Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation (Q34299900)

1 August 2017

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title

Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation (English)

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fibrodysplasia ossificans progressiva

1 August 2017

main subject

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author

Gabriele Gillessen-Kaesbach

series ordinal

2

object named as

Gabriele Gillessen-Kaesbach

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Irina Hüning

series ordinal

1

object named as

Irina Hüning

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publication date

7 August 2014

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1 August 2017

published in

Molecular syndromology

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1 August 2017

volume

5

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1 August 2017

issue

5

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1 August 2017

page(s)

201-211

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The phenotype and genotype of fibrodysplasia ossificans progressiva in China: a report of 72 cases

1 August 2017

cites work

1 reference

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Sporadic Fibrodysplasia Ossificans Progressiva in an Egyptian Infant with c.617G > A Mutation in ACVR1 Gene: A Case Report and Review of Literature

6 July 2018

1 reference

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Fibrodysplasia ossificans progressiva: clinical and genetic aspects

6 July 2018

1 reference

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A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date

6 July 2018

1 reference

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The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization

6 July 2018

1 reference

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Novel mutations in ACVR1 result in atypical features in two fibrodysplasia ossificans progressiva patients

6 July 2018

1 reference

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Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188166

Mutational analysis of the ACVR1 gene in Italian patients affected with fibrodysplasia ossificans progressiva: confirmations and advancements.

6 July 2018

1 reference

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Proximal tibial osteochondromas in patients with fibrodysplasia ossificans progressiva

6 July 2018

1 reference

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Morphogen receptor genes and metamorphogenes: skeleton keys to metamorphosis

6 July 2018

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Bone morphogenetic protein signaling in stem cells--one signal, many consequences

6 July 2018

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Bone morphogenetic proteins and their antagonists

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188166

A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva

6 July 2018

1 reference

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Smad transcription factors

6 July 2018

1 reference

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Bone morphogenetic proteins

6 July 2018

1 reference

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Heritable disorders of connective tissue. VIII. Concluding comments. Introduction; fibrodysplasia ossificans progressiva; osteopoikilosis; Leri's pleonosteosis; Paget's disease of bone; other possible hereditary and generalized disorders of conne

6 July 2018

1 reference

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Mechanisms of TGF-beta signaling from cell membrane to the nucleus

6 July 2018

1 reference

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Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188166

Bone: formation by autoinduction

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188166

Novel regulators of bone formation: molecular clones and activities

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188166

Myositis ossificans progressiva. Clinical features of eight patients and their response to treatment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188166

ACVR1 (587T>C) mutation in a variant form of fibrodysplasia ossificans progressiva: second report.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188166

Fibrodysplasia ossificans progressiva in Spain: epidemiological, clinical, and genetic aspects.

28 October 2018

1 reference

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Mutational screening of ACVR1 gene in Brazilian fibrodysplasia ossificans progressiva patients

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188166

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188166

Conductive hearing loss in individuals with fibrodysplasia ossificans progressiva

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188166

A case of extraordinary exostoses on the back of a boy. 1740. John Freke (1688-1756).

28 October 2018

1 reference

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Radiographic and scintigraphic features of modeling and remodeling in the heterotopic skeleton of patients who have fibrodysplasia ossificans progressiva.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188166

Fibrodysplasia ossificans progressiva. The clinical features and natural history of 34 patients.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4188166

The face signature of fibrodysplasia ossificans progressiva

28 October 2018

1 reference

12 December 2020

A unique case of fibrodysplasia ossificans progressiva with an ACVR1 mutation, G356D, other than the common mutation (R206H)

1 reference

12 December 2020

The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva

1 reference

12 December 2020

Functional modeling of the ACVR1 (R206H) mutation in FOP

1 reference

12 December 2020

The natural history of heterotopic ossification in patients who have fibrodysplasia ossificans progressiva. A study of forty-four patients

1 reference

12 December 2020

Developmental anomalies of the cervical spine in patients with fibrodysplasia ossificans progressiva are distinctly different from those in patients with Klippel-Feil syndrome: clues from the BMP signaling pathway

1 reference

12 December 2020

Identifiers

DOI

10.1159/000365770

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1 August 2017

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1 August 2017

1 reference