Osteogenesis Imperfecta: A Review with Clinical Examples. (Q35932671)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22570641 AND SRC:MED&resulttype=core&format=json

31 January 2020

title

Osteogenesis Imperfecta: A Review with Clinical Examples (English)

1 reference

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31 January 2020

main subject

osteogenesis imperfecta

0 references

author

Ariana Kariminejad

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22570641 AND SRC:MED&resulttype=core&format=json

31 January 2020

Rick Robert van Rijn

6

1 reference

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31 January 2020

author name string

F S van Dijk

1

1 reference

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31 January 2020

J M Cobben

2

1 reference

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31 January 2020

A Maugeri

4

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31 January 2020

P G J Nikkels

5

1 reference

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31 January 2020

G Pals

7

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31 January 2020

publication date

12 October 2011

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31 January 2020

published in

Molecular syndromology

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31 January 2020

volume

2

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31 January 2020

issue

1

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31 January 2020

page(s)

1-20

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EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

31 January 2020

cites work

1 reference

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Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta

2 October 2017

1 reference

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Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.

2 October 2017

1 reference

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Current and emerging treatments for the management of osteogenesis imperfecta.

2 October 2017

1 reference

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Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

2 October 2017

1 reference

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Multiple functions of Osterix are required for bone growth and homeostasis in postnatal mice

2 October 2017

1 reference

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Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.

2 October 2017

1 reference

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Prenatal diagnosis and management of intrauterine fracture

2 October 2017

1 reference

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Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta

2 October 2017

1 reference

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Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta

2 October 2017

1 reference

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Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding

2 October 2017

1 reference

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Classification of Osteogenesis Imperfecta revisited

2 October 2017

1 reference

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Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

2 October 2017

1 reference

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Mesenchymal stem cells for bone repair and metabolic bone diseases.

2 October 2017

1 reference

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PPIB mutations cause severe osteogenesis imperfecta

2 October 2017

1 reference

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Missense mutations that cause Bruck syndrome affect enzymatic activity, folding, and oligomerization of lysyl hydroxylase 2

2 October 2017

1 reference

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A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta

2 October 2017

1 reference

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CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

2 October 2017

1 reference

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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

2 October 2017

1 reference

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Osteogenesis imperfecta in a 3,000-year-old mummy

2 October 2017

1 reference

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Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia

2 October 2017

1 reference

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CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

2 October 2017

1 reference

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Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

2 October 2017

1 reference

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CRTAP is required for prolyl 3- hydroxylation and mutations cause recessive osteogenesis imperfecta

2 October 2017

1 reference

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Procollagen trafficking, processing and fibrillogenesis.

2 October 2017

1 reference

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Endocrine aspects of growth deficiency in OI.

2 October 2017

1 reference

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2 October 2017

Osteogenesis imperfecta

1 reference

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Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis

2 October 2017

1 reference

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Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: Implications for cell therapy of bone

2 October 2017

1 reference

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Testing for osteogenesis imperfecta in cases of suspected non-accidental injury

2 October 2017

1 reference

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Aspects of the history of osteogenesis imperfecta (Vrolik's syndrome).

2 October 2017

1 reference

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Type V osteogenesis imperfecta: a new form of brittle bone disease

2 October 2017

1 reference

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Transplantability and therapeutic effects of bone marrow-derived mesenchymal cells in children with osteogenesis imperfecta

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Cyclic administration of pamidronate in children with severe osteogenesis imperfecta

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

The Human Collagen Mutation Database 1998

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Cleavage of collagen RNA transcripts by hammerhead ribozymes in vitro is mutation-specific and shows competitive binding effects

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Non-accidental injury or brittle bones

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

The human type I collagen mutation database

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Antisense oligodeoxynucleotides selectively suppress expression of the mutant alpha 2(I) collagen allele in type IV osteogenesis imperfecta fibroblasts. A molecular approach to therapeutics of dominant negative disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Osteogenesis imperfecta: the molecular basis of clinical heterogeneity

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Transgenic mouse model of the mild dominant form of osteogenesis imperfecta

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Differentiation of child abuse from osteogenesis imperfecta

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Human cyclophilin B: a second cyclophilin gene encodes a peptidyl-prolyl isomerase with a signal sequence

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Consistent linkage of dominantly inherited osteogenesis imperfecta to the type I collagen loci: COL1A1 and COL1A2.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

The zipper-like folding of collagen triple helices and the effects of mutations that disrupt the zipper

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Genetic heterogeneity in osteogenesis imperfecta

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Effects of the bisphosphonate risedronate on osteopenia in OASIS-deficient mice

11 July 2018

1 reference

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Biochemical characterization of the prolyl 3-hydroxylase 1.cartilage-associated protein.cyclophilin B complex.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Bruck syndrome: a rare combination of bone fragility and multiple congenital joint contractures

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

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-a

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Strategies and outcomes of prenatal diagnosis for osteogenesis imperfecta: a review of biochemical and molecular studies completed in 129 pregnancies

11 July 2018

1 reference

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Electron microscopy findings on the cornea and sclera in osteogenesis imperfecta

11 July 2018

1 reference

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Bone collagen aggregation abnormalities in osteogenesis imperfecta

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Decreased scattering coefficient of blue sclerae

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Classification of osteogenesis imperfecta by dental characteristics

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Nosology and classification of genetic skeletal disorders: 2010 revision.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Anesthetic implications for the patient with osteogenesis imperfecta

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Substance P stimulates differentiation of mice osteoblast through up-regulating Osterix expression

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

A standardized tool to measure and describe scleral colour in osteogenesis imperfecta

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

RNAi of COL1A1 in mesenchymal progenitor cells

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Central corneal thickness is lower in osteogenesis imperfecta and negatively correlates with the presence of blue sclera

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Hearing loss in Finnish adults with osteogenesis imperfecta: a nationwide survey

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Osteogenesis imperfecta type VI: a form of brittle bone disease with a mineralization defect

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Clinical responses to bone marrow transplantation in children with severe osteogenesis imperfecta

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Ocular findings in osteogenesis imperfecta congenita

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

The classic: congenital osteomalacia. Olaus Jacob Ekman.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

[Willem Vrolik as a teratologist].

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance

14 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3343766

Heterozygous oim mice exhibit a mild form of osteogenesis imperfecta

14 November 2018

1 reference

12 December 2020

Complete COL1A1 allele deletions in osteogenesis imperfecta

1 reference

12 December 2020

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

1 reference

12 December 2020

Central corneal thickness in osteogenesis imperfecta and otosclerosis

1 reference

12 December 2020

Osteogenesis imperfecta: mode of delivery and neonatal outcome

1 reference

12 December 2020

Osteogenesis imperfecta in childhood: impairment and disability

1 reference

12 December 2020

Altered relation of two collagen types in osteogenesis imperfecta

1 reference

12 December 2020

Dominant mutations in familial lethal and severe osteogenesis imperfecta

1 reference

12 December 2020

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

1 reference

12 December 2020

Specific ultrasonographic features of perinatal lethal hypophosphatasia

1 reference

12 December 2020

Increased nuchal translucency in the first trimester as a sign of osteogenesis imperfecta

1 reference

12 December 2020

Morphometric analysis of type I collagen fibrils in the osteoid of osteogenesis imperfecta

1 reference

12 December 2020

Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings

1 reference

12 December 2020

Identifiers

DOI

10.1159/000332228

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22570641 AND SRC:MED&resulttype=core&format=json

31 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22570641 AND SRC:MED&resulttype=core&format=json

31 January 2020

PubMed publication ID

22570641

1 reference