(Q59409624)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

title

Osteogenesis imperfecta (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

main subject

osteogenesis imperfecta

0 references

author

Nadja Fratzl-Zelman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

author name string

Antonella Forlino

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Hans Peter Bächinger

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Anne De Paepe

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Francois Fassier

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Deborah Krakow

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Kathleen Montpetit

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Oliver Semler

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Joan C Marini

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Nick J Bishop

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Peter H Byers

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Kenneth M Kozloff

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

publication date

18 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

Nature Reviews Disease Primers

27 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

volume

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28820180%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

page(s)

17052

1 reference

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https://scigraph.springernature.com/pub.10.1038/nrdp.2017.52

27 March 2020

exact match

0 references

cites work

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.

1 reference

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Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia

31 March 2020

1 reference

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31 March 2020

Osteogenesis imperfecta

1 reference

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Analysis of skeletal dysplasias in the Utah population

31 March 2020

1 reference

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Mortality and Causes of Death in Patients With Osteogenesis Imperfecta: A Register-Based Nationwide Cohort Study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

A founder mutation in LEPRE1 carried by 1.5% of West Africans and 0.4% of African Americans causes lethal recessive osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Experience of a skeletal dysplasia registry in Turkey: a five-years retrospective analysis.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

A molecular ensemble in the rER for procollagen maturation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Collagens, modifying enzymes and their mutations in humans, flies and worms

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Prolyl 3-hydroxylase 1, enzyme characterization and identification of a novel family of enzymes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Location of 3-hydroxyproline residues in collagen types I, II, III, and V/XI implies a role in fibril supramolecular assembly

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

New perspectives on osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Peptidyl 3-hydroxyproline binding properties of type I collagen suggest a function in fibril supramolecular assembly

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Chicken FK506-binding protein, FKBP65, a member of the FKBP family of peptidylprolyl cis-trans isomerases, is only partially inhibited by FK506.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

pH-dependent function, purification, and intracellular location of a major collagen-binding glycoprotein

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Intracellular interaction of collagen-specific stress protein HSP47 with newly synthesized procollagen

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Structure-function studies on hsp47: pH-dependent inhibition of collagen fibril formation in vitro

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Autophagic elimination of misfolded procollagen aggregates in the endoplasmic reticulum as a means of cell protection

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtlIV, a murine model for osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Differential response to intracellular stress in the skin from osteogenesis imperfecta Brtl mice with lethal and non lethal phenotype: A proteomic approach

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Molecular and structural mapping of collagen fibril interactions

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Procollagen trafficking, processing and fibrillogenesis.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

The NH2-terminal propeptide of type I procollagen acts intracellularly to modulate cell function

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Bone morphogenetic protein-1: the type I procollagen C-proteinase

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

The C-proteinase that processes procollagens to fibrillar collagens is identical to the protein previously identified as bone morphogenic protein-1

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Use of Bmp1/Tll1 doubly homozygous null mice and proteomics to identify and validate in vivo substrates of bone morphogenetic protein 1/tolloid-like metalloproteinases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Bone morphogenetic protein-1 processes the NH2-terminal propeptide, and a furin-like proprotein convertase processes the COOH-terminal propeptide of pro-alpha1(V) collagen

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Multiple bone morphogenetic protein 1-related mammalian metalloproteinases process pro-lysyl oxidase at the correct physiological site and control lysyl oxidase activation in mouse embryo fibroblast cultures

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Bone morphogenetic protein-1 processes probiglycan

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

BMP-1/tolloid-like proteinases synchronize matrix assembly with growth factor activation to promote morphogenesis and tissue remodeling

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

PPIB mutations cause severe osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Prolyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complex

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Mutations in patients with osteogenesis imperfecta from consanguineous Indian families.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

The rough endoplasmic reticulum-resident FK506-binding protein FKBP65 is a molecular chaperone that interacts with collagens.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

HSP47 as a collagen-specific molecular chaperone: function and expression in normal mouse development

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Embryonic lethality of molecular chaperone hsp47 knockout mice is associated with defects in collagen biosynthesis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Type I collagen in Hsp47-null cells is aggregated in endoplasmic reticulum and deficient in N-propeptide processing and fibrillogenesis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

A novel homozygous 5 bp deletion in FKBP10 causes clinically Bruck syndrome in an Indonesian patient.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Novel mutations in FKBP10 and PLOD2 cause rare Bruck syndrome in Chinese patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

A novel splicing mutation in FKBP10 causing osteogenesis imperfecta with a possible mineralization defect

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrum.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Mutations in SERPINF1 cause osteogenesis imperfecta type VI

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

PEDF regulates osteoclasts via osteoprotegerin and RANKL

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

A nonclassical IFITM5 mutation located in the coding region causes severe osteogenesis imperfecta with prenatal onset.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Absence of the ER Cation Channel TMEM38B/TRIC-B Disrupts Intracellular Calcium Homeostasis and Dysregulates Collagen Synthesis in Recessive Osteogenesis Imperfecta.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Essential role of the TRIC-B channel in Ca2+ handling of alveolar epithelial cells and in perinatal lung maturation.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

TRIC channels are essential for Ca2+ handling in intracellular stores.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

The versatility and universality of calcium signalling

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Mutations in WNT1 cause different forms of bone fragility

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Skeletal characteristics associated with homozygous and heterozygous WNT1 mutations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

WNT signaling in bone homeostasis and disease: from human mutations to treatments

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

LRP receptor family member associated bone disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Swaying is a mutant allele of the proto-oncogene Wnt-1

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Static and dynamic bone histomorphometry in children with osteogenesis imperfecta.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Non-Lethal Type VIII Osteogenesis Imperfecta Has Elevated Bone Matrix Mineralization

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

The mineralization density of iliac crest bone from children with osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Pamidronate does not adversely affect bone intrinsic material properties in children with osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Unique micro- and nano-scale mineralization pattern of human osteogenesis imperfecta type VI bone

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Differential effects of alendronate treatment on bone from growing osteogenesis imperfecta and wild-type mouse

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Ultra-structural defects cause low bone matrix stiffness despite high mineralization in osteogenesis imperfecta mice.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Mineral particle size in children with osteogenesis imperfecta type I is not increased independently of specific collagen mutations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Evidence for a Role for Nanoporosity and Pyridinoline Content in Human Mild Osteogenesis Imperfecta.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Impaired pyridinoline cross-link formation in patients with osteogenesis imperfecta.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

How tough is brittle bone? Investigating osteogenesis imperfecta in mouse bone

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Fragility of Bone Material Controlled by Internal Interfaces

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Bone mineralization in an osteogenesis imperfecta mouse model studied by small-angle x-ray scattering

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Normative data for iliac bone histomorphometry in growing children.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

The Material Basis for Reduced Mechanical Properties in oim Mice Bones

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Collagen from the osteogenesis imperfecta mouse model (oim) shows reduced resistance against tensile stress

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Structure-mechanics relationships of collagen fibrils in the osteogenesis imperfecta mouse model.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

An investigation of the mineral in ductile and brittle cortical mouse bone

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Bone Material Properties in Osteogenesis Imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Genetic heterogeneity in osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Nosology and classification of genetic skeletal disorders: 2015 revision.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

New genes in bone development: what's new in osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

31 March 2020

Osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Muscle strength, joint range of motion, and gait in children and adolescents with osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Ankle strength and functional limitations in children and adolescents with type I osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Musculoskeletal functional outcomes in children with osteogenesis imperfecta: associations with disease severity and pamidronate therapy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Multidisciplinary Treatment of Severe Osteogenesis Imperfecta: Functional Outcomes at Skeletal Maturity

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Rapid Increase in Grip Force After Start of Pamidronate Therapy in Children and Adolescents With Severe Osteogenesis Imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Physical training in children with osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Osteogenesis imperfecta: diagnosis and treatment.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Effect of intravenous pamidronate therapy on functional abilities and level of ambulation in children with osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Update on the evaluation and treatment of osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Results of a prospective pilot trial on mobility after whole body vibration in children and adolescents with osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

The choice of intramedullary devices for the femur and the tibia in osteogenesis imperfecta.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Femoral non-elongating rodding in osteogenesis imperfecta - the importance of purchasing epiphyseal plate

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Functional Outcome of Humeral Rodding in Children With Osteogenesis Imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Functional Outcome of Forearm Rodding in Children With Osteogenesis Imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Fassier-Duval femoral rodding in children with osteogenesis imperfecta receiving bisphosphonates: functional outcomes at one year

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Pamidronate in children and adolescents with osteogenesis imperfecta: effect of treatment discontinuation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

A randomized, controlled dose-ranging study of risedronate in children with moderate and severe osteogenesis imperfecta.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Skeletal effects and functional outcome with olpadronate in children with osteogenesis imperfecta: a 2-year randomised placebo-controlled study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Evaluation of teriparatide treatment in adults with osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Bisphosphonates for the Prevention of Fractures in Osteogenesis Imperfecta: Meta-Analysis of Placebo-Controlled Trials

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Efficacy and Safety of Bisphosphonate Therapy in Children with Osteogenesis Imperfecta: A Systematic Review.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Alendronate treatment of the brtl osteogenesis imperfecta mouse improves femoral geometry and load response before fracture but decreases predicted material properties and has detrimental effects on osteoblasts and bone formation

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Controlled trial of pamidronate in children with types III and IV osteogenesis imperfecta confirms vertebral gains but not short-term functional improvement

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Osteogenesis imperfecta:epidemiology and pathophysiology

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Causes of death in osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Spinal deformity, pulmonary compromise, and quality of life in osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Atrioventricular valve development: new perspectives on an old theme.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Aortic dissection in osteogenesis imperfecta: case report and review of the literature.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

[Cardiac abnormalities in osteogenesis imperfecta. Case-control echocardiographic study]

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Valvular heart disease in patients with osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Cardiovascular abnormalities in adults with osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Impairment of diastolic function in adult patients affected by osteogenesis imperfecta clinically asymptomatic for cardiac disease: Casuality or causality?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Suspected collagen disorders in the bleeding disorder clinic: a case-control study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Neurosurgical implications of osteogenesis imperfecta in children. Report of 4 cases.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Osteogenesis imperfecta and aortic dissection

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Audiologic phenotype of osteogenesis imperfecta: use in clinical differentiation.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Transition to adult care for children with chronic neurological disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Prevalence and correlates of successful transfer from pediatric to adult health care among a cohort of young adults with complex congenital heart defects

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Implementing family health history risk stratification in primary care: impact of guideline criteria on populations and resource demand

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Orthopaedic Considerations for the Adult With Osteogenesis Imperfecta.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Osteogenesis imperfecta in adults

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Predictors and correlates of vitamin D status in children and adolescents with osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Functioning and quality of life in adults with mild-to-moderate osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Treatment of osteogenesis imperfecta in adults

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Oral findings in adults with osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Clinical Presentation and Alternative Diagnoses in the Adult Population

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Osteogenesis imperfecta in childhood: cardiac and renal manifestations

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

The World Health Organization quality of life assessment (WHOQOL): Position paper from the World Health Organization

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Quality of life in osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Quality of life in osteogenesis imperfecta: A mixed-methods systematic review

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

The impact of severe osteogenesis imperfecta on the lives of young patients and their parents - a qualitative analysis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Quality of life in children with osteogenesis imperfecta treated with oral bisphosphonates (Olpadronate): a 2-year randomized placebo-controlled trial.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Effect of intravenous pamidronate therapy on everyday activities in children with osteogenesis imperfecta.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Impact of alendronate on quality of life in children with osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Quality of life in caregivers of children and adolescents with Osteogenesis Imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Quality of life in children and adolescents with Osteogenesis Imperfecta: a qualitative interview based study

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Psychosocial aspects of osteogenesis imperfecta: an update

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Heart disease in patients with osteogenesis imperfecta - A systematic review

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Prevalence of Cardiovascular Disease and Cardiac Symptoms: Left and Right Ventricular Function in Adults With Osteogenesis Imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Transcatheter mitral valve repair in osteogenesis imperfecta associated mitral valve regurgitation.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Increased cell surface expression of receptors for transforming growth factor-beta on osteoblasts from patients with Osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Romosozumab Treatment in Postmenopausal Women with Osteoporosis

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Sclerostin antibody improves skeletal parameters in a Brtl/+ mouse model of osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Rapidly growing Brtl/+ mouse model of osteogenesis imperfecta improves bone mass and strength with sclerostin antibody treatment

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Targeting the LRP5 pathway improves bone properties in a mouse model of osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Effect of sclerostin antibody treatment in a mouse model of severe osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Single dose of bisphosphonate preserves gains in bone mass following cessation of sclerostin antibody in Brtl/+ osteogenesis imperfecta model

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Treatment options for osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Potential of human fetal chorionic stem cells for the treatment of osteogenesis imperfecta

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

New frontiers for dominant osteogenesis imperfecta treatment: gene/cellular therapy approaches

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52

Orthotic management for children with osteogenesis imperfecta.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRDP.2017.52