(Q35704034)

9 August 2017

Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype (English)

1 reference

9 August 2017

osteogenesis imperfecta

0 references

1 reference

5

Fransiska Malfait

0 references

Cor W. R. J. Cremers

11

object named as

Cor W R J Cremers

1 reference

9 August 2017

12

Ingeborg J M Dhooge

1 reference

9 August 2017

Freya K R Swinnen

1

1 reference

9 August 2017

Paul J Coucke

2

1 reference

9 August 2017

Anne M De Paepe

3

1 reference

9 August 2017

Sofie Symoens

4

1 reference

9 August 2017

Filomena V Gentile

6

1 reference

9 August 2017

Luca Sangiorgi

7

1 reference

9 August 2017

Patrizia D'Eufemia

8

1 reference

9 August 2017

Mauro Celli

9

1 reference

9 August 2017

Ton J T M Garretsen

10

1 reference

9 August 2017

Els M R De Leenheer

13

1 reference

9 August 2017

29 December 2011

1 reference

Orphanet Journal of Rare Diseases

9 August 2017

1 reference

9 August 2017

6

1 reference

9 August 2017

88

1 reference

https://scigraph.springernature.com/pub.10.1186/1750-1172-6-88

9 August 2017

0 references

cites work

Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

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.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

How common is hearing impairment in osteogenesis imperfecta?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

Hearing loss (in nonoperated ears) in relation to age in osteogenesis imperfecta type I.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

Hearing and middle ear function in osteogenesis imperfecta.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

Histopathology of the temporal bone in osteogenesis imperfecta congenita: a report of 5 cases.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

A clinical and audiological investigation of osteogenesis imperfecta.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

Clinical and genetic aspects in autosomal dominant inherited osteogenesis imperfecta type I.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

Osteogenesis imperfecta: translation of mutation to phenotype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

An audiological investigation of osteogenesis imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

Genetic heterogeneity in osteogenesis imperfecta

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

Osteogenesis Imperfecta: A Study of 160 Family Members

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

Audiological findings in osteogenesis imperfecta.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

Is it necessary to screen for hearing loss in the paediatric population with osteogenesis imperfecta?

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

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

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

Hearing patterns in dominant osteogenesis imperfecta.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

Osteogenesis imperfecta and associated hearing loss in five kindreds.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

Osteogenesis imperfecta in twenty-three members of a kindred with heritable features contributed by a non-specific skeletal disorder

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3267664

The ear in osteogenesis imperfecta

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22206639

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-6-88

1 reference

Dimensions Publication ID

9 August 2017

0 references

1 reference

9 August 2017

1 reference