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Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

American journal of human genetics, 2010-03, Vol.86 (3), p.389-398

2010

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Mechanical and mineral properties of osteogenesis imperfecta human bones at the tissue level

Bone (New York, N.Y.), 2014-08, Vol.65, p.18-24

2014

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Alendronate for the Treatment of Pediatric Osteogenesis Imperfecta: A Randomized Placebo-Controlled Study

The journal of clinical endocrinology and metabolism, 2011-02, Vol.96 (2), p.355-364

2011

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Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding

The New England journal of medicine, 2010-02, Vol.362 (6), p.521-528

2010

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Osteogenesis Imperfecta Type VI: A Form of Brittle Bone Disease with a Mineralization Defect

Journal of bone and mineral research, 2002-01, Vol.17 (1), p.30-38

2002

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Therapeutic impact of low amplitude high frequency whole body vibrations on the osteogenesis imperfecta mouse bone

Bone (New York, N.Y.), 2013-04, Vol.53 (2), p.507-514

2013

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Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

Human molecular genetics, 2009-02, Vol.18 (3), p.463-471

2009

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Comparison of bone tissue properties in mouse models with collagenous and non-collagenous genetic mutations using FTIRI

Bone (New York, N.Y.), 2012-11, Vol.51 (5), p.920-928

2012

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

Bone (New York, N.Y.), 2010-03, Vol.46 (3), p.820-826

2010

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High- and low-dose OPG–Fc cause osteopetrosis-like changes in infant mice

Pediatric research, 2012-11, Vol.72 (5), p.495-501

2012

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Cyclic Administration of Pamidronate in Children with Severe Osteogenesis Imperfecta

The New England journal of medicine, 1998-10, Vol.339 (14), p.947-952

1998

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Serum 24,25-Dihydroxyvitamin D Concentrations in Osteogenesis Imperfecta: Relationship to Bone Parameters

The journal of clinical endocrinology and metabolism, 2012-04, Vol.97 (4), p.1243-1249

2012

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Bone Mass, Size, and Density in Children and Adolescents With Osteogenesis Imperfecta: Effect of Intravenous Pamidronate Therapy

Journal of bone and mineral research, 2003-04, Vol.18 (4), p.610-614

2003

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Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix

Clinical genetics, 2012-11, Vol.82 (5), p.453-459

2012

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Long-bone changes after pamidronate discontinuation in children and adolescents with osteogenesis imperfecta

Bone (New York, N.Y.), 2007-04, Vol.40 (4), p.821-827

2007

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Immature Osteoblast Lineage Cells Increase Osteoclastogenesis in Osteogenesis Imperfecta Murine

The American journal of pathology, 2010-05, Vol.176 (5), p.2405-2413

2010

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Pregnancy- and lactation-associated transient osteoporosis of both hips in a 32 year old patient with osteogenesis imperfecta

Bone (New York, N.Y.), 2012-07, Vol.51 (1), p.142-144

2012

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Severe osteogenesis imperfecta caused by a small in‐frame deletion in CRTAP

American journal of medical genetics. Part A, 2011-11, Vol.155 (11), p.2865-2870

2011

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Intravenous Neridronate in Adults With Osteogenesis Imperfecta

Journal of bone and mineral research, 2003-01, Vol.18 (1), p.126-130

2003

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Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes

Human genetics, 2010, Vol.127 (1), p.33-44

2010

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Positive Linear Growth and Bone Responses to Growth Hormone Treatment in Children With Types III and IV Osteogenesis Imperfecta: High Predictive Value of the Carboxyterminal Propeptide of Type I Procollagen

Journal of bone and mineral research, 2003-02, Vol.18 (2), p.237-243

2003

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Bone turnover and type I collagen C-telopeptide isomerization in adult osteogenesis imperfecta: Associations with collagen gene mutations

Bone (New York, N.Y.), 2009-03, Vol.44 (3), p.461-466

2009

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Myocardial Mechanics and Collagen Structure in the Osteogenesis Imperfecta Murine (oim)

Circulation research, 2000-10, Vol.87 (8), p.663-669

2000

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Rnai of COL1A1 in mesenchymal progenitor cells

European journal of human genetics : EJHG, 2004-10, Vol.12 (10), p.864-866

2004

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Malformations And Congenital And Or Hereditary Diseases Involving Bones. Joint Deformations
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Osteogenesis Imperfecta
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Homozygosity for a Missense Mutation in SERPINH1, which Encodes the Collagen Chaperone Protein HSP47, Results in Severe Recessive Osteogenesis Imperfecta

Mechanical and mineral properties of osteogenesis imperfecta human bones at the tissue level

Alendronate for the Treatment of Pediatric Osteogenesis Imperfecta: A Randomized Placebo-Controlled Study

Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding

Osteogenesis Imperfecta Type VI: A Form of Brittle Bone Disease with a Mineralization Defect

Therapeutic impact of low amplitude high frequency whole body vibrations on the osteogenesis imperfecta mouse bone

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta

Comparison of bone tissue properties in mouse models with collagenous and non-collagenous genetic mutations using FTIRI

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

High- and low-dose OPG–Fc cause osteopetrosis-like changes in infant mice

Cyclic Administration of Pamidronate in Children with Severe Osteogenesis Imperfecta

Serum 24,25-Dihydroxyvitamin D Concentrations in Osteogenesis Imperfecta: Relationship to Bone Parameters

Bone Mass, Size, and Density in Children and Adolescents With Osteogenesis Imperfecta: Effect of Intravenous Pamidronate Therapy

Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix

Long-bone changes after pamidronate discontinuation in children and adolescents with osteogenesis imperfecta

Immature Osteoblast Lineage Cells Increase Osteoclastogenesis in Osteogenesis Imperfecta Murine

Pregnancy- and lactation-associated transient osteoporosis of both hips in a 32 year old patient with osteogenesis imperfecta

Severe osteogenesis imperfecta caused by a small in‐frame deletion in CRTAP

Intravenous Neridronate in Adults With Osteogenesis Imperfecta

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes

Positive Linear Growth and Bone Responses to Growth Hormone Treatment in Children With Types III and IV Osteogenesis Imperfecta: High Predictive Value of the Carboxyterminal Propeptide of Type I Procollagen

Bone turnover and type I collagen C-telopeptide isomerization in adult osteogenesis imperfecta: Associations with collagen gene mutations

Myocardial Mechanics and Collagen Structure in the Osteogenesis Imperfecta Murine (oim)

Rnai of COL1A1 in mesenchymal progenitor cells

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