(Q34648993)

3 August 2017

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

1 reference

3 August 2017

0 references

0 references

11

1 reference

3 August 2017

C Béroud

2

0 references

Catherine Boileau

0 references

Gwenaëlle Collod-Béroud

1 reference

ORCID Public Data File 2021

author name string

G Collod-Béroud

1

1 reference

3 August 2017

L Ades

3

1 reference

3 August 2017

C Black

4

1 reference

3 August 2017

M Boxer

5

1 reference

3 August 2017

D J Brock

6

1 reference

3 August 2017

K J Holman

7

1 reference

3 August 2017

A de Paepe

8

1 reference

3 August 2017

U Francke

9

1 reference

3 August 2017

U Grau

10

1 reference

3 August 2017

H G Klein

12

1 reference

3 August 2017

W Liu

13

1 reference

3 August 2017

L Nuytinck

14

1 reference

3 August 2017

L Peltonen

15

1 reference

3 August 2017

A B Alvarez Perez

16

1 reference

3 August 2017

T Rantamäki

17

1 reference

3 August 2017

C Junien

18

1 reference

3 August 2017

C Boileau

19

1 reference

3 August 2017

language of work or name

English

0 references

publication date

1 January 1998

1 reference

3 August 2017

Nucleic Acids Research

1 reference

3 August 2017

26

1 reference

3 August 2017

229-223

1 reference

3 August 2017

1

1 reference

Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene

3 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

Revised diagnostic criteria for the Marfan syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

Biochemical genetics: examples of life after cloning

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

The fibrillin-Marfan syndrome connection

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

A novel mutation of the fibrillin gene causing ectopia lentis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

Elastin-Associated Microfibrils and Microfibrillar Proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=147226

Partial sequence of a candidate gene for the Marfan syndrome

26 October 2018

1 reference

12 December 2020

Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Cysteine-to-arginine point mutation in a 'hybrid' eight-cysteine domain of FBN1: consequences for fibrillin aggregation and microfibril assembly

1 reference

12 December 2020

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

1 reference

12 December 2020

A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome

1 reference

12 December 2020

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe 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/26.1.229

1 reference

journals/nar/Collod-BeroudBABBBHPFGHKLNPPRJB98

3 August 2017

1 reference

DBLP Dataset 2021-01-02

28 January 2021

1 reference

3 August 2017

1 reference