(Q33419013)

26 July 2017

title

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

1 reference

26 July 2017

0 references

1 reference

Svend Rand-Hendriksen

object named as

Svend Rand-Hendriksen

1

0 references

Odd Geiran

9

object named as

Odd Geiran

1 reference

26 July 2017

2

Rigmor Lundby

1 reference

26 July 2017

6

Svein Ove Semb

1 reference

26 July 2017

5

Jon Offstad

1 reference

26 July 2017

Lena Tjeldhorn

3

1 reference

26 July 2017

Kai Andersen

4

1 reference

26 July 2017

Hans-Jørgen Smith

7

1 reference

26 July 2017

Benedicte Paus

8

1 reference

26 July 2017

publication date

18 March 2009

1 reference

European Journal of Human Genetics

26 July 2017

published in

1 reference

26 July 2017

volume

17

1 reference

26 July 2017

issue

10

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26 July 2017

page(s)

1222-1230

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Marfan syndrome-diagnosis and management

26 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

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

21 June 2018

1 reference

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Marfan syndrome: clinical diagnosis and management

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

Recent progress in genetics of Marfan syndrome and Marfan-associated disorders

21 June 2018

1 reference

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Left ventricular diastolic dysfunction in children and young adults with Marfan syndrome

21 June 2018

1 reference

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Ectopia lentis phenotypes and the FBN1 gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

Marfan syndrome in the third Millennium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

Pulmonary artery root dilatation in Marfan syndrome: quantitative assessment of an unknown criterion

21 June 2018

1 reference

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A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

Natural history of cardiovascular manifestations in Marfan syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

21 June 2018

1 reference

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A clinical severity grading scale for Marfan syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

Revised diagnostic criteria for the Marfan syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

Ascertainment and severity of Marfan syndrome in a Scottish population

21 June 2018

1 reference

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Marfan syndrome. Long-term survival and complications after aortic aneurysm repair

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

The Marfan syndrome: joint and skin manifestations are prevalent and correlated

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

The eye in the Marfan syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

Pulmonary disease in patients with Marfan syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

Marfan syndrome diagnosed in patients 32 years of age or older

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

Clinical manifestations of the Marfan syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

Marfan syndrome and other systemic disorders with congenital ectopia lentis. A Danish national survey.

21 June 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.30

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.30

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.30

Ageing in Marfan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.30

Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.30

Effect of beta-blockade on ascending aortic dilatation in children with the Marfan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.30

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.30

Phenotypic features and impact of beta blocker or calcium antagonist therapy on aortic lumen size in the Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.30

A critical analysis of minor cardiovascular criteria in the diagnostic evaluation of patients with Marfan syndrome.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

Importance of dural ectasia in phenotypic assessment of Marfan's syndrome

31 October 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

31 October 2018

https://api.crossref.org/works/10.1038%2FEJHG.2009.30

7 January 2021

inferred from DOI database lookup

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=2986651

Comparison of cardiovascular and skeletal features of primary mitral valve prolapse and Marfan syndrome

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986651

Quantitative assessment of dural ectasia as a marker for Marfan syndrome

10 December 2018

1 reference

12 December 2020

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene

1 reference

12 December 2020

Dural ectasia in children with Marfan syndrome: a prospective, multicenter, patient-control study

1 reference

12 December 2020

Spinal and pelvic parameters in Marfan's syndrome and their relevance to surgical planning

1 reference

12 December 2020

Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy

1 reference

12 December 2020

Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome

1 reference

12 December 2020

Is ectopia lentis in some cases a mild phenotypic expression of Marfan syndrome? Need for a long-term follow-up

1 reference

12 December 2020

Revised diagnostic criteria for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.30

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2009.30

1 reference

26 July 2017

1 reference

26 July 2017

1 reference