EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. (Q39701074)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21829228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

title

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta (English)

1 reference

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10 February 2020

main subject

osteogenesis imperfecta

0 references

1 reference

2

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21829228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Raymond Dalgleish

3

1 reference

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10 February 2020

Fransiska Malfait

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21829228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Marianne Rohrbach

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21829228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Erik Sistermans

8

1 reference

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10 February 2020

Gerard Pals

9

1 reference

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10 February 2020

author name string

Fleur S van Dijk

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21829228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Alessandra Maugeri

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21829228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Sofie Symoens

7

1 reference

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10 February 2020

publication date

10 August 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21829228%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

10 February 2020

published in

1 reference

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10 February 2020

volume

20

1 reference

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10 February 2020

issue

1

1 reference

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10 February 2020

page(s)

11-19

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https://scigraph.springernature.com/pub.10.1038/ejhg.2011.141

10 February 2020

exact match

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

Locus Reference Genomic sequences: an improved basis for describing human DNA variants.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

Classification of Osteogenesis Imperfecta revisited

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

PPIB mutations cause severe osteogenesis imperfecta

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

Genetic evaluation of suspected osteogenesis imperfecta (OI).

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

14 September 2017

Osteogenesis imperfecta

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

The Human Collagen Mutation Database 1998.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

The human type I collagen mutation database

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

Differentiation of child abuse from osteogenesis imperfecta

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

Osteogenesis imperfecta: translation of mutation to phenotype

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

Genetic heterogeneity in osteogenesis imperfecta

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

Assessment of procollagen processing defects by fibroblasts cultured in the presence of dextran sulphate

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

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

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

Prenatal diagnosis of osteogenesis imperfecta type I by COL1A1 null-allele testing.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234509

20 August 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.141

Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.141

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.141

Complete COL1A1 allele deletions in osteogenesis imperfecta

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21829228

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21829228

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21829228

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2011.141

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21829228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21829228%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference