(Q46776444)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16251899%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

title

Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects (English)

1 reference

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8 January 2020

1 reference

15

1 reference

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8 January 2020

Nicola Marziliano

3

1 reference

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8 January 2020

12

Antonio Pelliccia

1 reference

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8 January 2020

author name string

Eliana Disabella

1

1 reference

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8 January 2020

Maurizia Grasso

2

1 reference

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8 January 2020

Silvia Ansaldi

4

1 reference

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8 January 2020

Claudia Lucchelli

5

1 reference

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8 January 2020

Emanuele Porcu

6

1 reference

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8 January 2020

Marilena Tagliani

7

1 reference

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8 January 2020

Andrea Pilotto

8

1 reference

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8 January 2020

Marta Diegoli

9

1 reference

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8 January 2020

Luca Lanzarini

10

1 reference

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8 January 2020

Clara Malattia

11

1 reference

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8 January 2020

Anna Ficcadenti

13

1 reference

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8 January 2020

Orazio Gabrielli

14

1 reference

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8 January 2020

publication date

1 January 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16251899%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

8 January 2020

published in

1 reference

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8 January 2020

volume

14

1 reference

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8 January 2020

issue

1

1 reference

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8 January 2020

page(s)

34-38

1 reference

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https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201502

8 January 2020

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201502

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201502

Heterozygous TGFBR2 mutations in Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201502

Transforming growth factor receptor gene TGFBR2 maps to human chromosome band 3p22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201502

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201502

Making sense of latent TGFbeta activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201502

New insights into TGF-beta-Smad signalling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201502

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201502

Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201502

Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201502

HNPCC associated with germline mutation in the TGF-beta type II receptor gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201502

Comparison of cardiovascular and skeletal features of primary mitral valve prolapse and Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201502

inferred from DOI database lookup

7 January 2021

based on heuristic

Revised diagnostic criteria for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201502