Publications:

Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.

Journal Of The American Heart Association

Mariscalco, Giovanni G; Debiec, Radoslaw R; Elefteriades, John A JA; Samani, Nilesh J NJ; Murphy, Gavin J GJ

Publication Date: 2018-08-07

Variant appearance in text: FBN1: 235C>T

PubMed Link: 30371227

Variant Present in the following documents:

• JAH3-7-e009302.pdf

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From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards.

Genome Medicine

Perera-Bel, Júlia J; Hutter, Barbara B; Heining, Christoph C; Bleckmann, Annalen A; Fröhlich, Martina M; Fröhling, Stefan S; Glimm, Hanno H; Brors, Benedikt B; Beißbarth, Tim T

Publication Date: 2018-03-15

Variant appearance in text: FBN1: Q79X

PubMed Link: 29544535

Variant Present in the following documents:

• 13073_2018_529_MOESM2_ESM.xlsx, sheet 7

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Karyomapping-a comprehensive means of simultaneous monogenic and cytogenetic PGD: comparison with standard approaches in real time for Marfan syndrome.

Journal Of Assisted Reproduction And Genetics

Thornhill, Alan R AR; Handyside, Alan H AH; Ottolini, Christian C; Natesan, Senthil A SA; Taylor, Jon J; Sage, Karen K; Harton, Gary G; Cliffe, Kerry K; Affara, Nabeel N; Konstantinidis, Michalis M; Wells, Dagan D; Griffin, Darren K DK

Publication Date: 2015-03

Variant appearance in text: FBN1: 235C>T

PubMed Link: 25561157

Variant Present in the following documents:

• Main text
• 10815_2014_Article_405.pdf

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