(Q47228622)

12 January 2018

title

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

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12 January 2018

author

Bart L Loeys

1

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12 January 2018

Gerard Pals

object named as

G Pals

5

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author name string

J De Backer

2

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12 January 2018

P Van Acker

3

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12 January 2018

K Wettinck

4

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12 January 2018

L Nuytinck

6

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12 January 2018

P Coucke

7

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12 January 2018

A De Paepe

8

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12 January 2018

publication date

1 August 2004

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12 January 2018

published in

Human Mutation

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12 January 2018

volume

24

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12 January 2018

issue

2

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12 January 2018

page(s)

140-146

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12 January 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

Revised diagnostic criteria for the Marfan syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

The question of heterogeneity in Marfan syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

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https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

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https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

Multi-exon deletions of the FBN1 gene in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

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://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

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https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

The Marfan Syndrome: Diagnosis and Management

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

Premature termination mutations in FBN1: distinct effects on differential allelic expression and on protein and clinical phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20070

7 January 2021

Identifiers

DOI

10.1002/HUMU.20070

1 reference

12 January 2018

PubMed ID

15241795

1 reference

12 January 2018