(Q33688200)

English

Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

1 reference

Europe PubMed Central

Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

0 references

Marfan syndrome

1 reference

based on heuristic

inferred from title

object named as

G Pals

3

0 references

Yvonne Hilhorst-Hofstee

6

object named as

Y Hilhorst-Hofstee

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

author name string

J J J Aalberts

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

A G Schuurman

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

B J C Hamel

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

G Bosman

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

D Q C M Barge-Schaapveld

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

B J M Mulder

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

M P van den Berg

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

J P van Tintelen

10

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

publication date

1 February 2010

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Netherlands Heart Journal

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

18

1 reference

Europe PubMed Central

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28 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

85-89

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

https://scigraph.springernature.com/pub.10.1007/bf03091743

0 references

Prevalence data on all Ghent features in a cross-sectional study of 87 adults with proven Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828568

21 June 2018

Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828568

21 June 2018

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828568

21 June 2018

The molecular genetics of Marfan syndrome and related disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828568

21 June 2018

TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828568

21 June 2018

Heterozygous TGFBR2 mutations in Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828568

21 June 2018

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828568

21 June 2018

Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828568

21 June 2018

Making sense of latent TGFbeta activation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828568

21 June 2018

Revised diagnostic criteria 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=2828568

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=2828568

28 July 2018

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828568

30 October 2018

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828568

30 October 2018

Utility of molecular analyses in the exploration of extreme intrafamilial variability in the Marfan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828568

30 October 2018

TGFBR1 and TGFBR2 mutations in patients with features of Marfan syndrome and Loeys-Dietz syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828568

30 October 2018

Phenotypic variability of cardiovascular manifestations in Marfan Syndrome. Possible role of hyperhomocysteinemia and C677T MTHFR gene polymorphism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828568

30 October 2018

Life expectancy in British Marfan syndrome populations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2828568

30 October 2018

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

1 reference

https://pubmed.ncbi.nlm.nih.gov/20200614

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan-related phenotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/20200614

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evaluation and application of denaturing HPLC for mutation detection in Marfan syndrome: Identification of 20 novel mutations and two novel polymorphisms in the FBN1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/20200614

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Compound-heterozygous Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20200614

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF03091743

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Dimensions Publication ID

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

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