(Q33768300)

29 July 2017

title

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders (English)

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29 July 2017

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9

Stefan Mundlos

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29 July 2017

14

Harald Jüppner

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29 July 2017

6

Murat Bastepe

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29 July 2017

Robert C Gensure

1

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29 July 2017

Outi Mäkitie

2

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29 July 2017

Catherine Barclay

3

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29 July 2017

Catherine Chan

4

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29 July 2017

Steven R Depalma

5

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29 July 2017

Hilal Abuzahra

7

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29 July 2017

Richard Couper

8

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29 July 2017

David Sillence

10

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29 July 2017

Leena Ala Kokko

11

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29 July 2017

Jonathan G Seidman

12

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29 July 2017

William G Cole

13

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29 July 2017

language of work or name

English

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publication date

1 May 2005

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Journal of Clinical Investigation

29 July 2017

published in

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29 July 2017

volume

115

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29 July 2017

issue

5

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29 July 2017

page(s)

1250-1257

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Infantile cortical hyperostoses

29 July 2017

cites work

1 reference

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Cortical hyperostosis in an infant on prolonged prostaglandin infusion: case report and literature review

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22 June 2018

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Deregulation of the platelet-derived growth factor B-chain gene via fusion with collagen gene COL1A1 in dermatofibrosarcoma protuberans and giant-cell fibroblastoma.

22 June 2018

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Reduced bone density and osteoporosis associated with a polymorphic Sp1 binding site in the collagen type I alpha 1 gene

22 June 2018

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22 June 2018

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Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains

22 June 2018

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Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen

22 June 2018

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Regulation of amyloid protein precursor (APP) binding to collagen and mapping of the binding sites on APP and collagen type I.

22 June 2018

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22 June 2018

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Familial infantile cortical hyperostosis in a large Canadian family

22 June 2018

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The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro alpha 1(I) chain of type I procollagen

22 June 2018

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22 June 2018

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Regulation of procollagen synthesis and processing during ascorbate-induced extracellular matrix accumulation in vitro

22 June 2018

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Recurrent Caffey's cortical hyperostosis and persistent deformity

22 June 2018

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22 June 2018

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Infantile cortical hyperostosis: report of a case responding to treatment with corticotropin.

30 October 2018

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Antenatal onset of cortical hyperostosis (Caffey disease): case report and review.

30 October 2018

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30 October 2018

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30 October 2018

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On some late skeletal changes in chronic infantile cortical hyperostosis

30 October 2018

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12 December 2020

Collagens serve as an extracellular store of bioactive interleukin 2

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12 December 2020

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12 December 2020

Birth-associated femoral fractures: incidence and outcome

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12 December 2020

Lethal prenatal onset infantile cortical hyperostosis (Caffey disease)

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12 December 2020

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12 December 2020

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12 December 2020

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12 December 2020

Caffey's disease revisited. Further evidence for autosomal dominant inheritance with incomplete penetrance

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12 December 2020

Treatment of acute osteomyelitis in childhood

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12 December 2020

Prostaglandin synthetase inhibitor in Caffey disease

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12 December 2020

Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII

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12 December 2020

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12 December 2020

Prostaglandin-induced hyperostosis. A case report

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12 December 2020

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12 December 2020

Osteogenesis imperfecta

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12 December 2020

Characterization of an arginine 789 to cysteine substitution in alpha 1 (II) collagen chains of a patient with spondyloepiphyseal dysplasia

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12 December 2020

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12 December 2020

Cortical hyperostosis: a complication of prolonged prostaglandin infusion in infants awaiting cardiac transplantation

1 reference

12 December 2020

Recurrent substitutions of arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce spondyloepiphyseal dysplasia congenita

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12 December 2020

The familial occurrence of infantile cortical hyperostosis in utero

1 reference

12 December 2020

Infantile cortical hyperostosis: an inquiry into its familial aspects

1 reference

12 December 2020

Familial infantile cortical hyperostosis

1 reference

12 December 2020

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in theCOL1A1 andCOL1A2 genes of type I collagen

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI22760

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29 July 2017

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29 July 2017

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