(Q79451735)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17189636%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

title

Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17189636%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference

Krishna Kumar Singh

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17189636%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Diana Elligsen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17189636%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Rüdiger Liersch

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17189636%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Stefanie Schubert

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17189636%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Brigitte Pabst

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17189636%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Mine Arslan-Kirchner

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17189636%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

Jörg Schmidtke

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17189636%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

publication date

26 December 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17189636%20AND%20SRC:MED&resulttype=core&format=json

Journal of Molecular and Cellular Cardiology

23 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17189636%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

volume

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17189636%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17189636%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

page(s)

352-356

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17189636%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

Revised diagnostic criteria for the Marfan syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

Revised genomic organization of FBN1 and significance for regulated gene expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

Molecular genetics of Marfan syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

Multi-exon deletions of the FBN1 gene in Marfan syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients with Marfan syndrome or Marfanoid features leads to the identification of 11 novel and three previously reported mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

Fibrillin-1 misfolding and disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

The molecular pathogenesis of the Marfan syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YJMCC.2006.11.006

10.1016/J.YJMCC.2006.11.006

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17189636%20AND%20SRC:MED&resulttype=core&format=json

23 December 2019

1 reference