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

No abstract is available for this paper.

• Publication year

  2002

• Venue

  Bone

• Publication date

  2002-07-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/S8756-3282(02)00808-6PMID 12110407
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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

  2002cited by this paper
• Osteogenesis Imperfecta Type VI: A Form of Brittle Bone Disease with a Mineralization Defect

  2002cited by this paper
• The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

  2000cited by this paper
• Type V Osteogenesis Imperfecta: A New Form of Brittle Bone Disease

  2000cited by this paper
• Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: comparison with denaturing gradient gel electrophoresis and nucleotide sequencing.

  1998cited by this paper
• de la Chapelle, A.

  1997cited by this paper
• Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes

  1997cited by this paper
• Bone morphogenetic proteins in development.

  1996cited by this paper
• Linkage disequilibrium analysis in young populations: pseudo-vitamin D-deficiency rickets and the founder effect in French Canadians.

  1996cited by this paper
• Increased expression of TGF-beta 2 in osteoblasts results in an osteoporosis-like phenotype

  1996cited by this paper
• COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II.

  1995cited by this paper
• A powerful likelihood method for the analysis of linkage disequilibrium between trait loci and one or more polymorphic marker loci.

  1995cited by this paper
• Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis

  1994cited by this paper
• Transforming growth factor receptor gene TGFBR2 maps to human chromosome band 3p22.

  1994cited by this paper
• Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism.

  1994cited by this paper
• Chromosomal localization of the parathyroid hormone/parathyroid hormone-related protein receptor gene to human chromosome 3p21.1-p24.2.

  1994cited by this paper
• 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.

  1993influential reference
• Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.

  1993cited by this paper
• A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta

  1993cited by this paper
• Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

  1992cited by this paper
• Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV.

  1991cited by this paper
• PCR detection of five restriction site dimorphisms at the type I collagen loci COL1A1 and COL1A2.

  1991cited by this paper
• Metabolic Bone Disease and Clinically Related Disorders

  1990cited by this paper
• Osteogenesis Imperfecta Type IV

  1990cited by this paper
• Phenotypical features of an unique Irish family with severe autosomal recessive Osteogenesis imperfecta

  1989cited by this paper
• Phenotypical features of an unique Irish family with severe autosomal recessive Osteogenesis imperfecta

  1989cited by this paper
• Homozygous osteogenesis imperfecta unlinked to collagen I genes

  1988cited by this paper
• Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

  1988cited by this paper
• Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain.

  1988cited by this paper
• Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II

  1985cited by this paper
• Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta.

  1984cited by this paper
• Congenital osteogenesis imperfecta in three sibs

  1981cited by this paper
• Osteogenesis Imperfecta.

  year unknowncited by this paper

• Efficacy and safety of intravenous Zolidronic acid in the treatment of pediatric osteogenesis imperfecta: a systematic review

  2023cites this paper
• Osteogenesis imperfecta and other defects of bone development as occasional causes of adult osteoporosis

  2021cites this paper
• Chapter 23 – Osteogenesis Imperfecta

  2018cites this paper
• Functional Outcome of Forearm Rodding in Children With Osteogenesis Imperfecta

  2018cites this paper
• Modeling Rare Bone Diseases in Animals

  2018cites this paper
• Functional Outcome of Humeral Rodding in Children With Osteogenesis Imperfecta

  2018cites this paper
• Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice

  2016cites this paper
• Injectable High Viscosity Liquid Carriers for Bone Tissue Engineering

  2016cites this paper
• Mechanical and mineral properties of osteogenesis imperfecta human bones at the tissue level.

  2014cites this paper
• Recessive Osteogenesis Imperfecta Due to Mutations in CRTAP, LEPRE1 and PPIB

  2014cites this paper
• Recessive Osteogenesis Imperfecta: Prevalence and Pathophysiology of Collagen Prolyl-3-Hydroxylation Complex Defects

  2014cites this paper
• Use of minimally invasive (percutaneous) Fassier-Duval telescopic rod on an 8 year old patient with Lobstein disease.

  2013cites this paper
• Osteoporosis in Childhood and Adolescence

  2013cites this paper
• Safety and efficacy of a 1-year treatment with zoledronic acid compared with pamidronate in children with osteogenesis imperfecta

  2012cites this paper
• A type IV osteogenesis imperfecta family and pregnancy: a case report and literature review.

  2012cites this paper
• Bisphosphonates: effects on osteoblast

  2012cites this paper
• A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect.

  2012cites this paper
• Osteogenesis imperfecta

  2012cites this paper
• [Osteogenesis imperfecta: clinical and genetic heterogeneity].

  2012cites this paper
• Recessively inherited forms of osteogenesis imperfecta.

  2012cites this paper
• Reshaping of Vertebrae during Treatment with Neridronate or Pamidronate in Children with Osteogenesis Imperfecta

  2011cites this paper
• Chapter 18, The Spectrum of Pediatric Osteoporosis

  2011cites this paper
• Fassier–Duval femoral rodding in children with osteogenesis imperfecta receiving bisphosphonates: functional outcomes at one year

  2011cites this paper
• New perspectives on osteogenesis imperfecta

  2011cites this paper
• Role of Cartilage-Associated Protein in Skeletal Development

  2010cites this paper
• Prenatal Diagnosis and Management of Intrauterine Fracture

  2010cites this paper
• Prenatal Diagnosis of Disorders of Bone and Connective Tissue

  2010cites this paper
• Characterising and treating osteogenesis imperfecta.

  2010cites this paper
• Classification of Osteogenesis Imperfecta revisited.

  2010cites this paper
• Osteogenesis imperfecta: questions and answers

  2009cites this paper
• Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

  2009influential citation
• A new osteogenesis imperfecta with improvement over time maps to 11q

  2008cites this paper
• Osteogenesis imperfecta.

  2008cites this paper
• Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

  2007cites this paper
• Hereditary Dentin Defects

  2007cites this paper
• Osteogenesis imperfecta: Epidemiology and pathophysiology

  2007influential citation
• [Osteogenesis imperfecta and dentinogenesis imperfecta: diagnostic frontiers and importance in dentofacial orthopedics].

  2007cites this paper
• Prolyl hydroxylases : cloning and characterization of novel human and plant prolyl 4-hydroxylases, and three human prolyl 3-hydroxylases

  2007cites this paper
• Ostéogenèse imparfaite et dentinogenèse imparfaite : frontières diagnostiques et intérêt en orthopédie dento-faciale

  2007cites this paper
• Metabolic bone diseases: Disorders of calcium and phosphate metabolism

  2007cites this paper
• CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta.

  2006cites this paper
• Metabolic Bone Disease in Children

  2006cites this paper
• Genetic evaluation of suspected osteogenesis imperfecta (OI)

  2006cites this paper
• Single gene mutations and variations affecting bone turnover and strength: a selective 2006 update

  2006cites this paper
• Osteogenesis Imperfecta

  2006cites this paper
• CHAPTER 50 – Osteogenesis Imperfecta

  2006cites this paper
• Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta

  2006cites this paper
• Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

  2006cites this paper
• Osteoporosis in Children and Adolescents

  2005cites this paper
• Interaction between osteoblast and osteoclast: impact in bone disease.

  2004cites this paper
• Osteogenesis Imperfecta

  2004cites this paper
• Syndromes with congenital brittle bones

  2004cites this paper
• Begleiterkrankungen bei primärer Gelenkhypermobilität

  2004cites this paper
• Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

  2004cites this paper
• The role of pamidronate in pediatric patients with severe osteogenesis imperfecta.

  2004cites this paper
• Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

  2004influential citation
• Phenotypic and Molecular Characterization of Bruck Syndrome ( Osteogenesis Imperfecta With Contractures of the Large Joints ) Caused by a Recessive Mutation in PLOD 2

  2004influential citation
• Functional characterisation of an osteoclast-derived osteoblastic factor (ODOF)

  2004cites this paper
• [Concomitant diseases in primary joint hypermobility syndrome].

  2004cites this paper
• Brittle IV Mouse Model for Osteogenesis Imperfecta IV Demonstrates Postpubertal Adaptations to Improve Whole Bone Strength

  2004cites this paper
• Osteogenesis imperfecta.

  2004cites this paper
• CHAPTER 17 – The Spectrum of Pediatric Osteoporosis

  2003cites this paper
• CHAPTER 15 – Bone Histomorphometry

  2003cites this paper
• Hyperplastic callus formation in osteogenesis imperfecta.

  2003cites this paper
• CHAPTER 18 – Osteogenesis Imperfecta

  2003cites this paper
• Osteogenesis imperfecta--clinical and molecular diversity.

  2003cites this paper
• Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease.

  2002cites this paper
• CHAPTER 43 – Osteoporosis in Childhood and Adolescence

  2001cites this paper