(Q33577954)

English

Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition

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scholarly article

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Europe PubMed Central

PubMed publication ID

28 July 2017

Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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Mélodie Aubart

object named as

Mélodie Aubart

1

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object named as

Nadine Hanna

5

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Laurent Gouya

17

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Philippe Dieudé

object named as

Philippe Dieudé

10

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Catherine Boileau

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Catherine Boileau

20

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Delphine Detaint

4

object named as

Delphine Detaint

1 reference

Europe PubMed Central

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28 July 2017

author name string

Delphine Gobert

2

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Europe PubMed Central

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28 July 2017

Fleur Aubart-Cohen

3

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28 July 2017

Hyacintha d'Indya

6

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Europe PubMed Central

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28 July 2017

Janine-Sophie Lequintrec

7

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Europe PubMed Central

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28 July 2017

Philippe Renard

8

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Europe PubMed Central

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28 July 2017

Anne-Marie Vigneron

9

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Europe PubMed Central

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28 July 2017

Jean-Pierre Laissy

11

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28 July 2017

Pierre Koch

12

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28 July 2017

Christine Muti

13

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Europe PubMed Central

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28 July 2017

Joelle Roume

14

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Europe PubMed Central

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28 July 2017

Veronica Cusin

15

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28 July 2017

Bernard Grandchamp

16

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28 July 2017

Eric LeGuern

18

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28 July 2017

Thomas Papo

19

1 reference

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28 July 2017

Guillaume Jondeau

21

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28 July 2017

language of work or name

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publication date

7 May 2014

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28 July 2017

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28 July 2017

9

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28 July 2017

5

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28 July 2017

e96387

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

copyright license

Creative Commons Attribution 4.0 International

7 May 2014

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April 2022 Public Data File from Crossref

copyright status

0 references

TGFβ receptor mutations impose a strong predisposition for human allergic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012990

21 June 2018

Aneurysm-osteoarthritis syndrome with visceral and iliac artery aneurysms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012990

21 June 2018

Dendritic cell-specific disruption of TGF-β receptor II leads to altered regulatory T cell phenotype and spontaneous multiorgan autoimmunity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012990

21 June 2018

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012990

21 June 2018

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012990

21 June 2018

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012990

21 June 2018

TGF-beta signaling specifies axons during brain development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012990

21 June 2018

The revised Ghent nosology for the Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012990

21 June 2018

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012990

21 June 2018

Transforming growth factor-beta regulation of immune responses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012990

21 June 2018

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012990

21 June 2018

Reconsideration of echocardiographic standards for mitral valve prolapse: lack of association between leaflet displacement isolated to the apical four chamber view and independent echocardiographic evidence of abnormality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012990

21 June 2018

Two-dimensional echocardiographic aortic root dimensions in normal children and adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012990

21 June 2018

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4012990

28 July 2018

Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096387

21 January 2018

Aggressive cardiovascular phenotype of aneurysms-osteoarthritis syndrome caused by pathogenic SMAD3 variants.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096387

21 January 2018

Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096387

21 January 2018

Phenotypic spectrum of the SMAD3-related aneurysms–osteoarthritis syndrome

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0096387

21 January 2018

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/24804794

12 December 2020

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Identifiers

10.1371/JOURNAL.PONE.0096387

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

2014PLoSO...996387A

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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