Osteogenesis imperfecta - Clinical and molecular diversity

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.

1993 • 685 citations

Type V Osteogenesis Imperfecta: A New Form of Brittle Bone Disease

2000 • 503 citations

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

2002 • 428 citations

Targeted and nontargeted remodeling

2002 • 403 citations

Theoretical perspective: A new model for the regulation of bone resorption, with particular reference to the effects of bisphosphonates

1996 • 331 citations

The human type I collagen mutation database

1997 • 307 citations

Bisphosphonates: Mechanisms of Action

1998 • 305 citations

The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta

2002 • 284 citations

Pamidronate Treatment of Severe Osteogenesis Imperfecta in Children under 3 Years of Age*

2000 • 280 citations

Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease

2002 • 266 citations

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

2003 • 191 citations

Methods for detection of point mutations: performance and quality assessment. IFCC Scientific Division, Committee on Molecular Biology Techniques.

1997 • 180 citations

Analysis of the COL1A1 and COL1A2 Genes by PCR Amplification and Scanning by Conformation-Sensitive Gel Electrophoresis Identifies Only COL1A1 Mutations in 15 Patients with Osteogenesis Imperfecta Type I: Identification of Common Sequences of Null-Allele Mutations

1998 • 175 citations

Osteogenesis Imperfecta Types I, III, and IV: Effect of Pamidronate Therapy on Bone and Mineral Metabolism

2003 • 154 citations

Methods for detection of point mutations: performance and quality assessment

1997 • 141 citations

Pamidronate Treatment of Severe Osteogenesis Imperfecta in Children under 3 Years of Age

2000 • 135 citations

Intravenous Neridronate in Adults With Osteogenesis Imperfecta

2003 • 132 citations

Modern approach to children with osteogenesis imperfecta.

2003 • 127 citations

Osteogenesis Imperfecta

1998 • 94 citations

Osteogenesis imperfecta in childhood: Treatment strategies

1998 • 90 citations

Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.

1993 • 69 citations

Osteogenesis imperfecta type VII maps to the short arm of chromosome 3

2002 • 66 citations

Homozygous osteogenesis imperfecta unlinked to collagen I genes

1988 • 66 citations

Bisphosphonates: From Grandparents to Grandchildren

1999 • 65 citations

Osteogenesis Imperfecta: Prospects for Molecular Therapeutics

2000 • 64 citations

Osteogenesis imperfecta: perspectives and opportunities

2000 • 61 citations

Journal of Bone and Mineral Research

1993 • 56 citations

Osteogenesis imperfecta at the beginning of bone and joint decade.

2001 • 55 citations

Detecting single-base mutations

1993 • 49 citations

The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta

2002 • 31 citations

Modern approach to children with osteogenesis imperfecta

2003 • 25 citations

Chemical cleavage method for the detection of RNA base changes: Experience in the application to collagen mutations in osteogenesis imperfecta

1993 • 24 citations

Osteogenesis Imperfecta

2001 • 15 citations

Approaches for Skeletal Gene Therapy

2002 • 7 citations

Approaches for Skeletal Gene Therapy

2002 • 1 citations

A life not so fragile

2001 • 1 citations

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