(Q42630989)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24293101%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24293101%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

main subject

osteogenesis imperfecta

0 references

author name string

Heike Hoyer-Kuhn

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24293101%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Lutz Garbes

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24293101%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Katharina Zimmermann

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24293101%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Jutta Becker

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24293101%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Eckhard Schoenau

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24293101%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

Christian Netzer

8

1 reference

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2 March 2020

publication date

1 June 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24293101%20AND%20SRC:MED&resulttype=core&format=json

Journal of Bone and Mineral Research

2 March 2020

published in

1 reference

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2 March 2020

volume

29

1 reference

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2 March 2020

issue

6

1 reference

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2 March 2020

page(s)

1387-1391

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24293101%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

cites work

Osteogenesis imperfecta

1 reference

Genetic heterogeneity in osteogenesis imperfecta

21 January 2018

1 reference

New perspectives on osteogenesis imperfecta

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.

21 January 2018

1 reference

Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.

21 January 2018

1 reference

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.-14C>T mutation in all patients.

21 January 2018

1 reference

Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation

21 January 2018

1 reference

Genotype-phenotype study in type V osteogenesis imperfecta.

21 January 2018

1 reference

Regulation of the bone-restricted IFITM-like (Bril) gene transcription by Sp and Gli family members and CpG methylation

21 January 2018

1 reference

Characterization of the osteoblast-specific transmembrane protein IFITM5 and analysis of IFITM5-deficient mice

21 January 2018

1 reference

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

21 January 2018

1 reference

Early bisphosphonate treatment in infants with severe osteogenesis imperfecta

21 January 2018

1 reference

De novo mutations in human genetic disease

21 January 2018

1 reference

Bril: a novel bone-specific modulator of mineralization

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/JBMR.2156

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24293101%20AND%20SRC:MED&resulttype=core&format=json

2 March 2020

1 reference