(Q42030976)

15 October 2017

Reply to "The question of heterogeneity in Marfan syndrome" (English)

1 reference

15 October 2017

Catherine Boileau

1

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author name string

Claudine Junien

2

1 reference

15 October 2017

Gwenaëlle Collod

3

1 reference

15 October 2017

Guillaume Jondeau

4

1 reference

15 October 2017

Olivier Dubourg

5

1 reference

15 October 2017

Jean-Pierre Bourdarias

6

1 reference

15 October 2017

Catherine Bonaïti-Pellié

7

1 reference

15 October 2017

Jean Frezal

8

1 reference

15 October 2017

Pierre Maroteaux

9

1 reference

15 October 2017

language of work or name

English

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publication date

1 March 1995

1 reference

15 October 2017

1 reference

15 October 2017

9

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15 October 2017

3

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15 October 2017

230-231

1 reference

Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes

15 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152972

Marfan syndrome or Marfan-like connective-tissue disorder

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152972

Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome patients and suggest distinct pathogenetic mechanisms

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152972

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152972

Relation between clinical features of the mitral prolapse syndrome and echocardiographically documented mitral valve prolapse.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152972

Effects of misspecifying genetic parameters in lod score analysis.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152972

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152972

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152972

Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152972

Recommendations regarding quantitation in M-mode echocardiography: results of a survey of echocardiographic measurements

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152972

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152972

A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152972

Echocardiographic measurements in normal subjects from infancy to old age.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152972

International nosology of heritable disorders of connective tissue, Berlin, 1986

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3152972

Interpretation of LOD scores with a set of marker loci

2 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21836810

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG0395-230

1 reference

Dimensions Publication ID

15 October 2017

0 references

1 reference

15 October 2017

PubMed publication ID

21836810

1 reference