Software and database for the analysis of mutations in the human FBN1 gene (Q39715184)

14 September 2017

Software and database for the analysis of mutations in the human FBN1 gene (English)

1 reference

14 September 2017

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C Béroud

2

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Catherine Boileau

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author name string

G Collod

1

1 reference

14 September 2017

T Soussi

3

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14 September 2017

C Junien

4

1 reference

14 September 2017

C Boileau

5

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14 September 2017

language of work or name

English

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publication date

1 January 1996

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14 September 2017

Nucleic Acids Research

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14 September 2017

24

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14 September 2017

1

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14 September 2017

137-140

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Fall accident patterns. Characterization of most frequent work surface-related injuries

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

A novel mutation of the fibrillin gene causing ectopia lentis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

A new missense mutation of fibrillin in a patient with Marfan syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

"New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

Solution structure of murine epidermal growth factor: determination of the polypeptide backbone chain-fold by nuclear magnetic resonance and distance geometry

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

Biochemical genetics: examples of life after cloning

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

Isolated congenital ectopia lentis with autosomal dominant inheritance

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

International nosology of heritable disorders of connective tissue, Berlin, 1986

2 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=145600

Congenital contractural arachnodactyly. A heritable disorder of connective tissue

2 December 2018

1 reference

12 December 2020

The solution structure of human epidermal growth factor

1 reference

12 December 2020

Partial sequence of a candidate gene for the Marfan syndrome

1 reference

12 December 2020

Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1

1 reference

12 December 2020

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques

1 reference

12 December 2020

Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients

1 reference

12 December 2020

Identifiers

DOI

10.1093/NAR/24.1.137

1 reference

journals/nar/CollodBSJB96

14 September 2017

1 reference

DBLP Dataset 2021-01-02

release_zow2phurafcsxl4hm5dnykwu2m

28 January 2021

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zow2phurafcsxl4hm5dnykwu2m

24 November 2022

mapped directly with Wikidata item

1 reference

14 September 2017

1 reference