(Q28253743)

2

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Maggie S Brett

3

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Matthew J Edwards

4

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Bruce Bennetts

American Journal of Medical Genetics Part A

5

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language of work or name

English

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publication date

30 April 2004

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published in

1 reference

A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype.

PubMed

volume

126A

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issue

3

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page(s)

284-9

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

A novel mutation of the fibrillin gene causing ectopia lentis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

The molecular genetics of Marfan syndrome and related microfibrillopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

Clustering of mutations associated with mild Marfan-like phenotypes in the 3? region ofFBN1 suggests a potential genotype-phenotype correlation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20605