trejo et al.   OSTEOPOROSIS INTERNATIONAL

Identification andIn VivoFunctional Characterization of Novel Compound HeterozygousBMP1Variants in Osteogenesis Imperfecta

(2015) Sung Yoon Cho et al.   HUMAN MUTATION

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to BiallelicBMP1Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta

(2015) Delfien Syx et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Report of a newly indentified patient with mutations inBMP1and underlying pathogenetic aspects

(2014) María Valencia et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

COL1A1C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

(2014) A. M. McInerney-Leo et al.   CLINICAL GENETICS

A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children

(2014) Somayyeh Fahiminiya et al.   HUMAN MOLECULAR GENETICS

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

Association of Calcium and Phosphate Ions with Collagen in the Mineralization of Vertebrate Tissues

(2013) William J. Landis et al.   CALCIFIED TISSUE INTERNATIONAL

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

Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish

(2012) P.V. Asharani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Recent Advances in Osteogenesis Imperfecta

(2012) Tim Cundy   CALCIFIED TISSUE INTERNATIONAL

Biomineralization Mechanisms: A New Paradigm for Crystal Nucleation in Organic Matrices

(2012) Arthur Veis et al.   CALCIFIED TISSUE INTERNATIONAL

Standardized nomenclature, symbols, and units for bone histomorphometry: A 2012 update of the report of the ASBMR Histomorphometry Nomenclature Committee

(2012) David W Dempster et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The importance of the SIBLING family of proteins on skeletal mineralisation and bone remodelling

(2012) Katherine A Staines et al.   JOURNAL OF ENDOCRINOLOGY

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

(2011) Katarina Lindahl et al.   HUMAN MUTATION

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta

(2011) Víctor Martínez-Glez et al.   HUMAN MUTATION

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

The role of collagen in bone apatite formation in the presence of hydroxyapatite nucleation inhibitors

(2010) Fabio Nudelman et al.   NATURE MATERIALS

Autosomal dominant gigantiform cementoma associated with bone fractures

(2008) Mohammad Moshref et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bone mineralization density distribution in health and disease

(2007) P. Roschger et al.   BONE