Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome (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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P Van Acker

3

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K Wettinck

4

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L Nuytinck

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P Coucke

7

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A De Paepe

8

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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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issue

2

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page(s)

140-146

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

cites work

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7 January 2021

Revised diagnostic criteria for the Marfan syndrome

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7 January 2021

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

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7 January 2021

The question of heterogeneity in Marfan syndrome

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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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7 January 2021

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

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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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7 January 2021

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Multi-exon deletions of the FBN1 gene in Marfan syndrome

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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

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7 January 2021

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

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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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

The Marfan Syndrome: Diagnosis and Management

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20070

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12 January 2018

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12 January 2018