(Q33708680)

28 July 2017

1 reference

title

Marfan syndrome: new clues to genotype-phenotype correlations (English)

1 reference

28 July 2017

1 reference

1 reference

F Ramirez

1

1 reference

28 July 2017

B Gayraud

series ordinal

2

1 reference

28 July 2017

L Pereira

series ordinal

3

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 June 1999

1 reference

28 July 2017

1 reference

28 July 2017

31

1 reference

28 July 2017

3

1 reference

28 July 2017

202-207

1 reference

Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly

28 July 2017

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

An analysis by rotary shadowing of the structure of the mammalian vitreous humor and zonular apparatus

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

Extraction of extendable beaded structures and their identification as fibrillin-containing extracellular matrix microfibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

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/10.3109%2F07853899909115979

Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

The structure of a Ca(2+)-binding epidermal growth factor-like domain: its role in protein-protein interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

Calcium stabilizes fibrillin-1 against proteolytic degradation.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

Calcium determines the supramolecular organization of fibrillin-rich microfibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

Metal ion dependency of microfibrils supports a rod-like conformation for fibrillin-1 calcium-binding epidermal growth factor-like domains

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

Fibrillln mutations in Marfan syndrome and related phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

Elastin is an essential determinant of arterial morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

Novel arterial pathology in mice and humans hemizygous for elastin

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899909115979

10.3109/07853899909115979

21 January 2018

Identifiers

DOI

1 reference

28 July 2017

1 reference