(Q59286854)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

main subject

osteogenesis imperfecta

0 references

author

Frank Rauch

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

author name string

L M Ward

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

R Travers

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

G Chabot

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

E M Azouz

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

L Lalic

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

P J Roughley

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

F H Glorieux

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

language of work or name

English

0 references

publication date

1 July 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

12-18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

Homozygous osteogenesis imperfecta unlinked to collagen I genes

10 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

Bone resorption rates in children monitored by the urinary assay of collagen type I cross-linked peptides

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

Congenital osteogenesis imperfecta in three sibs

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes.

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

Toward a molecular understanding of skeletal development

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

Normative data for iliac bone histomorphometry in growing children.

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

Birthweight between 14 and 42 weeks' gestation

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

Osteogenesis imperfecta type VII maps to the short arm of chromosome 3

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

The treatment of progressive coxa vara in children with bone softening disorders

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

Effects of ethnicity and age or menopause on osteoblast function, bone mineralization, and osteoid accumulation in iliac bone

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

Static and dynamic bone histomorphometry in children with osteogenesis imperfecta.

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

Standards for limb bone length ratios in children

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

Lumbar bone mineral content measured by dual energy X‐ray absorptiometry in newborns and infants

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

Genetic heterogeneity in osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1016%2FS8756-3282%2802%2900790-1

7 January 2021

10.1016/S8756-3282(02)00790-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12110406%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference