(Q24599558)

inferred from title

author

Hanne Meijers-Heijboer

13

Hanne Meijers-Heijboer

0 references

Rick Robert van Rijn

Rick R van Rijn

12

0 references

Gerard Pals

Gerard Pals

15

0 references

Yvonne Hilhorst-Hofstee

7

Yvonne Hilhorst-Hofstee

0 references

Ernie M H F Bongers

5

Ernie M H F Bongers

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author name string

Fleur S Van Dijk

1

0 references

Isabel M Nesbitt

2

0 references

Peter G J Nikkels

3

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Ann Dalton

4

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Jiddeke M van de Kamp

6

0 references

Nicolette S Den Hollander

8

0 references

Augusta M A Lachmeijer

9

0 references

Carlo L Marcelis

10

0 references

Gita M B Tan-Sindhunata

11

0 references

Jan M Cobben

European Journal of Human Genetics

14

0 references

language of work or name

English

0 references

publication date

December 2009

0 references

published in

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volume

17

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issue

12

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page(s)

1560-9

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cites work

CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta

1 reference

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

24 March 2017

1 reference

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Osteogenesis imperfecta: translation of mutation to phenotype

24 March 2017

1 reference

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Genetic heterogeneity in osteogenesis imperfecta

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987020

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987020

Components of the collagen prolyl 3-hydroxylation complex are crucial for normal bone development.

24 March 2017

1 reference

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Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta

27 September 2017

1 reference

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Diverse biological functions of extracellular collagen processing enzymes

27 September 2017

1 reference

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Procollagen trafficking, processing and fibrillogenesis.

27 September 2017

1 reference

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27 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=2987020

Aspects of the history of osteogenesis imperfecta (Vrolik's syndrome).

27 September 2017

1 reference

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Disrupted growth plates and progressive deformities in osteogenesis imperfecta as a result of the substitution of glycine 585 by valine in the alpha 2 (I) chain of type I collagen

27 September 2017

1 reference

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

27 September 2017

1 reference

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Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta

27 September 2017

1 reference

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Osteogenesis imperfecta type IIA: evidence for dominant inheritance

27 September 2017

1 reference

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Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen

27 September 2017

1 reference

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Type I procollagen: the gene-protein system that harbors most of the mutations causing osteogenesis imperfecta and probably more common heritable disorders of connective tissue.

27 September 2017

1 reference

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Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

27 September 2017

1 reference

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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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987020

Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.

30 May 2018

1 reference

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Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

21 January 2018

1 reference

Crossref

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Dominant mutations in familial lethal and severe osteogenesis imperfecta

21 January 2018

1 reference

12 December 2020

Mutation analysis of coding sequences for type I procollagen in individuals with low bone density

1 reference

12 December 2020

Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation.

1 reference

12 December 2020

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

1 reference

12 December 2020