(Q43674543)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11453977%20AND%20SRC:MED&resulttype=core&format=json

9 November 2019

title

Fibrillin-1 (FBN1) gene frameshift mutations in Marfan patients: genotype-phenotype correlation (English)

1 reference

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9 November 2019

2

1 reference

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9 November 2019

Claudia Bagni

9

1 reference

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9 November 2019

Guglielmina Pepe

1

1 reference

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9 November 2019

author name string

L Evangelisti

3

1 reference

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9 November 2019

M C Porciani

4

1 reference

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9 November 2019

T Brunelli

5

1 reference

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9 November 2019

L Giurlani

6

1 reference

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9 November 2019

M Attanasio

7

1 reference

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9 November 2019

R Fattori

8

1 reference

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9 November 2019

P Comeglio

10

1 reference

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9 November 2019

R Abbate

11

1 reference

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9 November 2019

G F Gensini

12

1 reference

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9 November 2019

publication date

1 June 2001

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9 November 2019

1 reference

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9 November 2019

volume

59

1 reference

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9 November 2019

issue

6

1 reference

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9 November 2019

page(s)

444-450

1 reference

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Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

Marfan Database (third edition): new mutations and new routines for the software

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

Detection of mismatched bases in double stranded DNA by gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

Mechanisms of insertional mutagenesis in human genes causing genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

Revised diagnostic criteria for the Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

7 January 2021

Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

7 January 2021

Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

7 January 2021

A Major Involvement of the Cardiovascular System in Patients Affected by Marfan Syndrome: Novel Mutations in Fibrillin 1 Gene

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

7 January 2021

Determination of free and total homocysteine in human plasma by high-performance liquid chromatography with fluorescence detection

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

7 January 2021

Silent mutation induces exon skipping of fibrillin-1 gene in Marfan syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

7 January 2021

Two novel fibrillin-1 mutations resulting in premature termination codons but in different mutant transcript levels and clinical phenotypes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

7 January 2021

Alternative splicing of exon 37 of FBN1 deletes part of an 'eight-cysteine' domain resulting in the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

7 January 2021

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.590610.X

7 January 2021